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A Metabolically Unhealthy Phenotype Is Associated with ADIPOQ Genetic Variants and Lower Serum Adiponectin Levels. 代谢不健康表型与ADIPOQ遗传变异和低血清脂联素水平相关
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-11-02 DOI: 10.1159/000510021
Nathaly Torres-Castillo, Wendy Campos-Perez, Roberto Rodriguez-Echevarria, Sarai Citlalic Rodriguez-Reyes, Erika Martinez-Lopez

Background: Even though excessive adipose tissue is related to chronic metabolic disturbances, not all subjects with excess weight (EW) display metabolic alterations, and not all normal-weight (NW) subjects have a metabolically healthy (MH) phenotype, probably due to gene-environment interactions. The aim of this study was to investigate the interaction effects of ADIPOQ and PPARG genetic variants in NW and EW individuals with different metabolic phenotypes.

Methods: Data on 345 adults from western Mexico were analyzed. The individuals were classified into NW and EW groups according to body mass index, and were categorized as MH or metabolically unhealthy (MUH), considering homeostatic model assessment insulin resistance (HOMA-IR) and National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP III) cut-off points for glucose, triglycerides, high-density lipoprotein cholesterol, and blood pressure. Subjects with ≤1 altered parameter were classified as MH. The single nucleotide polymorphisms (SNPs) -11377C>G, -11391G>A, +45T>G, and +276G>T for ADIPOQ and Pro12Ala for PPARG were analyzed by allelic discrimination. High-molecular-weight adiponectin isoform levels were measured by ELISA.

Results: Lower serum adiponectin levels were associated with the MUH phenotype in EW subjects. NW subjects with the GG or TG genotype for the +45T>G SNP had reduced odds of the MUH phenotype. Individuals who carried two copies of the GG haplotype at the -11391G>A and -11377C>G SNPs for ADIPOQ had lower serum adiponectin levels than those with zero copies.

Conclusion: In this population, lower serum adiponectin levels were found in the EW-MUH phenotype, and no differences were observed between the NW-MH and the EW-MH phenotype. In addition, the +45T>G SNP was associated with reduced odds of the MUH phenotype.

背景:尽管过多的脂肪组织与慢性代谢紊乱有关,但并非所有超重(EW)的受试者都表现出代谢改变,也并非所有正常体重(NW)的受试者都具有代谢健康(MH)表型,这可能是由于基因-环境相互作用所致。本研究的目的是探讨ADIPOQ和PPARG遗传变异在不同代谢表型的NW和EW个体中的相互作用。方法:对墨西哥西部345名成年人的资料进行分析。根据体重指数将个体分为NW组和EW组,根据稳态模型评估胰岛素抵抗(HOMA-IR)和国家胆固醇教育计划成人治疗小组III (NCEP-ATP III)的葡萄糖、甘油三酯、高密度脂蛋白胆固醇和血压的截止点,将个体分类为MH或代谢不健康(MUH)。将参数改变≤1个的受试者归为MH。采用等位基因判别法分析ADIPOQ基因-11377C>G、-11391G>A、+45T>G、+276G>T的单核苷酸多态性(snp)和ppparg基因Pro12Ala的单核苷酸多态性。ELISA法检测高分子量脂联素异构体水平。结果:较低的血清脂联素水平与EW受试者的MUH表型相关。带有+45T>G SNP的GG或TG基因型的NW受试者发生MUH表型的几率降低。在ADIPOQ -11391G>A和-11377C>G snp位点上携带两个GG单倍型拷贝的个体血清脂联素水平低于零拷贝的个体。结论:在该人群中,EW-MUH表型的血清脂联素水平较低,NW-MH与EW-MH表型之间无差异。此外,+45T>G SNP与MUH表型的几率降低有关。
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引用次数: 6
The Covid-19 Global Pandemic: A Natural Experiment in the Making. Covid-19全球大流行:正在进行的自然实验。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-08-07 DOI: 10.1159/000510217
David M Mutch
[...]these natural experiments happen whether people want them to or not! Even after strict travel restrictions were implemented, the virus spread rapidly across the USA and phylogenetic analyses have proved useful to clarify the importance of domestic transmission [5]. [...]recent bioinformatic analyses of complete viral genomes suggest increasing diversification of SARS-CoV-2 strains [6]. Furthermore, a study in patients with lupus showed that the ACE2 gene is under epigenetic control, where hypomethylation was associated with increased ACE2 gene expression [10]. [...]it is plausible that lifestyle factors that regulate the epigenome may also alter a person’s risk of infection. [...]it will be important to follow babies born at different points during the pandemic, as well as young children, to determine whether COVID-19-induced lifestyle changes in parents have any long-lasting ramifications on offspring as they age.
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引用次数: 6
What Will It Take to Build an Expert Group of Nutrigenomic Practitioners? 如何建立一个营养基因组学专家小组?
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-05-05 DOI: 10.1159/000507252
Yael Joffe, Heléne Herholdt

