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Discrimination Exposure and Polygenic Risk for Obesity in Adulthood: Testing Gene-Environment Correlations and Interactions. 歧视暴露与成年后肥胖的多基因风险:测试基因与环境的相关性和相互作用。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2023-01-01 Epub Date: 2023-02-07 DOI: 10.1159/000529527
Adolfo G Cuevas, Frank D Mann, Robert F Krueger

Introduction: Exposure to discrimination has emerged as a risk factor for obesity. It remains unclear, however, whether the genotype of the individual can modulate the sensitivity or response to discrimination exposure (gene × environment interaction) or increase the likelihood of experiencing discrimination (gene-environment correlation).

Methods: This was an observational study of 4,102 white/European Americans in the Health and Retirement Study with self-reported, biological assessments, and genotyped data from 2006 to 2014. Discrimination was operationalized using the average of nine Everyday Discrimination Scale items. Polygenic risk scores (PRSs) for body mass index (BMI) and waist circumference (WC) were calculated using the weighted sum of risk alleles based on studies conducted by the Genetic Investigation of Anthropometric Traits (GIANT) consortium.

Results: We found that greater PRS-BMI was significantly associated with more reports of discrimination (β = 0.04 ± 0.02; p = 0.037). Further analysis showed that measured BMI partially mediated the association between PRS-BMI and discrimination. There was no evidence that the association between discrimination and BMI, or the association between discrimination and WC, differed by PRS-BMI or PRS-WC, respectively.

Conclusion: Our findings suggest that individuals with genetic liability for obesity may experience greater discrimination in their lifetime, consistent with a gene-environment correlation hypothesis. There was no evidence of a gene-environment interaction. More genome-wide association studies in diverse populations are needed to improve generalizability of study findings. In the meantime, prevention and clinical intervention efforts that seek to reduce exposure to all forms of discrimination may help reduce obesity at the population level.

简介遭受歧视已成为肥胖的一个风险因素。然而,目前仍不清楚个体的基因型是否能调节对歧视暴露的敏感性或反应(基因 × 环境相互作用)或增加遭受歧视的可能性(基因 - 环境相关性):这是一项观察性研究,研究对象是健康与退休研究(Health and Retirement Study)中的4102名白人/欧洲裔美国人,他们提供了2006年至2014年期间的自我报告、生物评估和基因分型数据。歧视采用九个日常歧视量表项目的平均值进行操作。体重指数(BMI)和腰围(WC)的多基因风险分数(PRS)是根据人体测量特征遗传调查(GIANT)联盟的研究结果,利用风险等位基因的加权总和计算得出的:结果:我们发现,PRS-BMI 越大与越多的歧视报告显著相关(β = 0.04 ± 0.02; p = 0.037)。进一步的分析表明,测量的体重指数部分介导了 PRS-BMI 与歧视之间的关系。没有证据表明,PRS-BMI 或 PRS-WC 与歧视和 BMI 之间的关联或歧视和 WC 之间的关联存在差异:我们的研究结果表明,具有肥胖遗传易感性的个体在其一生中可能会遭受更多的歧视,这与基因-环境相关性假说是一致的。没有证据表明基因与环境之间存在相互作用。需要在不同人群中开展更多的全基因组关联研究,以提高研究结果的普遍性。与此同时,预防和临床干预工作应努力减少各种形式的歧视,这可能有助于在人群层面减少肥胖。
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引用次数: 0
Nutrigenomics: Perceptions of South African Dietitians and General Practitioners. 营养基因组学:南非营养师和全科医生的看法。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2023-01-01 Epub Date: 2022-11-01 DOI: 10.1159/000526898
Desiré Greyvensteyn, Corinna May Walsh, Mariette Nel, Elizabeth Margaretha Jordaan

Introduction: Although investigations into the emerging field of nutrigenomics are relatively limited and more research in this field is required, experts agree that there is potential for it to be incorporated into health care practice. If health care professionals can promote healthy dietary behavior based on nutrigenomic testing, it can assist in addressing the health consequences of poor diet and lightning the strain on the South African health care system.

Methods: Registered dietitians (RDs) and general practitioners (GPs) registered with the Health Professions Council of South Africa (HPCSA) who obtained their qualification in South Africa (SA) were eligible to participate in this cross-sectional study. Participants were identified using convenience and snowball sampling. A self-administered electronic survey using EvaSys Software® was completed by those that agreed to participate.

