Pub Date : 2021-01-01Epub Date: 2021-02-24DOI: 10.1159/000513885
Mohammad Nosrati-Oskouie, Golaleh Asghari, Emad Yuzbashian, Nazanin Sadat Aghili-Moghaddam, Maryam Zarkesh, Mohammad Safarian, Parvin Mirmiran
Background: Omentin is an adipokine with anti-inflammatory and insulin-sensitizing effects that can play a protective role against cardiovascular disease and diabetes. The aim was to systematically review and summarize the existing evidence on the association between overall dietary intake and omentin gene expression and circulation.
Summary: A literature search was conducted in PubMed, Scopus, and Web of Science up to September 2019. Of the 1,940 retrieved articles, 20 relevant studies were included, 6 of which were observational, 11 were clinical trials in humans, and 3 were animal studies. Four randomized controlled trials (RCTs) had a high risk of bias (RoB), 1 had "some concerns", and 2 had a low RoB. Among the nonrandomized studies with comparators, 4 had a serious RoB and 2 had a moderate RoB. In the experimental animal studies with a moderate RoB, conflicting results for omentin serum concentration were found for high-fat and low-fat diets. A high-fat diet (HFD) was shown to reduce omentin gene expression in one animal study. In the observational studies, omentin serum concentration was reduced by Ramadan fasting and saturated fatty acid (SFA) intake, and an increase in omentin gene expression was observed with monounsaturated fatty acid (MUFA) intake. There was no association of dietary inflammatory index (DII), macronutrient intake, or total calorie intake with omentin plasma concentrations. In the human interventional studies, omentin plasma concentration increased with a long-term low-calorie, low-fat diet (LFD), and no change was seen with a HFD or a short-term low-calorie diet (LCD). Key Messages: It seems that a long-term diet with a lower fat content and a balanced distribution of fatty acids, i.e., a higher MUFA and lower SFA intake, may effectively increase omentin plasma concentration, possibly via improved insulin resistance and reduced inflammation, but more research is needed to confirm or refute this.
背景:大网膜蛋白是一种具有抗炎和胰岛素增敏作用的脂肪因子,对心血管疾病和糖尿病具有保护作用。目的是系统地回顾和总结现有的关于总膳食摄入量与网膜基因表达和循环之间关系的证据。摘要:截至2019年9月,在PubMed、Scopus和Web of Science中进行了文献检索。在1940篇检索到的文章中,纳入了20项相关研究,其中6项是观察性研究,11项是人体临床试验,3项是动物研究。4项随机对照试验(RCTs)具有高偏倚风险(RoB), 1项有“一些担忧”,2项具有低RoB。在有比较者的非随机研究中,4例有严重的RoB, 2例有中度的RoB。在适度罗布的实验动物研究中,高脂和低脂饮食对网膜血清浓度的影响结果相互矛盾。在一项动物研究中,高脂肪饮食(HFD)被证明可以降低网膜基因表达。在观察性研究中,斋月禁食和摄入饱和脂肪酸(SFA)可降低血清大网膜蛋白浓度,摄入单不饱和脂肪酸(MUFA)可增加大网膜蛋白基因表达。饮食炎症指数(DII)、常量营养素摄入或总热量摄入与大网膜血浆浓度没有关联。在人体介入性研究中,长期低热量、低脂肪饮食(LFD)会增加大网膜血药浓度,而长期低热量饮食(HFD)或短期低热量饮食(LCD)没有变化。关键信息:长期的低脂肪饮食和均衡的脂肪酸分布,即高MUFA和低SFA的摄入,可能通过改善胰岛素抵抗和减少炎症,有效地增加网膜血浆浓度,但需要更多的研究来证实或反驳这一点。
{"title":"Does Dietary Intake Impact Omentin Gene Expression and Plasma Concentration? A Systematic Review.","authors":"Mohammad Nosrati-Oskouie, Golaleh Asghari, Emad Yuzbashian, Nazanin Sadat Aghili-Moghaddam, Maryam Zarkesh, Mohammad Safarian, Parvin Mirmiran","doi":"10.1159/000513885","DOIUrl":"https://doi.org/10.1159/000513885","url":null,"abstract":"<p><strong>Background: </strong>Omentin is an adipokine with anti-inflammatory and insulin-sensitizing effects that can play a protective role against cardiovascular disease and diabetes. The aim was to systematically review and summarize the existing evidence on the association between overall dietary intake and omentin gene expression and circulation.</p><p><strong>Summary: </strong>A literature search was conducted in PubMed, Scopus, and Web of Science up to September 2019. Of the 1,940 retrieved articles, 20 relevant studies were included, 6 of which were observational, 11 were clinical trials in humans, and 3 were animal studies. Four randomized controlled trials (RCTs) had a high risk of bias (RoB), 1 had \"some concerns\", and 2 had a low RoB. Among the nonrandomized studies with comparators, 4 had a serious RoB and 2 had a moderate RoB. In the experimental animal studies with a moderate RoB, conflicting results for omentin serum concentration were found for high-fat and low-fat diets. A high-fat diet (HFD) was shown to reduce omentin gene expression in one animal study. In the observational studies, omentin serum concentration was reduced by Ramadan fasting and saturated fatty acid (SFA) intake, and an increase in omentin gene expression was observed with monounsaturated fatty acid (MUFA) intake. There was no association of dietary inflammatory index (DII), macronutrient intake, or total calorie intake with omentin plasma concentrations. In the human interventional studies, omentin plasma concentration increased with a long-term low-calorie, low-fat diet (LFD), and no change was seen with a HFD or a short-term low-calorie diet (LCD). Key Messages: It seems that a long-term diet with a lower fat content and a balanced distribution of fatty acids, i.e., a higher MUFA and lower SFA intake, may effectively increase omentin plasma concentration, possibly via improved insulin resistance and reduced inflammation, but more research is needed to confirm or refute this.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000513885","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25407383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01Epub Date: 2021-09-24DOI: 10.1159/000519267