Background: The past two decades have seen exponential growth in the number of genetic testing companies, but only a small percentage of these tests are being sold through health care professionals (HCPs). As each new genetic testing company appears, it is becoming more difficult for the practitioner and consumer to evaluate the credibility of the claims being made and the value of the tests being offered.

Summary: HCPs appear to have minimal nutrigenomics knowledge and little confidence in choosing and interpreting nutrigenetic tests. To remedy this, HCPs need access to credible education, professional support, networking, career development, mentorship, and a regulated testing environment. This will enable them to evaluate the credibility of genetic tests and testing companies, provide genetic results in context, and apply appropriate clinical translation. Key Message: In order to establish an expert group of nutrigenomic practitioners, collaboration is required between educational institutions, professional organizations, and genetic testing companies. This will provide the necessary support, skills, and knowledge to ensure that the best value is extracted from nutrigenetic tests in an ethical and responsible manner.

背景:在过去的二十年里,基因检测公司的数量呈指数级增长,但这些检测中只有一小部分是通过医疗保健专业人员(HCPs)销售的。随着每一家新的基因检测公司的出现,从业者和消费者越来越难以评估所做声明的可信度和所提供检测的价值。摘要:HCPs似乎缺乏营养基因组学知识,在选择和解释营养测试方面缺乏信心。为了解决这个问题,医护人员需要获得可靠的教育、专业支持、网络、职业发展、指导和规范的测试环境。这将使他们能够评估基因检测和检测公司的可信度,根据具体情况提供基因结果,并应用适当的临床翻译。关键信息:为了建立一个营养基因组学从业者专家组,需要教育机构、专业组织和基因检测公司之间的合作。这将提供必要的支持,技能和知识,以确保以道德和负责任的方式从营养遗传学测试中提取最佳价值。
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引用次数: 7
The NASA Twins Study: The Effect of One Year in Space on Long-Chain Fatty Acid Desaturases and Elongases. 美国国家航空航天局双胞胎研究:太空一年对长链脂肪酸去饱和酶和伸长酶的影响。
IF 2 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-05-06 DOI: 10.1159/000506769
Michael A Schmidt, Cem Meydan, Caleb M Schmidt, Ebrahim Afshinnekoo, Christopher E Mason

Background: At present, there is no clear understanding of the effect of long-duration spaceflight on the major enzymes that govern the metabolism of omega-6 and omega-3 fatty acids. To address this gap in knowledge, we used data from the NASA Twins Study, which includes a multiscale omics investigation of the changes that occurred during a year-long (340 days) human spaceflight. Embedded within the NASA Twins data are specific analytes associated with fatty acid metabolism.

Objectives: To examine the long-chain fatty acid desaturases and elongases in a single human during 1 year in space.

Method: One male twin was on board the International Space Station (ISS) for 1 year, while his monozygotic twin served as a genetically matched ground control. Longitudinal assessments included the genome, epige-nome, transcriptome, proteome, metabolome, microbiome, and immunome during the mission, as well as 6 months before and after. The gene-specific fatty acid desaturase and elongase transcriptome data (FADS1, FADS2, ELOVL2, and ELOVL5) were extracted from untargeted RNA-seq measurements derived from white blood cell fractions.