Results: Nearly all RDs (97.3%), but less than a third of GPs (30.4%), had heard of the term nutrigenomics. Approximately three-quarters of RDs (74.7%) and GPs (73.9%) had or would personally consider undergoing genetic testing. More than 40% (43.5%) of RDs ranked direct-to-consumer genetic testing companies as the most equipped, while 31.8% of GPs ranked RDs as the most equipped to provide patients with nutrigenomic services. Both RDs and GPs ranked similar reasons as "strongly agree" for why consumers were motivated to make use of nutrigenomic services, which included "motivated by a desire to prevent or manage disease" (56.7%), "prevent a disease based on family history" (65.9%), "control health outcomes based on family history" (54.9%), and "improve overall health-related quality of life" (48.6%). Cost concerns were reported as the greatest barrier to implementing nutrigenomic services (75.7%). Other barriers included confidentiality issues (47.8%) and moral concerns (37.3%). Greater individualization of diet prescription (66.5%), stronger foundations for nutrition recommendations (62.4%), and dietary prescriptions that would manage or prevent certain diseases more effectively (59.0%) were all perceived as benefits of including nutrigenomics in practice.

Conclusion: This study identified perceived consumer motivators and barriers that might affect the willingness to seek nutrigenomic services in SA. In addition, the need for more nutrigenomic training opportunities, including the planning of personalized diets based on genetic testing results and interpretation of results, was confirmed. However, both RDs and GPs felt that the emerging field of nutrigenomics needs further development before it can be applied effectively in routine private and public health care in SA.

导言:虽然对营养基因组学这一新兴领域的调查相对有限,需要在这一领域开展更多的研究,但专家们一致认为,营养基因组学有可能被纳入医疗保健实践中。如果医疗保健专业人员能根据营养基因组学检测促进健康的饮食行为,就能帮助解决不良饮食对健康造成的影响,减轻南非医疗保健系统的压力:在南非卫生专业委员会(HPCSA)注册并获得资格证书的注册营养师(RD)和全科医生(GP)有资格参与这项横断面研究。研究人员通过方便抽样和滚雪球抽样的方式确定了参与者。同意参与研究的人员使用 EvaSys 软件® 完成了一项自填式电子调查:几乎所有的营养学家(97.3%)都听说过营养基因组学这一术语,但只有不到三分之一的全科医生(30.4%)听说过这一术语。约四分之三的营养学家(74.7%)和全科医生(73.9%)曾经或将亲自考虑接受基因检测。超过40%(43.5%)的研发人员将直接面向消费者的基因检测公司列为最有条件的公司,而31.8%的全科医生将研发人员列为最有条件为患者提供营养基因组学服务的人员。对于消费者使用营养基因组服务的动机,营养师和全科医生都将类似的理由列为 "非常同意",其中包括 "出于预防或控制疾病的愿望"(56.7%)、"根据家族病史预防疾病"(65.9%)、"根据家族病史控制健康结果"(54.9%)和 "改善与健康相关的整体生活质量"(48.6%)。据报告,费用问题是实施营养基因组服务的最大障碍(75.7%)。其他障碍包括保密问题(47.8%)和道德问题(37.3%)。更个性化的膳食处方(66.5%)、更坚实的营养建议基础(62.4%)以及能更有效地控制或预防某些疾病的膳食处方(59.0%)都被认为是将营养基因组学纳入实践的益处:本研究发现了可能影响南澳大利亚消费者寻求营养基因组学服务意愿的消费者动机和障碍。此外,还确认了需要更多的营养基因组学培训机会,包括根据基因检测结果规划个性化饮食和解释结果。不过,营养学家和全科医生都认为,营养基因组学这一新兴领域还需要进一步发展,才能有效地应用于南澳大利亚的常规私人和公共医疗保健中。
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引用次数: 0
FTO genotypes (rs9939609 T>A) are Associated with Increased Added Sugar Intake in Healthy Young Adults. FTO基因型(rs9939609T>A)与健康年轻人添加糖摄入量增加有关。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2023-01-01 Epub Date: 2023-10-25 DOI: 10.1159/000534741
Andrea Madrigal-Juarez, Erika Martínez-López, Tania Sanchez-Murguia, Lisset Magaña-de la Vega, Roberto Rodriguez-Echevarria, Maricruz Sepulveda-Villegas, Rafael Torres-Valadez, Nathaly Torres-Castillo