{"title":"14th Congress of the International Society of Nutrigenetics/Nutrigenomics (ISNN).","authors":"","doi":"10.1159/000519267","DOIUrl":"https://doi.org/10.1159/000519267","url":null,"abstract":"","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39450793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01Epub Date: 2021-07-21DOI: 10.1159/000517760
Olivia M Dong
The National Human Genome Research Institute (NHGRI) published bold predictions for genomic medicine to strive toward by 2030 [1]. These predictions outline a promising impact genomic information will have on health, including aspirations such as enabling individuals to securely access genome sequencing results on their smartphones and making the use of genomic information as routine in all clinical settings [1]. One application of genomic medicine is nutrigenetics (NGx), which investigates the associations between genetic variants, diet, and health outcomes [2]. NGx has the potential to use genetic information in ways that can further individualize nutrition interventions to help patients achieve improved health outcomes. While incorporating NGx testing as part of clinical care is promising, it is not routinely done in clinical settings. To better understand how NGx testing can strive toward routine use per NHGRI’s aspirational goals, the diffusion of innovation (DOI) theory will be used as a framework to examine the challenges and opportunities of integrating NGx testing into clinical care. The DOI theory seeks to explain the spread of innovations through populations and how they get adopted over time [3], with recognition that the majority of innovations fail to successfully diffuse through populations and that adoption is not necessarily based on the effectiveness of innovations [4]. In fact, effective innovations can be stalled, while ineffective innovations can sometimes diffuse farther in comparison [4]. The adoption rate for innovations relies on several factors, including the perceived attributes of the innovation, characteristics of the adopters, communication channels (e.g., mass media), and the social system (e.g., diffusion within health-care systems) [3]. The perceived attributes of NGx testing and characteristics of adopters will be discussed in more detail.
{"title":"Using the Diffusion of Innovation Theory to Understand the Challenges and Opportunities to Advancing Use of Nutrigenetics in Clinical Practice.","authors":"Olivia M Dong","doi":"10.1159/000517760","DOIUrl":"https://doi.org/10.1159/000517760","url":null,"abstract":"The National Human Genome Research Institute (NHGRI) published bold predictions for genomic medicine to strive toward by 2030 [1]. These predictions outline a promising impact genomic information will have on health, including aspirations such as enabling individuals to securely access genome sequencing results on their smartphones and making the use of genomic information as routine in all clinical settings [1]. One application of genomic medicine is nutrigenetics (NGx), which investigates the associations between genetic variants, diet, and health outcomes [2]. NGx has the potential to use genetic information in ways that can further individualize nutrition interventions to help patients achieve improved health outcomes. While incorporating NGx testing as part of clinical care is promising, it is not routinely done in clinical settings. To better understand how NGx testing can strive toward routine use per NHGRI’s aspirational goals, the diffusion of innovation (DOI) theory will be used as a framework to examine the challenges and opportunities of integrating NGx testing into clinical care. The DOI theory seeks to explain the spread of innovations through populations and how they get adopted over time [3], with recognition that the majority of innovations fail to successfully diffuse through populations and that adoption is not necessarily based on the effectiveness of innovations [4]. In fact, effective innovations can be stalled, while ineffective innovations can sometimes diffuse farther in comparison [4]. The adoption rate for innovations relies on several factors, including the perceived attributes of the innovation, characteristics of the adopters, communication channels (e.g., mass media), and the social system (e.g., diffusion within health-care systems) [3]. The perceived attributes of NGx testing and characteristics of adopters will be discussed in more detail.","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000517760","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39206096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01Epub Date: 2021-06-16DOI: 10.1159/000516118
Júlia Marchetti, Karla P Balbino, Helen Hermana M Hermsdorff, Leidjaira L Juvanhol, José Alfredo Martinez, Thais Steemburgo
Introduction: Single nucleotide polymorphisms (SNP) in the fat mass and obesity-associated (FTO) gene have been associated with type 2 diabetes (T2D) and its complications. The aim of the present research was to investigate which and how (directly or indirectly) clinical and metabolic variables mediate the association between fat mass and the FTO gene and early chronic kidney disease (CKD) in individuals with T2D.