Results: Most data from the elongases and desaturases exhibited relatively similar expression profiles (R2 >0.6) over time for the CD8, CD19, and lymphocyte-depleted (LD) cell fractions, indicating overall conservation of function within and between the subjects. Both cell-type and temporal specificity was observed in some cases, and some differences were also apparent between the polyadenylated (polyA) fraction of processed RNAs versus the ribodepleted (ribo-) fraction. The flight subject showed a stronger enrichment of the fatty acid metabolic process pathway across almost all cell types (columns, CD4, CD8, CPT, and LD), most especially in the ribodepleted fraction of RNA, but also with the polyA+ fraction of RNA. Gene set enrichment analysis (GSEA) measures across three related fatty acid metabolism pathways showed a differential between the ground and the flight subject.

Conclusions: There appears to be no persistent alteration of desaturase and elongase gene expression associated with 1 year in space. However, these data provide evidence that cellular lipid metabolism can be responsive and dynamic to spaceflight, even though it appears cell-type and context specific, most notably in terms of the fraction of RNA measured and the collection protocols. These results also provide new evidence of mid-flight spikes in expression of selected genes, which may indicate transient responses to specific insults during spaceflight.

背景:目前,人们还不清楚长期太空飞行对支配欧米伽-6 和欧米伽-3 脂肪酸代谢的主要酶的影响。为了填补这一知识空白,我们使用了美国宇航局双胞胎研究(NASA Twins Study)的数据,该研究包括对为期一年(340 天)的人类太空飞行期间发生的变化进行多尺度omics调查。NASA Twins 数据中包含了与脂肪酸代谢相关的特定分析物:目的:研究人类在太空飞行一年期间的长链脂肪酸去饱和酶和伸长酶:方法:一名男性双胞胎在国际空间站(ISS)上生活了一年,他的单卵双胞胎作为遗传匹配的地面对照。纵向评估包括任务期间以及任务前后 6 个月的基因组、外显子组、转录组、蛋白质组、代谢组、微生物组和免疫组。基因特异性脂肪酸去饱和酶和伸长酶转录组数据(FADS1、FADS2、ELOVL2 和 ELOVL5)是从白细胞分馏物的非靶向 RNA-seq 测量中提取的:在 CD8、CD19 和去淋巴细胞 (LD) 细胞分馏物中,伸长酶和去饱和酶的大多数数据都显示出相对相似的表达谱(R2 >0.6),表明受试者体内和受试者之间的功能总体保持不变。在某些情况下观察到了细胞类型和时间特异性,处理过的 RNA 中的多聚腺苷酸(polyA)部分与去核糖核酸(ribo)部分之间也存在一些明显的差异。飞行实验对象显示,脂肪酸代谢过程途径在几乎所有细胞类型(柱、CD4、CD8、CPT 和 LD)中都有较强的富集,尤其是在核糖核酸耗尽部分,但也包括核糖核酸的 polyA+ 部分。三个相关脂肪酸代谢途径的基因组富集分析(GSEA)结果显示,地面实验对象与飞行实验对象之间存在差异:结论:在太空飞行 1 年,去饱和酶和伸长酶基因表达似乎没有发生持续性改变。然而,这些数据提供了细胞脂质代谢对太空飞行具有反应性和动态性的证据,尽管这种反应性和动态性似乎与细胞类型和环境有关,特别是在所测量的 RNA 部分和收集方案方面。这些结果还提供了新的证据,证明选定基因的表达在飞行中期出现峰值,这可能表明在太空飞行期间对特定损伤的瞬时反应。
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引用次数: 0
Body Composition Analysis of Computed Tomography Scans in Clinical Populations: The Role of Deep Learning. 临床人群计算机断层扫描的身体成分分析:深度学习的作用。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2019-12-10 DOI: 10.1159/000503996
Michael T Paris

Background: Body composition is increasingly being recognized as an important prognostic factor for health outcomes across cancer, liver cirrhosis, and critically ill patients. Computed tomography (CT) scans, when taken as part of routine care, provide an excellent opportunity to precisely measure the quantity and quality of skeletal muscle and adipose tissue. However, manual analysis of CT scans is costly and time-intensive, limiting the widespread adoption of CT-based measurements of body composition.