Introduction: Single-nucleotide polymorphism (SNP) rs9939609 in the FTO gene has been associated with dietary intake and appetite traits, mainly in participants with obesity; however, it remains widely unexplored in normal weight participants. Thus, the aims of this study were (1) to compare the changes in subjective appetite sensations, ghrelin, and insulin concentrations according to the SNP rs9939609 T>A in FTO and (2) to compare dietary intake between rs9939609 genotype groups in normal weight young participants.

Methods: We conducted a quasi-experimental study involving 88 normal weight participants to analyze subjective perception of appetite, hormonal response for hunger and satiety, and dietary intake according to the rs9939609 SNP. Participants received a standardized single breakfast. Visual analogue scales (VAS) were utilized for assessing the subjective perception of appetite at fasting and immediately after breakfast and at 30, 60, 90, and 120 min postprandially. Glucose, lipid profile, ghrelin, and insulin were measured at fasting and at 120 min after breakfast. Dietary intake was assessed with a 3-day food record. The SNP was determined by allelic discrimination with TaqMan probes. To compare dietetic, biochemical, and the subjective appetite sensations, Student t test, ANCOVA test, and the repeated measures ANOVA were used. The linear regression model and the linear mixed model were used for the association analysis. Pearson correlation was used to test the correlation between two quantitative variables.

Results: A total of 88 people participated, 81.8% were female, with a mean body mass index of 21.8 ± 2.0 kg/m2 and a mean age of 20.6 ± 2.0. Genotype frequencies of the rs9939609 SNP were 52% for the TT allele and 48% for the TA/AA. The subjective perception of appetite named hunger, fullness, satiety, desire to eat, and prospective food consumption were similar between genotypes of the rs9939609. Participants with the TA/AA genotype showed a higher intake of added sugar (p = 0.039) than TT participants. No differences were found in ghrelin, insulin, glucose, or lipid parameters between genotypes.

Conclusion: Carriers of the A allele from FTO gene SNP rs9939609 may have an increased preference for foods, specifically for added sugars.