Methods: This cross-sectional study was conducted in a sample of 236 participants with T2D (53.4% women, mean age 60 ± 10 years). DNA samples were genotyped for the rs7204609 polymorphism (C/T) in the FTO gene. Clinical, anthropometric, and metabolic data were collected. Path analysis was used to evaluate the associations.
Results: Of the sample, 78 individuals with T2D had CKD (33%). Presence of the risk allele (C) was higher among participants with CKD (21.8 vs. 10.8%; p = 0.023). This polymorphism was positively associated with higher waist circumference, which in turn was associated with higher glycated hemoglobin and higher blood pressure. A higher blood-pressure level was associated with higher urinary albumin excretion (UAE) and as expected, higher UAE was associated with CKD. Path analysis showed an indirect relationship between the FTO gene and early CKD, mediated by waist circumference, blood-pressure levels, and UAE.
Conclusions: These findings suggest that the C allele may contribute to genetic susceptibility to CKD in individuals with T2D through the presence of central obesity, hypertension, and high albuminuria.
{"title":"Relationship between the FTO Genotype and Early Chronic Kidney Disease in Type 2 Diabetes: The Mediating Role of Central Obesity, Hypertension, and High Albuminuria.","authors":"Júlia Marchetti, Karla P Balbino, Helen Hermana M Hermsdorff, Leidjaira L Juvanhol, José Alfredo Martinez, Thais Steemburgo","doi":"10.1159/000516118","DOIUrl":"https://doi.org/10.1159/000516118","url":null,"abstract":"<p><strong>Introduction: </strong>Single nucleotide polymorphisms (SNP) in the fat mass and obesity-associated (FTO) gene have been associated with type 2 diabetes (T2D) and its complications. The aim of the present research was to investigate which and how (directly or indirectly) clinical and metabolic variables mediate the association between fat mass and the FTO gene and early chronic kidney disease (CKD) in individuals with T2D.</p><p><strong>Methods: </strong>This cross-sectional study was conducted in a sample of 236 participants with T2D (53.4% women, mean age 60 ± 10 years). DNA samples were genotyped for the rs7204609 polymorphism (C/T) in the FTO gene. Clinical, anthropometric, and metabolic data were collected. Path analysis was used to evaluate the associations.</p><p><strong>Results: </strong>Of the sample, 78 individuals with T2D had CKD (33%). Presence of the risk allele (C) was higher among participants with CKD (21.8 vs. 10.8%; p = 0.023). This polymorphism was positively associated with higher waist circumference, which in turn was associated with higher glycated hemoglobin and higher blood pressure. A higher blood-pressure level was associated with higher urinary albumin excretion (UAE) and as expected, higher UAE was associated with CKD. Path analysis showed an indirect relationship between the FTO gene and early CKD, mediated by waist circumference, blood-pressure levels, and UAE.</p><p><strong>Conclusions: </strong>These findings suggest that the C allele may contribute to genetic susceptibility to CKD in individuals with T2D through the presence of central obesity, hypertension, and high albuminuria.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000516118","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39237455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01Epub Date: 2021-06-17DOI: 10.1159/000514338
Natalia Divanoglou, Despina Komninou, Eleni A Stea, Anagnostis Argiriou, Grigorios Papatzikas, Andreas Tsakalof, Kalliopi Pazaitou-Panayiotou, Marios K Georgakis, Eleni Petridou
Background/aim: An alarming increase in vitamin D deficiency even in sunny regions highlights the need for a better understanding of the genetic background of the vitamin D endocrine system and the molecular mechanisms of gene polymorphisms of the vitamin D receptor (VDR). In this study, the serum levels of 25(OH)D3 were correlated with common VDR polymorphisms (ApaI, BsmI, FokI, and TaqI) in 98 subjects of a Greek homogeneous rural population.
Methods: 25(OH)D3 concentration was measured by ultra-HPLC, and the VDR gene polymorphisms were identified by quantitative real-time PCR followed by amplicon high-resolution melting analysis.
Results: Subjects carrying either the B BsmI (OR: 0.52, 95% CI: 0.27-0.99) or t TaqI (OR: 2.06, 95%: 1.06-3.99) allele presented twice the risk for developing vitamin D deficiency compared to the reference allele. Moreover, subjects carrying 1, 2, or all 3 of these genotypes (BB/Bb, Tt/tt, and FF) demonstrated 2-fold (OR: 2.04, 95% CI: 0.42-9.92), 3.6-fold (OR: 3.62, 95% CI: 1.07-12.2), and 7-fold (OR: 6.92, 95% CI: 1.68-28.5) increased risk for low 25(OH)D3 levels, respectively.
Conclusions: Our findings reveal a cumulative effect of specific VDR gene polymorphisms that may regulate vitamin D concentrations explaining, in part, the paradox of vitamin D deficiency in sunny regions, with important implications for precision medicine.