Summary: Advances in deep learning have demonstrated excellent success in biomedical image analysis. Several recent publications have demonstrated excellent accuracy in comparison to human raters for the measurement of skeletal muscle, visceral adipose, and subcutaneous adipose tissue from the lumbar vertebrae region, indicating that analysis of body composition may be successfully automated using deep neural networks. Key Messages: The high accuracy and drastically improved speed of CT body composition analysis (<1 s/scan for neural networks vs. 15 min/scan for human analysis) suggest that neural networks may aid researchers and clinicians in better understanding the role of body composition in clinical populations by enabling cost-effective, large-scale research studies. As the role of body composition in clinical settings and the field of automated analysis advance, it will be critical to examine how clinicians interact with these systems and to evaluate whether these technologies are beneficial in improving treatment and health outcomes for patients.

背景:身体成分越来越被认为是癌症、肝硬化和危重患者健康结局的重要预后因素。计算机断层扫描(CT)扫描,作为常规护理的一部分,提供了一个极好的机会来精确测量骨骼肌和脂肪组织的数量和质量。然而,CT扫描的人工分析是昂贵和耗时的,限制了基于CT的身体成分测量的广泛采用。摘要:深度学习在生物医学图像分析方面取得了巨大的成功。最近的一些出版物已经证明,与人类测量骨骼肌、内脏脂肪和腰椎区域皮下脂肪组织相比,深度神经网络具有出色的准确性,这表明使用深度神经网络可以成功地自动分析身体成分。关键词:CT体成分分析精度高、速度快(
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引用次数: 20
One-Carbon Metabolism and Nonalcoholic Fatty Liver Disease: The Crosstalk between Nutrients, Microbiota, and Genetics. 单碳代谢和非酒精性脂肪性肝病:营养、微生物群和遗传学之间的串扰。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2019-12-17 DOI: 10.1159/000504602
Anna Radziejewska, Agata Muzsik, Fermín I Milagro, J Alfredo Martínez, Agata Chmurzynska

The prevalence of nonalcoholic fatty liver disease (NAFLD) is increasing worldwide. Its etiology includes nutritional, genetic, and lifestyle factors. Several mechanisms may link one-carbon metabolism - the associated metabolic pathways of folate, methionine, and choline - to the onset of NAFLD. In this review, we attempted to assess how choline, folate, methionine, and betaine affect NAFLD development, mainly through their role in the secretion of very low-density lipoproteins (VLDL) from the liver. We also reviewed recent articles that have described the relation between microbiota metabolism and NAFLD progression. Moreover, we describe the effect of single-nucleotide polymorphisms (SNP) in genes related to one-carbon metabolism and disease prevalence. We additionally seek SNP identified by genome-wide associations that may increase the risk of this disease. Even though the evidence available is not entirely consistent, it seems that the concentrations of choline, methionine, folate, and betaine may affect the progression of NAFLD. Since there is no effective therapy for NAFLD, further investigations into the link between nutrition, gut microbiota, genetic factors, and NAFLD are still necessary, with a particular emphasis on methyl donors.

非酒精性脂肪性肝病(NAFLD)的患病率在全球范围内呈上升趋势。其病因包括营养、遗传和生活方式因素。几种机制可能将单碳代谢——叶酸、蛋氨酸和胆碱的相关代谢途径——与NAFLD的发病联系起来。在这篇综述中,我们试图评估胆碱、叶酸、蛋氨酸和甜菜碱如何影响NAFLD的发展,主要是通过它们在肝脏分泌极低密度脂蛋白(VLDL)中的作用。我们还回顾了最近关于微生物群代谢与NAFLD进展之间关系的文章。此外,我们还描述了单核苷酸多态性(SNP)在与单碳代谢和疾病患病率相关的基因中的作用。我们还寻找可能增加这种疾病风险的全基因组关联鉴定的SNP。尽管现有的证据并不完全一致,但似乎胆碱、蛋氨酸、叶酸和甜菜碱的浓度可能影响NAFLD的进展。由于NAFLD没有有效的治疗方法,因此仍有必要进一步研究营养、肠道微生物群、遗传因素与NAFLD之间的联系,特别强调甲基供体。
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引用次数: 25
Interaction of DRD2/ANKK1 Taq1A Genotype with in-Store Retail Food Environment Exposures on Diet Quality in a Cohort of Quebec Adults. DRD2/ANKK1 Taq1A基因型与店内零售食品环境暴露对魁北克成人饮食质量的相互作用
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2019-12-18 DOI: 10.1159/000504603
Daiva E Nielsen, Yang Han, Catherine Paquet, Andre K Portella, Yu Ma, Laurette Dube

Background/aims: Gene-environment interactions may be relevant for nutrition outcomes. This study assessed the interaction between DRD2/ANKK1 Taq1A genotype and exposures to in-store retail food environment on diet quality.