引言:FTO基因中的单核苷酸多态性(SNP)rs9939609主要与肥胖参与者的饮食摄入和食欲特征有关,但在正常体重参与者中仍有广泛的研究。因此,本研究的目的是:1)根据FTO中的SNP rs9939609 T>A,比较主观食欲、胃饥饿素和胰岛素浓度的变化;2)比较正常体重年轻参与者rs993960 9基因型组之间的饮食摄入量。方法:我们进行了一项准实验研究,涉及88名正常体重的参与者,根据rs9939609 SNP分析食欲的主观感知、饥饿和饱腹的激素反应以及饮食摄入。参与者接受标准的单一早餐。视觉模拟量表(VAS)用于评估禁食时、早餐后立即以及餐后30、60、90和120分钟的主观食欲感知。空腹和早餐后120分钟测量葡萄糖、脂质、胃饥饿素和胰岛素。通过3天的饮食记录来评估饮食摄入量。SNP是通过TaqMan探针的等位基因歧视来确定的。为了比较饮食、生化和主观食欲,使用了Student T检验、ANCOVA检验和重复测量方差分析。采用线性回归模型和线性混合模型进行关联分析。Pearson相关性用于检验两个定量变量之间的相关性。结果:共有88人参加,其中81.8%为女性,平均BMI为21.8±2.0 kg/m2,平均年龄为20.6±2.0。TT等位基因rs9939609 SNP的基因型频率为52%,TA/AA为48%。rs9939609基因型对食欲的主观感知(饥饿、饱腹、饱腹感、进食欲望和预期食物消费)相似。TA/AA基因型参与者的添加糖摄入量高于TT参与者(p=0.039)。基因型之间的胃饥饿素、胰岛素、葡萄糖或脂质参数没有发现差异。结论:来自FTO基因SNP rs9939609的A等位基因携带者可能对食物,特别是添加糖有更大的偏好。
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引用次数: 0
Folate and Choline: Does It Take Two to Tango in Early Programming of Disease? 叶酸和胆碱:在疾病的早期编程中,探戈需要两个人吗?
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2023-01-01 Epub Date: 2023-10-05 DOI: 10.1159/000534452
Vicki Chen, Jacob L Schwartz, Clara E Cho
<p><strong>Background: </strong>The early life period marks a critical time during which the health trajectory of offspring can be shaped by external influences including maternal nutrition. Folate and choline are water-soluble micronutrients important for fetal development and involved in one-carbon metabolism. Intakes above and below the recommendations commonly occur for both of these nutrients including over-consumption of synthetic folic acid due to widespread vitamin supplement uses and discretionary fortification practices, whereas choline is under-consumed by a majority of the populations including pregnant women. Despite these intake patterns, their long-term impact on offspring health is largely unknown. Moreover, limited attention has been on the combined effects of folate and choline despite being metabolically interrelated as methyl nutrients. This review summarizes evidence from animal models and human studies investigating the role of inadequate or supplemental maternal intakes of folic acid, choline and combined effects of folic acid, and choline as modulators of health and disease in offspring. With the recent rise in the prevalence of obesity and metabolic diseases, our primary measures of interest were metabolic outcomes.</p><p><strong>Summary: </strong>Studies examining the role of maternal intakes of folic acid and/or choline in metabolic phenotypes of offspring have mostly been conducted in animal models with a limited number of reports that consider folate and choline together. An interdependent relationship has been demonstrated between folate and choline in studies where a deficiency in one leads to metabolic aberrations in another. Both deficient and excess maternal intakes of folic acid (in varying doses) have been shown to increase risk of obesity and characteristics of the metabolic syndrome in offspring but these findings were restricted to animal studies. Potential metabolic benefits of choline have been suggested in the presence of obesogenic environment but human data were sparse. An imbalanced intake of high folic acid and inadequate choline in the gestational diet created adverse consequences consistent with the obesogenic phenotypes whereas narrowing this imbalance with high choline blocked these effects. Mechanisms by which maternal folate and/or choline influence offspring outcomes may involve epigenetic modification of gene expression with DNA methylation that can be altered globally and gene-specifically. However, the effects of epigenetic programming were inconsistent as compensatory changes in metabolic products may occur and other contributors including the gut microbiota may provide additional insights into the mechanisms.</p><p><strong>Key messages: </strong>Maternal intakes of folic acid and/or choline can impact offspring's long-term health, with metabolic consequences that may arise from imbalances between folate and choline. However, there is a paucity of mechanistic understanding as various contri
背景:生命早期标志着一个关键时期,在这个时期,包括母体营养在内的外部影响可以塑造后代的健康轨迹。叶酸和胆碱是对胎儿发育很重要的水溶性微量营养素,参与单碳代谢。这两种营养素的摄入量通常都高于和低于建议值,包括由于广泛使用维生素补充剂和随意强化做法而过量摄入合成叶酸,而包括孕妇在内的大多数人群摄入胆碱不足。尽管有这些摄入模式,但对后代健康的长期影响在很大程度上是未知的。此外,尽管叶酸和胆碱作为甲基营养素在代谢上相互关联,但对其联合作用的关注有限。这篇综述总结了来自动物模型和人类研究的证据,这些研究调查了母亲摄入叶酸、胆碱不足或补充的作用,以及叶酸和胆碱作为后代健康和疾病调节剂的联合作用。随着最近肥胖和代谢性疾病患病率的上升,我们感兴趣的主要指标是代谢结果。综述:研究母体叶酸和/或胆碱在后代代谢表型中的作用的研究大多是在动物模型中进行的,同时考虑叶酸和胆碱的报道数量有限。叶酸和胆碱之间的相互依赖关系已在研究中得到证实,其中一种缺乏会导致另一种代谢异常。母体摄入叶酸不足和过量(不同剂量)都会增加后代肥胖的风险和代谢综合征的特征,但这些发现仅限于动物研究。胆碱的潜在代谢益处已被认为存在肥胖环境,但人类数据很少。妊娠期饮食中高叶酸摄入不平衡和胆碱不足会产生与肥胖表型一致的不良后果,而用高胆碱缩小这种不平衡会阻断这些影响。母体叶酸和/或胆碱影响后代结果的机制可能涉及DNA甲基化对基因表达的表观遗传学修饰,这种修饰可以全局性和基因特异性地改变。然而,表观遗传学编程的影响是不一致的,因为代谢产物可能会发生代偿性变化,包括肠道微生物群在内的其他贡献者可能会对机制提供更多的见解。关键信息:叶酸和/或胆碱会影响后代的长期健康,叶酸和胆碱摄入失衡可能会导致代谢后果。然而,由于各种因素影响编程效果,包括表观遗传学之外的影响,因此缺乏对机制的理解。由于叶酸和胆碱在代谢方面相互关联,未来的研究需要考虑这两种营养素,以更好地阐明健康和疾病的代谢程序。
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引用次数: 0
Salt-Taste Polymorphism TRPV1-rs8065080 Is Associated with Increased Likelihood of Depression in an Elderly Cohort. 在一个老年队列中,盐味多态性TRPV1-rs8065080与抑郁症的可能性增加有关。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2023-01-01 Epub Date: 2023-10-26 DOI: 10.1159/000534521
Celeste Ferraris, Christopher J Scarlett, Martin Veysey, Mark Lucock, Tamara Bucher, Emma L Beckett