{"title":"Association of Vitamin D Receptor Gene Polymorphisms with Serum Vitamin D Levels in a Greek Rural Population (Velestino Study).","authors":"Natalia Divanoglou, Despina Komninou, Eleni A Stea, Anagnostis Argiriou, Grigorios Papatzikas, Andreas Tsakalof, Kalliopi Pazaitou-Panayiotou, Marios K Georgakis, Eleni Petridou","doi":"10.1159/000514338","DOIUrl":"https://doi.org/10.1159/000514338","url":null,"abstract":"<p><strong>Background/aim: </strong>An alarming increase in vitamin D deficiency even in sunny regions highlights the need for a better understanding of the genetic background of the vitamin D endocrine system and the molecular mechanisms of gene polymorphisms of the vitamin D receptor (VDR). In this study, the serum levels of 25(OH)D3 were correlated with common VDR polymorphisms (ApaI, BsmI, FokI, and TaqI) in 98 subjects of a Greek homogeneous rural population.</p><p><strong>Methods: </strong>25(OH)D3 concentration was measured by ultra-HPLC, and the VDR gene polymorphisms were identified by quantitative real-time PCR followed by amplicon high-resolution melting analysis.</p><p><strong>Results: </strong>Subjects carrying either the B BsmI (OR: 0.52, 95% CI: 0.27-0.99) or t TaqI (OR: 2.06, 95%: 1.06-3.99) allele presented twice the risk for developing vitamin D deficiency compared to the reference allele. Moreover, subjects carrying 1, 2, or all 3 of these genotypes (BB/Bb, Tt/tt, and FF) demonstrated 2-fold (OR: 2.04, 95% CI: 0.42-9.92), 3.6-fold (OR: 3.62, 95% CI: 1.07-12.2), and 7-fold (OR: 6.92, 95% CI: 1.68-28.5) increased risk for low 25(OH)D3 levels, respectively.</p><p><strong>Conclusions: </strong>Our findings reveal a cumulative effect of specific VDR gene polymorphisms that may regulate vitamin D concentrations explaining, in part, the paradox of vitamin D deficiency in sunny regions, with important implications for precision medicine.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000514338","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39241088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01Epub Date: 2021-08-12DOI: 10.1159/000518523
Isabela Cristina Ramos Podboi, Sophie Stephenson, Leta Pilic, Catherine Anna-Marie Graham, Alexandra King, Yiannis Mavrommatis
Introduction: Type 2 diabetes (T2D) is a leading cause of global mortality with diet and genetics being considered amongst the most significant risk factors. Recently, studies have identified a single polymorphism of the TCF7L2 gene (rs7903146) as the most important genetic contributor. However, no studies have explored this factor in a healthy population and using glycated haemoglobin (HbA1c), which is a reliable long-term indicator of glucose management. This study investigates the association of the genetic polymorphism rs7903146 and dietary intake with T2D risk in a population free of metabolic disease.
Methods: T2D risk was assessed using HbA1c plasma concentrations and dietary intake via a validated Food Frequency Questionnaire in 70 healthy participants.
Results: T allele carriers had higher HbA1c levels than the CC group (32.4 ± 7.2 mmol/mol vs. 30.3 ± 7.6 mmol/mol, p = 0.005). Multiple regression reported associations between diet, genotype and HbA1c levels accounting for 37.1% of the variance in HbA1c (adj. R2 = 0.371, p < 0.001). The following macronutrients, expressed as a median percentage of total energy intake (TEI) in the risk group, were positively associated with HbA1c concentration: carbohydrate (≥39% TEI, p < 0.005; 95% CI 0.030/0.130) protein (≥21% TEI, p < 0.005, 95% CI 0.034/0.141), monounsaturated (≥15% TEI p < 0.05, 95% CI 0.006/0.163) and saturated fatty acids (≥13% TEI; p < 0.05, 95% CI 0.036/0.188).
Conclusion: Carriers of the T allele showed significantly higher levels of HbA1c compared to non-carriers. Dietary intake affected T2D risk to a greater extent than genetic effects of TCF7L2rs7903146 genotype in a healthy population. The study focus on healthy individuals is beneficial due to the applicability of findings for T2D screening.