Methods: CARTaGENE biobank data (n = 3,532) were linked to provincial food retail data. The Canadian adaptation of the Healthy Eating Index 2010 (HEI-C) was calculated from food frequency questionnaires. Generalized linear models adjusted for sociodemographic factors, anthropometrics, and energy intake were used to assess interactions between the Taq1A variant and retail food measures.

Results: A significant inverse interaction was observed between Taq1A and ice cream store displays on HEI-C score (estimate: -15.46 [95% confidence interval (CI): -24.83, -6.10], p = 0.0012) where, among allele carriers, increasing exposure to ice cream displays was associated with a lower HEI-C score as compared to allele carriers with a lower exposure. A significant positive interaction between Taq1A and price of vegetables was also observed, where, among allele carriers, increasing exposure to a higher price was associated with a higher HEI-C score compared to allele carriers with exposure to a lower price (estimate: 2.46 [95% CI: 0.78, 4.14], p = 0.0041). The opposite pattern was observed among non-carriers.

Conclusions: DRD2/ANKK1 Taq1A is associated with adaptive responses to ice cream displays and vegetable prices, suggesting a differential susceptibility to retail environment food cues.

背景/目的:基因-环境相互作用可能与营养结果有关。本研究评估了DRD2/ANKK1 Taq1A基因型与店内零售食品环境暴露对饮食质量的相互作用。方法:CARTaGENE生物银行数据(n = 3532)与省级食品零售数据相关联。加拿大2010年健康饮食指数(HEI-C)是根据食物频率问卷计算得出的。采用调整了社会人口因素、人体测量学和能量摄入的广义线性模型来评估Taq1A变异与零售食品测量之间的相互作用。结果:Taq1A和冰淇淋店陈列对HEI-C评分之间存在显著的负交互作用(估计:-15.46[95%可信区间(CI): -24.83, -6.10], p = 0.0012),其中,在等位基因携带者中,与低暴露的等位基因携带者相比,增加对冰淇淋陈列的暴露与较低的HEI-C评分相关。Taq1A与蔬菜价格之间还观察到显著的正交互作用,其中,在等位基因携带者中,与暴露于较低价格的等位基因携带者相比,暴露于较高价格的等位基因携带者与较高的HEI-C评分相关(估计:2.46 [95% CI: 0.78, 4.14], p = 0.0041)。在非携带者中观察到相反的模式。结论:DRD2/ANKK1 Taq1A与对冰淇淋陈列和蔬菜价格的适应性反应有关,表明对零售环境食物线索的不同敏感性。
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引用次数: 5
Alpinia zerumbet and Its Potential Use as an Herbal Medication for Atherosclerosis: Mechanistic Insights from Cell and Rodent Studies. 荆芥及其作为动脉粥样硬化草药的潜在用途:来自细胞和啮齿动物研究的机制见解。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-09-03 DOI: 10.1159/000508818
Ting Xiao, Jiaoyan Huang, Xiaowei Wang, Linjing Wu, Xue Zhou, Feng Jiang, Zhiyong He, Qianqian Guo, Ling Tao, Xiangchun Shen

Background/aims: Alpinia zerumbet (Pers.) Burtt. et Smith has been used as a flavor additive in food and a traditional medicine for centuries, especially in Guizhou Province, China, and it prolongs people's lives with multiple beneficial effects. Thus, one of the aims of this review was to expound the chemical constituents of this plant, especially its fruits. Since cardiovascular diseases, including atherosclerosis, pose a health threat to humans, another aim was to expound the possible mechanisms of its potential use as an herbal medication for atherosclerosis.

Methods: In this study, 10 reports are cited to expound the potential bioactive compounds. Moreover, 33 reports explain the antihypertensive and antiatherosclerotic effects of the plant by ameliorating inflammation and endothelial dysfunction, increasing vasodilation, improving hyperlipidemia, downgrading the glucose status, and working as an antioxidant.