Introduction: Despite the prevalence of depression and anxiety worldwide, their aetiologies remain unclear, and they can be difficult to diagnose and treat. Changes in salt-taste perception have been found in both conditions. Single-nucleotide polymorphisms (SNPs) in the salt-taste-related gene, TRPV1, have been associated with alterations to salt-taste perception, preference, and sodium consumption. Diet quality is a known modifier of depression and anxiety and recently, sodium intake has been studied in mental health. However, the relationships between salt-taste genetics, depression, anxiety, and these dietary factors are yet to be elucidated.

Methods: Data from the well-characterized cross-sectional Retirement Health and Lifestyle Study (n = 536, ≥65 y) were used to explore the relationships between the salt-taste SNP TRPV1-rs8065080, levels of depression and anxiety (Hospital Anxiety and Depression Scale, HADS), estimated sodium intake, and diet quality in this secondary analysis. Standard least-squares regression and nominal logistic regression modelling were used to compare continuous and categorical variables, respectively, with analyses stratified by sex.

Results: Presence of the TRPV1-rs8065080 variant allele (C) was found to increase the likelihood of having depression (HADS) in the total population and in males. The associations remained significant after adjusting for sodium intake, three diet quality indices, and demographic variables, suggesting that TRPV1-rs8065080 genotype is driving the association with depression.

Discussion/conclusion: Future studies should explore extra-oral functions of the SNP and salt-taste receptors in the brain and the roles of neurotransmitters common to both depression and salt taste to improve the management of this increasingly prevalent and difficult-to-treat condition.

引言:尽管抑郁症和焦虑症在全球范围内普遍存在,但其病因尚不清楚,而且很难诊断和治疗。在这两种情况下都发现了盐味觉的变化。盐味相关基因TRPV1中的单核苷酸多态性(SNPs)与盐味感知、偏好和钠消耗的改变有关。饮食质量是抑郁症和焦虑症的一个已知调节因素,最近,钠的摄入在心理健康方面进行了研究。然而,盐味遗传、抑郁、焦虑和这些饮食因素之间的关系尚待阐明。方法:在这项二次分析中,使用来自具有良好特征的横断面退休健康和生活方式研究(n=536,≥65y)的数据来探讨盐味SNP TRPV1-rs8065080、抑郁和焦虑水平(医院焦虑和抑郁量表,HADS)、估计钠摄入量和饮食质量之间的关系。标准最小二乘回归和标称逻辑回归模型分别用于比较连续变量和分类变量,并按性别进行分层分析。结果:发现TRPV1-rs8065080变异等位基因(C)的存在会增加总人群和男性患抑郁症(HADS)的可能性。在调整了钠摄入量、三项饮食质量指数和人口统计学变量后,这些相关性仍然显著,这表明TRPV1-rs8065080基因型是抑郁症的驱动因素。讨论/结论:未来的研究应该探索大脑中SNP和咸味受体的口腔外功能,以及抑郁症和咸味常见的神经递质的作用,以改善对这种日益普遍和难以治疗的疾病的管理。
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引用次数: 0
15th Congress of the International Society of Nutrigenetics & Nutrigenomics (ISNN). 国际营养遗传学和营养基因组学学会(ISNN)第15届大会。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2023-01-01 Epub Date: 2022-11-15 DOI: 10.1159/000527546
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引用次数: 0
Plasma MicroRNAs Related to Metabolic Syndrome in Mexican Women. 墨西哥妇女血浆中与代谢综合征相关的微RNA。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2023-01-01 Epub Date: 2023-09-14 DOI: 10.1159/000534041
Marisol Adelina Ramírez-Solano, Emilio J Córdova, Lorena Orozco, María Elizabeth Tejero