导言:2型糖尿病(T2D)是全球死亡的主要原因,饮食和遗传被认为是最重要的危险因素。最近,研究发现TCF7L2基因(rs7903146)的单一多态性是最重要的遗传因素。然而,没有研究在健康人群中探索这一因素,并使用糖化血红蛋白(HbA1c),这是一个可靠的血糖管理的长期指标。本研究在无代谢性疾病人群中调查遗传多态性rs7903146与饮食摄入与T2D风险的关系。方法:采用HbA1c血浆浓度和饮食摄入量,通过有效的食物频率问卷对70名健康参与者进行T2D风险评估。结果:T等位基因携带者HbA1c水平高于CC组(32.4±7.2 mmol/mol vs. 30.3±7.6 mmol/mol, p = 0.005)。多元回归报告饮食、基因型和HbA1c水平之间的相关性占HbA1c方差的37.1%(相对值R2 = 0.371, p < 0.001)。以下常量营养素(以风险组总能量摄入(TEI)的中位数百分比表示)与HbA1c浓度呈正相关:碳水化合物(TEI≥39%,p < 0.005;95% CI 0.030/0.130)蛋白质(≥21% TEI, p < 0.005, 95% CI 0.034/0.141)、单不饱和脂肪酸(≥15% TEI p < 0.05, 95% CI 0.006/0.163)和饱和脂肪酸(≥13% TEI;p < 0.05, 95% CI 0.036/0.188)。结论:T等位基因携带者的HbA1c水平明显高于非携带者。在健康人群中,饮食摄入对T2D风险的影响程度大于TCF7L2rs7903146基因型的遗传效应。关注健康个体的研究是有益的,因为研究结果适用于T2D筛查。
{"title":"Dietary Intake and TCF7L2 rs7903146 T Allele Are Associated with Elevated Blood Glucose Levels in Healthy Individuals.","authors":"Isabela Cristina Ramos Podboi, Sophie Stephenson, Leta Pilic, Catherine Anna-Marie Graham, Alexandra King, Yiannis Mavrommatis","doi":"10.1159/000518523","DOIUrl":"https://doi.org/10.1159/000518523","url":null,"abstract":"<p><strong>Introduction: </strong>Type 2 diabetes (T2D) is a leading cause of global mortality with diet and genetics being considered amongst the most significant risk factors. Recently, studies have identified a single polymorphism of the TCF7L2 gene (rs7903146) as the most important genetic contributor. However, no studies have explored this factor in a healthy population and using glycated haemoglobin (HbA1c), which is a reliable long-term indicator of glucose management. This study investigates the association of the genetic polymorphism rs7903146 and dietary intake with T2D risk in a population free of metabolic disease.</p><p><strong>Methods: </strong>T2D risk was assessed using HbA1c plasma concentrations and dietary intake via a validated Food Frequency Questionnaire in 70 healthy participants.</p><p><strong>Results: </strong>T allele carriers had higher HbA1c levels than the CC group (32.4 ± 7.2 mmol/mol vs. 30.3 ± 7.6 mmol/mol, p = 0.005). Multiple regression reported associations between diet, genotype and HbA1c levels accounting for 37.1% of the variance in HbA1c (adj. R2 = 0.371, p < 0.001). The following macronutrients, expressed as a median percentage of total energy intake (TEI) in the risk group, were positively associated with HbA1c concentration: carbohydrate (≥39% TEI, p < 0.005; 95% CI 0.030/0.130) protein (≥21% TEI, p < 0.005, 95% CI 0.034/0.141), monounsaturated (≥15% TEI p < 0.05, 95% CI 0.006/0.163) and saturated fatty acids (≥13% TEI; p < 0.05, 95% CI 0.036/0.188).</p><p><strong>Conclusion: </strong>Carriers of the T allele showed significantly higher levels of HbA1c compared to non-carriers. Dietary intake affected T2D risk to a greater extent than genetic effects of TCF7L2rs7903146 genotype in a healthy population. The study focus on healthy individuals is beneficial due to the applicability of findings for T2D screening.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39411035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01Epub Date: 2020-12-10DOI: 10.1159/000511333
Won-Jun Lee, Ji Eun Lim, Hae Un Jung, Ji-One Kang, Taesung Park, Sungho Won, Sang Youl Rhee, Mi Kyung Kim, Yeon-Jung Kim, Bermseok Oh
Introduction: Obesity results from an imbalance in the intake and expenditure of calories that leads to lifestyle-related diseases. Although genome-wide association studies (GWAS) have revealed many obesity-related genetic factors, the interactions of these factors and calorie intake remain unknown. This study aimed to investigate interactions between calorie intake and the polygenic risk score (PRS) of BMI.
Methods: Three cohorts, i.e., from the Korea Association REsource (KARE; n = 8,736), CArdioVAscular Disease Association Study (CAVAS; n = 9,334), and Health EXAminee (HEXA; n = 28,445), were used for this study. BMI-related genetic loci were selected from previous GWAS. Two scores, PRS, and association (a)PRS, were used; the former was determined from 193 single-nucleotide polymorphisms (SNPs) from 5 GWAS datasets, and the latter from 62 SNPs (potentially associated) from 3 Korean cohorts (meta-analysis, p < 0.01).
Results: PRS and aPRS were significantly associated with BMI in all 3 cohorts but did not exhibit a significant interaction with total calorie intake. Similar results were obtained for obesity. PRS and aPRS were significantly associated with obesity but did not show a significant interaction with total calorie intake. We further analyzed the interaction with protein, fat, and carbohydrate intake. The results were similar to those for total calorie intake, with PRS and aPRS found to not be associated with the interaction of any of the 3 nutrition components for either BMI or obesity.
Discussion: The interaction of BMI PRS with calorie intake was investigated in 3 independent Korean cohorts (total n = 35,094) and no interactions were found between PRS and calorie intake for obesity.