Results: A. zerumbetis rich in terpenes, essential oils, flavonoids, polyphenolics, and sterols. Pharmacological experiments showed that A. zerumbet has antioxidative and anti-inflammatory effects on the NF-κB signaling pathway and can ameliorate oxidative stress in the NOS-NO signaling pathway. Moreover, A. zerumbet demonstrates antihypertensive effects by accelerating vasorelaxant response and increasing 3T3-L1 intracellular cAMP, which has promising antiobesity properties, as well as hypolipidemic and anti-diabetic complication effects.

Conclusions: A. zerumbet has potential functions and applications in the prevention of atherosclerosis, but further studies are required before clinical trials.

背景/目的:Alpinia zerumbet (Pers.)伯特。几个世纪以来,它一直被用作食品中的风味添加剂和传统药物,特别是在中国贵州省,它具有多种有益的作用,可以延长人们的寿命。因此,本综述的目的之一是阐述这种植物的化学成分,特别是其果实。由于心血管疾病,包括动脉粥样硬化,对人类健康构成威胁,另一个目的是阐明其作为治疗动脉粥样硬化的草药的潜在用途的可能机制。方法:引用10篇文献对其潜在的生物活性成分进行阐述。此外,有33篇报道通过改善炎症和内皮功能障碍、增加血管舒张、改善高脂血症、降低葡萄糖状态和作为抗氧化剂来解释这种植物的抗高血压和抗动脉粥样硬化作用。结果:莪术中含有丰富的萜类、精油、黄酮类、多酚类和甾醇。药理实验表明,枳实对NF-κB信号通路具有抗氧化和抗炎作用,对NOS-NO信号通路的氧化应激有改善作用。此外,枳实通过加速血管舒张反应和增加细胞内3T3-L1 cAMP,显示出抗高血压作用,具有良好的抗肥胖特性,以及降血脂和抗糖尿病并发症的作用。结论:枳实在预防动脉粥样硬化方面具有潜在的功能和应用,但在临床试验前还需进一步研究。
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引用次数: 7
The Association of Parental Genetic, Lifestyle, and Social Determinants of Health with Offspring Overweight. 父母遗传、生活方式和社会健康决定因素与后代超重的关系。
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-02-18 DOI: 10.1159/000505749
Catherine A M Graham, Charles R Pedlar, Gary Hearne, Silvia Lorente-Cebrián, Pedro González-Muniesa, Yiannis Mavrommatis

Introduction: In the UK, the number of comorbidities seen in children has increased along with the worsening obesity rate. These comorbidities worsen into adulthood. Genome-wide association studies have highlighted single nucleotide polymorphisms associated with the weight status of adults and offspring individually. To date, in the UK, parental genetic, lifestyle, and social determinants of health have not been investigated alongside one another as influencers of offspring weight status. A comprehensive obesity prevention scheme would commence prior to conception and involve parental intervention including all known risk factors. This current study aims to identify the proportion of overweight that can be explained by known parental risk factors, including genetic, lifestyle, and social determinants of health with offspring weight status in the UK.

Methods: A cross-sectional study was carried out on 123 parents. Parental and offspring anthropometric data and parental lifestyle and social determinants of health data were self-reported. Parental genetic data were collected by use of GeneFiX saliva collection vials and genotype were assessed for brain-derived neurotrophic factor (BDNF) gene rs6265, melanocortin 4 receptor (MC4R) gene rs17782313, transmembrane protein 18 (TMEM18) gene rs2867125, and serine/threonine-protein kinase (TNN13K) gene rs1514175. Associations were assessed between parental data and the weight status of offspring.

Results: Maternal body mass index modestly predicted child weight status (p < 0.015; R2 = 0.15). More mothers of overweight children carried the MC4R rs17782313 risk allele (77.8%; p = 0.007) compared to mothers of normal-weight children. Additionally, fathers who were not Caucasian and parents who slept for <7 h/night had a larger percentage of overweight children when compared to their counterparts (p = 0.039; p = 0.014, respectively).