Introduction: The metabolic syndrome (MetS) is a cluster of abnormalities related to cardiovascular disease (CVD). Circulating miRNAs (c-miRNAs) are non-coding RNAs associated with different phenotypes, some of them integrating the MetS. The aim of the study was to compare the c-miRNAs profile in plasma between women with MetS and controls and explore their possible association with dysregulation of metabolic pathways.

Methods: The study was conducted in two phases. At the screening phase, miRNA composition in fasting plasma was compared between 8 participants with MetS and 10 healthy controls, using microarray technology. The validation phase included the analysis by qRT-PCR of 10 selected c-miRNAs in an independent sample (n = 29).

Results: We found 21 c-miRNAs differentially expressed between cases and controls. The concentration in plasma of the c-miRNAs hsa-miR-1260a, hsa-miR-4514, and hsa-miR-4687-5p were also correlated with risk factors for CVD. Differences of hsa-miR-1260a between cases and controls were validated using qRT-PCR (fold-change = 7.0; p = 0.003).

Conclusion: The signature of plasma c-miRNAs differed between women with MetS and controls. The identified miRNAs regulate pathways related to the MetS such as insulin resistance and adipokine activity. The role of c-miR-1260a in the MetS remains to be elucidated.

简介代谢综合征(MetS)是一组与心血管疾病(CVD)相关的异常现象。循环 miRNAs(c-miRNAs)是与不同表型相关的非编码 RNAs,其中一些与 MetS 相关。本研究旨在比较 MetS 妇女和对照组血浆中的 c-miRNAs 谱,并探讨它们与代谢途径失调的可能关联:研究分两个阶段进行。在筛选阶段,利用芯片技术比较了 8 名 MetS 患者和 10 名健康对照者空腹血浆中的 miRNA 组成。验证阶段包括通过 qRT-PCR 对独立样本(n = 29)中 10 个选定的 c-miRNA 进行分析:结果:我们发现 21 个 c-miRNA 在病例和对照组之间有差异表达。血浆中 c-miRNA hsa-miR-1260a、hsa-miR-4514 和 hsa-miR-4687-5p 的浓度也与心血管疾病的危险因素相关。通过 qRT-PCR 验证了病例与对照组之间 hsa-miR-1260a 的差异(折变 = 7.0;p = 0.003):结论:患有 MetS 的女性与对照组之间血浆 c-miRNA 的特征存在差异。结论:血浆中的 c-miRNAs 特征在 MetS 妇女和对照组之间存在差异。所发现的 miRNAs 可调控与 MetS 相关的通路,如胰岛素抵抗和脂肪因子活性。c-miR-1260a 在 MetS 中的作用仍有待阐明。
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引用次数: 0
Vitamin D Metabolism Genes Are Differentially Methylated in Individuals with Chronic Knee Pain. 慢性膝关节疼痛患者体内维生素 D 代谢基因的甲基化程度不同
IF 2 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2023-01-01 Epub Date: 2023-02-28 DOI: 10.1159/000529823
Larissa J Strath, Lingsong Meng, Asha Rani, Zhiguang Huo, Thomas C Foster, Roger B Fillingim, Yenisel Cruz-Almeida

Introduction: Recent evidence suggests that vitamin D may interact with the epigenome and play a role in the pain experience. In order for proper functioning to occur, there must be an adequate level of vitamin D present, made possible by enzymatic reactions that allow vitamin D to be biologically active. The purpose of this study was to explore the epigenetic landscape of genes involved in vitamin D metabolism in individuals with and without chronic knee pain.

Methods: Community-dwelling individuals recruited as part of a larger study focused on knee pain provided demographic, clinical, and pain-related information, as well as an intravenous blood sample to determine DNA methylation levels at CpG sites.