{"title":"Analysis of the Interaction between Polygenic Risk Score and Calorie Intake in Obesity in the Korean Population.","authors":"Won-Jun Lee, Ji Eun Lim, Hae Un Jung, Ji-One Kang, Taesung Park, Sungho Won, Sang Youl Rhee, Mi Kyung Kim, Yeon-Jung Kim, Bermseok Oh","doi":"10.1159/000511333","DOIUrl":"https://doi.org/10.1159/000511333","url":null,"abstract":"<p><strong>Introduction: </strong>Obesity results from an imbalance in the intake and expenditure of calories that leads to lifestyle-related diseases. Although genome-wide association studies (GWAS) have revealed many obesity-related genetic factors, the interactions of these factors and calorie intake remain unknown. This study aimed to investigate interactions between calorie intake and the polygenic risk score (PRS) of BMI.</p><p><strong>Methods: </strong>Three cohorts, i.e., from the Korea Association REsource (KARE; n = 8,736), CArdioVAscular Disease Association Study (CAVAS; n = 9,334), and Health EXAminee (HEXA; n = 28,445), were used for this study. BMI-related genetic loci were selected from previous GWAS. Two scores, PRS, and association (a)PRS, were used; the former was determined from 193 single-nucleotide polymorphisms (SNPs) from 5 GWAS datasets, and the latter from 62 SNPs (potentially associated) from 3 Korean cohorts (meta-analysis, p < 0.01).</p><p><strong>Results: </strong>PRS and aPRS were significantly associated with BMI in all 3 cohorts but did not exhibit a significant interaction with total calorie intake. Similar results were obtained for obesity. PRS and aPRS were significantly associated with obesity but did not show a significant interaction with total calorie intake. We further analyzed the interaction with protein, fat, and carbohydrate intake. The results were similar to those for total calorie intake, with PRS and aPRS found to not be associated with the interaction of any of the 3 nutrition components for either BMI or obesity.</p><p><strong>Discussion: </strong>The interaction of BMI PRS with calorie intake was investigated in 3 independent Korean cohorts (total n = 35,094) and no interactions were found between PRS and calorie intake for obesity.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000511333","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38695483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01Epub Date: 2020-12-09DOI: 10.1159/000511421
Paul T Williams
Background: The phenotypic expression of a high-density lipoprotein (HDL) genetic risk score has been shown to depend upon whether the phenotype (HDL-cholesterol) is high or low relative to its distribution in the population (quantile-dependent expressivity). This may be due to the effects of genetic mutations on HDL-metabolism being concentration dependent.
Method: The purpose of this article is to assess whether some previously reported HDL gene-lifestyle interactions could potentially be attributable to quantile-dependent expressivity.
Summary: Seventy-three published examples of HDL gene-lifestyle interactions were interpreted from the perspective of quantile-dependent expressivity. These included interactive effects of diet, alcohol, physical activity, adiposity, and smoking with genetic variants associated with the ABCA1, ADH3, ANGPTL4, APOA1, APOA4, APOA5, APOC3, APOE, CETP, CLASP1, CYP7A1, GALNT2, LDLR, LHX1, LIPC, LIPG, LPL, MVK-MMAB, PLTP, PON1, PPARα, SIRT1, SNTA1,and UCP1genes. The selected examples showed larger genetic effect sizes for lifestyle conditions associated with higher vis-à-vis lower average HDL-cholesterol concentrations. This suggests these reported interactions could be the result of selecting subjects for conditions that differentiate high from low HDL-cholesterol (e.g., lean vs. overweight, active vs. sedentary, high-fat vs. high-carbohydrate diets, alcohol drinkers vs. abstainers, nonsmokers vs. smokers) producing larger versus smaller genetic effect sizes. Key Message: Quantile-dependent expressivity provides a potential explanation for some reported gene-lifestyle interactions for HDL-cholesterol. Although overall genetic heritability appears to be quantile specific, this may vary by genetic variant and environmental exposure.