Conclusion: Associations exist between the weight status of offspring based solely on parental genetic, lifestyle, and social determinants of health data. Further research is required to appropriately address future interventions based on genetic and lifestyle risk groups on a pre-parent cohort.

简介:在英国,随着肥胖率的恶化,儿童的合并症数量也在增加。这些合并症在成年后会恶化。全基因组关联研究强调了与成人和后代体重状况相关的单核苷酸多态性。迄今为止,在英国,父母的遗传、生活方式和健康的社会决定因素还没有作为影响后代体重状况的因素一起进行调查。一项全面的肥胖预防计划将在怀孕前开始,并涉及父母干预,包括所有已知的风险因素。目前的研究旨在确定超重的比例,可以解释已知的父母的风险因素,包括遗传,生活方式和社会决定因素的健康与后代体重状况在英国。方法:对123名家长进行横断面调查。父母和子女的人体测量数据以及父母的生活方式和健康的社会决定因素数据是自我报告的。采用GeneFiX唾液收集瓶收集亲本遗传数据,并对脑源性神经营养因子(BDNF)基因rs6265、黑素皮素4受体(MC4R)基因rs17782313、跨膜蛋白18 (TMEM18)基因rs2867125、丝氨酸/苏氨酸蛋白激酶(TNN13K)基因rs1514175进行基因型分析。评估了亲代数据与后代体重状况之间的关联。结果:母亲体重指数可适度预测儿童体重状况(p < 0.015;R2 = 0.15)。更多超重儿童的母亲携带MC4R rs17782313风险等位基因(77.8%;P = 0.007)。此外,非白种人的父亲和睡过觉的父母结论:后代的体重状况之间存在关联,这仅仅基于父母的遗传、生活方式和健康数据的社会决定因素。需要进一步的研究来适当地解决基于遗传和生活方式风险群体的未来干预措施。
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引用次数: 4
Lack of Association between LCT_rs140433552*CA>del Indel Polymorphism and Lactose Intolerance in a Southern Brazilian Population. 巴西南部人群LCT_rs140433552*CA>del Indel多态性与乳糖不耐症缺乏相关性
IF 2.6 4区 医学 Q3 GENETICS & HEREDITY Pub Date : 2020-01-01 Epub Date: 2020-07-13 DOI: 10.1159/000508509
Luana Caroline Oliveira, Andrey Lucas Dias Barros, Angelica Beate Winter Boldt, Gabriel Adelman Cipolla

Background/aims: Polymorphisms in the enhancer of the lactase gene (LCT) are strongly associated with lactase persistence, but not always predictive of the phenotype. We investigated a possible association between the regulatory rs140433552*CA>del variant of LCT and lactose intolerance (LI).

Methods: We genotyped 122 individuals for rs140433552 and rs4988235 (-13910*C>T).

Results: Associations of rs140433552*CA>del with LI depend on -13910*C>T. Homozygous individuals for the C-CA haplotype, as well as C-CA+/C individuals, seem more likely to manifest LI (OR 3.33 [95% CI 1.32-8.35], p = 0.011, and OR 3.93 [95% CI 1.61-9.61], p = 0.003, respectively), while homozygous individuals for the T-CA haplotype seem more likely to be lactose tolerant (OR 0.04 [95% CI 0.002-0.70], p = 8 × 10-4).

Conclusions: rs140433552*CA>del is not independently associated with LI.

背景/目的:乳糖酶基因增强子(LCT)的多态性与乳糖酶持久性密切相关,但并不总是预测表型。我们研究了LCT的调控rs140433552*CA>del变异与乳糖不耐症(LI)之间的可能关联。方法:对122例个体进行rs140433552和rs4988235基因分型(-13910*C>T)。结果:rs140433552*CA>del与LI的相关性依赖于-13910*C>T。C- ca单倍型纯合个体以及C- ca +/C个体似乎更容易出现LI (OR分别为3.33 [95% CI 1.32-8.35], p = 0.011, OR为3.93 [95% CI 1.61-9.61], p = 0.003),而T-CA单倍型纯合个体似乎更容易出现乳糖耐受(OR为0.04 [95% CI 0.002-0.70], p = 8 × 10-4)。结论:rs140433552*CA>del与LI不独立相关。
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Lifestyle Genomics
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