Results: There were differences in DNA methylation between those with and without pain in genes that code for enzymes related to vitamin D metabolism: CYP27B1 (1-α-hydroxylase). There was also hypermethylation on the gene that codes for the vitamin D receptor (VDR).

Conclusions: The presence of chronic pain is associated with epigenetic modifications in genes responsible for the expression of enzymes involved in vitamin D metabolism and cellular function. These results lay groundwork in understanding the mechanism underlying the association between vitamin D and chronic pain.

简介最近的证据表明,维生素 D 可能与表观基因组相互作用,并在疼痛体验中发挥作用。为了使维生素 D 发挥正常作用,必须有足够水平的维生素 D 存在,并通过酶促反应使维生素 D 具有生物活性。本研究的目的是探索慢性膝关节疼痛患者和非慢性膝关节疼痛患者体内参与维生素 D 代谢的基因的表观遗传结构:作为一项以膝关节疼痛为重点的大型研究的一部分,该研究招募了社区居民,他们提供了人口统计学、临床和疼痛相关信息,并提供了静脉血液样本以测定 CpG 位点的 DNA 甲基化水平:结果发现:在编码维生素 D 代谢相关酶的基因中,有疼痛和无疼痛患者的 DNA 甲基化水平存在差异:CYP27B1(1-α-羟化酶)。此外,编码维生素 D 受体(VDR)的基因也存在高甲基化现象:结论:慢性疼痛的存在与负责维生素 D 代谢和细胞功能相关酶表达的基因的表观遗传学改变有关。这些结果为了解维生素 D 与慢性疼痛之间的关联机制奠定了基础。
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引用次数: 0
Abstracts - 16th Congress of the International Society of Nutrigenetics & Nutrigenomics. 摘要 - 第 16 届国际营养遗传学和营养基因组学学会大会。
IF 2 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2023-01-01 Epub Date: 2023-10-05 DOI: 10.1159/000534171
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引用次数: 0
Heuristic Approach Uncovering Biological Significance of Gene-Lifestyle Interactions in Cardiometabolic Traits. 启发式方法揭示基因与生活方式相互作用对心脏代谢特征的生物学意义
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2023-01-01 Epub Date: 2023-06-20 DOI: 10.1159/000531181
Rodrigo San-Cristobal, Juan de Toro-Martín, Marie-Claude Vohl

Background: Gene-lifestyle interaction studies using genome-wide association studies (GWAS) data contribute to a better understanding of individual responses to environmental exposures.

Objectives: Herein, we aimed at assessing the biological significance of overlapping genes reported in gene-lifestyle interaction studies in cardiometabolic health.

Method: A heuristic analysis of genes reporting significant interactions related to cardiometabolic traits was performed to determine the biological pathways common to the different traits.

Results: A total of 873 genes were analyzed. Fine and condensed phenotypic solutions were obtained from overlapping genes common to more than one trait.

Conclusions: This study revealed significant metabolic pathways associated with the impact of gene-environment interactions on cardiometabolic risk. Graphical Abstract: Publicly available data in cloud-based repositories were used to perform enrichment analyses of genes previously described in GWAS studies that showed interaction with lifestyles. From the enriched pathways, cluster analysis was performed to group enriched metabolic disorders.

背景:利用全基因组关联研究(GWAS)数据进行基因-生活方式交互作用研究有助于更好地了解个体对环境暴露的反应:在此,我们旨在评估基因-生活方式交互作用研究中报告的重叠基因对心脏代谢健康的生物学意义:方法:对报告与心脏代谢特征相关的显著交互作用的基因进行启发式分析,以确定不同特征的共同生物通路:结果:共分析了 873 个基因。结果:共分析了 873 个基因,从一个以上性状共有的重叠基因中获得了精细和浓缩的表型解决方案:这项研究揭示了与基因-环境相互作用对心脏代谢风险的影响相关的重要代谢途径。图解摘要:研究人员利用云存储库中的公开数据,对之前在GWAS研究中描述过的、与生活方式存在相互作用的基因进行了富集分析。通过对富集的通路进行聚类分析,对富集的代谢紊乱进行分组。
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引用次数: 0
期刊
Lifestyle Genomics
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