{"title":"Quantile-Dependent Expressivity and Gene-Lifestyle Interactions Involving High-Density Lipoprotein Cholesterol.","authors":"Paul T Williams","doi":"10.1159/000511421","DOIUrl":"https://doi.org/10.1159/000511421","url":null,"abstract":"<p><strong>Background: </strong>The phenotypic expression of a high-density lipoprotein (HDL) genetic risk score has been shown to depend upon whether the phenotype (HDL-cholesterol) is high or low relative to its distribution in the population (quantile-dependent expressivity). This may be due to the effects of genetic mutations on HDL-metabolism being concentration dependent.</p><p><strong>Method: </strong>The purpose of this article is to assess whether some previously reported HDL gene-lifestyle interactions could potentially be attributable to quantile-dependent expressivity.</p><p><strong>Summary: </strong>Seventy-three published examples of HDL gene-lifestyle interactions were interpreted from the perspective of quantile-dependent expressivity. These included interactive effects of diet, alcohol, physical activity, adiposity, and smoking with genetic variants associated with the ABCA1, ADH3, ANGPTL4, APOA1, APOA4, APOA5, APOC3, APOE, CETP, CLASP1, CYP7A1, GALNT2, LDLR, LHX1, LIPC, LIPG, LPL, MVK-MMAB, PLTP, PON1, PPARα, SIRT1, SNTA1,and UCP1genes. The selected examples showed larger genetic effect sizes for lifestyle conditions associated with higher vis-à-vis lower average HDL-cholesterol concentrations. This suggests these reported interactions could be the result of selecting subjects for conditions that differentiate high from low HDL-cholesterol (e.g., lean vs. overweight, active vs. sedentary, high-fat vs. high-carbohydrate diets, alcohol drinkers vs. abstainers, nonsmokers vs. smokers) producing larger versus smaller genetic effect sizes. Key Message: Quantile-dependent expressivity provides a potential explanation for some reported gene-lifestyle interactions for HDL-cholesterol. Although overall genetic heritability appears to be quantile specific, this may vary by genetic variant and environmental exposure.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000511421","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38703651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01Epub Date: 2021-01-21DOI: 10.1159/000512544
Justine R Horne
The ultimate goal of researching nutrigenetic interactions is to be able to provide individuals with genetically-tailored nutrition advice (when evidence is sufficient) in an effort to optimize health outcomes. Accordingly, original research often discusses the potential for the results to inform genetically-tailored nutrition advice. Despite this, many studies do not report their methods, results, and discussion in a manner that is conducive to knowledge translation. With several consumer nutritional genomics companies now offering genetic testing for personalized nutrition, proper reporting of nutritional genomics research for knowledge translation is of vital importance. Common reporting errors relate to SNP and genotype reporting, results lacking detail, consideration of linkage disequilibrium, mechanisms of action/functional SNPs, details of dietary intake, and sample reporting. Because of this, knowledge translation professionals may be unable or challenged in their attempt to use the findings from such research to inform clinical practice in nutritional genomics and personalized nutrition. The present article provides an overview of the issues at hand. It further pre-sents a checklist as well as table and figure templates for researchers to use when reporting the results of original research in nutritional genomics to inform knowledge translation.
{"title":"Strengthening the Reporting of Nutritional Genomics Research to Inform Knowledge Translation in Personalized Nutrition.","authors":"Justine R Horne","doi":"10.1159/000512544","DOIUrl":"https://doi.org/10.1159/000512544","url":null,"abstract":"<p><p>The ultimate goal of researching nutrigenetic interactions is to be able to provide individuals with genetically-tailored nutrition advice (when evidence is sufficient) in an effort to optimize health outcomes. Accordingly, original research often discusses the potential for the results to inform genetically-tailored nutrition advice. Despite this, many studies do not report their methods, results, and discussion in a manner that is conducive to knowledge translation. With several consumer nutritional genomics companies now offering genetic testing for personalized nutrition, proper reporting of nutritional genomics research for knowledge translation is of vital importance. Common reporting errors relate to SNP and genotype reporting, results lacking detail, consideration of linkage disequilibrium, mechanisms of action/functional SNPs, details of dietary intake, and sample reporting. Because of this, knowledge translation professionals may be unable or challenged in their attempt to use the findings from such research to inform clinical practice in nutritional genomics and personalized nutrition. The present article provides an overview of the issues at hand. It further pre-sents a checklist as well as table and figure templates for researchers to use when reporting the results of original research in nutritional genomics to inform knowledge translation.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000512544","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38844569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-01-01Epub Date: 2021-06-29DOI: 10.1159/000515068
Santiago Navas-Carretero, Rodrigo San-Cristobal, Ismael Alvarez-Alvarez, Carlos Celis-Morales, Katherine M Livingstone, Claire B O'Donovan, Christina Mavrogianni, Christina P Lambrinou, Yannis Manios, Iwona Traczyck, Christian A Drevon, Cyril F M Marsaux, Wim H M Saris, Rosalind Fallaize, Anna L Macready, Julie A Lovegrove, Thomas E Gundersen, Marianne Walsh, Lorraine Brennan, Eileen R Gibney, Mike Gibney, John C Mathers, J Alfredo Martinez
Introduction: Carbohydrate intake and physical activity are related to glucose homeostasis, both being influenced by individual genetic makeup. However, the interactions between these 2 factors, as affected by genetics, on glycaemia have been scarcely reported.
Objective: We focused on analysing the interplay between carbohydrate intake and physical activity levels on blood glucose, taking into account a genetic risk score (GRS), based on SNPs related to glucose/energy metabolism.
Methods: A total of 1,271 individuals from the Food4Me cohort, who completed the nutritional intervention, were evaluated at baseline. We collected dietary information by using an online-validated food frequency questionnaire, a questionnaire on physical activity, blood biochemistry by analysis of dried blood spots, and by analysis of selected SNPs. Fifteen out of 31 SNPs, with recognized participation in carbohydrate/energy metabolism, were included in the component analyses. The GRS included risk alleles involved in the control of glycaemia or energy-yielding processes.
Results: Data concerning anthropometric, clinical, metabolic, dietary intake, physical activity, and genetics related to blood glucose levels showed expected trends in European individuals of comparable sex and age, being categorized by lifestyle, BMI, and energy/carbohydrate intakes, in this Food4Me population. Blood glucose was inversely associated with physical activity level (β = -0.041, p = 0.013) and positively correlated with the GRS values (β = 0.015, p = 0.047). Interestingly, an interaction affecting glycaemia, concerning physical activity level with carbohydrate intake, was found (β = -0.060, p = 0.033), which also significantly depended on the genetic background (GRS).
Conclusions: The relationships of carbohydrate intake and physical activity are important in understanding glucose homeostasis, where a role for the genetic background should be ascribed.
碳水化合物的摄入和身体活动与葡萄糖稳态有关,两者都受到个体基因组成的影响。然而,这两个因素之间的相互作用,受遗传影响,对血糖几乎没有报道。目的:考虑到与葡萄糖/能量代谢相关的snp的遗传风险评分(GRS),我们重点分析了碳水化合物摄入量和身体活动水平对血糖的相互作用。方法:来自Food4Me队列的1271名完成营养干预的个体在基线时进行评估。我们通过在线验证的食物频率问卷、身体活动问卷、通过分析干血斑和选择的snp分析来收集饮食信息。31个snp中有15个被认为参与碳水化合物/能量代谢,被纳入成分分析。GRS包括参与控制血糖或能量产生过程的风险等位基因。结果:在Food4Me人群中,与血糖水平相关的人体测量学、临床、代谢、饮食摄入、身体活动和遗传学数据显示,在性别和年龄相仿的欧洲个体中,按生活方式、BMI和能量/碳水化合物摄入量进行分类的趋势是预期的。血糖与体力活动水平呈负相关(β = -0.041, p = 0.013),与GRS值呈正相关(β = 0.015, p = 0.047)。有趣的是,研究发现身体活动水平与碳水化合物摄入量之间存在影响血糖的相互作用(β = -0.060, p = 0.033),这也显著依赖于遗传背景(GRS)。结论:碳水化合物摄入和身体活动的关系对于理解葡萄糖稳态是重要的,其中遗传背景的作用应归因于。
{"title":"Interactions of Carbohydrate Intake and Physical Activity with Regulatory Genes Affecting Glycaemia: A Food4Me Study Analysis.","authors":"Santiago Navas-Carretero, Rodrigo San-Cristobal, Ismael Alvarez-Alvarez, Carlos Celis-Morales, Katherine M Livingstone, Claire B O'Donovan, Christina Mavrogianni, Christina P Lambrinou, Yannis Manios, Iwona Traczyck, Christian A Drevon, Cyril F M Marsaux, Wim H M Saris, Rosalind Fallaize, Anna L Macready, Julie A Lovegrove, Thomas E Gundersen, Marianne Walsh, Lorraine Brennan, Eileen R Gibney, Mike Gibney, John C Mathers, J Alfredo Martinez","doi":"10.1159/000515068","DOIUrl":"https://doi.org/10.1159/000515068","url":null,"abstract":"<p><strong>Introduction: </strong>Carbohydrate intake and physical activity are related to glucose homeostasis, both being influenced by individual genetic makeup. However, the interactions between these 2 factors, as affected by genetics, on glycaemia have been scarcely reported.</p><p><strong>Objective: </strong>We focused on analysing the interplay between carbohydrate intake and physical activity levels on blood glucose, taking into account a genetic risk score (GRS), based on SNPs related to glucose/energy metabolism.</p><p><strong>Methods: </strong>A total of 1,271 individuals from the Food4Me cohort, who completed the nutritional intervention, were evaluated at baseline. We collected dietary information by using an online-validated food frequency questionnaire, a questionnaire on physical activity, blood biochemistry by analysis of dried blood spots, and by analysis of selected SNPs. Fifteen out of 31 SNPs, with recognized participation in carbohydrate/energy metabolism, were included in the component analyses. The GRS included risk alleles involved in the control of glycaemia or energy-yielding processes.</p><p><strong>Results: </strong>Data concerning anthropometric, clinical, metabolic, dietary intake, physical activity, and genetics related to blood glucose levels showed expected trends in European individuals of comparable sex and age, being categorized by lifestyle, BMI, and energy/carbohydrate intakes, in this Food4Me population. Blood glucose was inversely associated with physical activity level (β = -0.041, p = 0.013) and positively correlated with the GRS values (β = 0.015, p = 0.047). Interestingly, an interaction affecting glycaemia, concerning physical activity level with carbohydrate intake, was found (β = -0.060, p = 0.033), which also significantly depended on the genetic background (GRS).</p><p><strong>Conclusions: </strong>The relationships of carbohydrate intake and physical activity are important in understanding glucose homeostasis, where a role for the genetic background should be ascribed.</p>","PeriodicalId":18030,"journal":{"name":"Lifestyle Genomics","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000515068","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39119289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}