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探讨巴西里约热内卢人群中欧洲、非洲、美洲原住民基因组血统与 MC4R、FTO、FAIM2、BDNF 基因座与肥胖相关特征的关联。

Investigation of associations of European, African, Amerindian genomic ancestries and MC4R, FTO, FAIM2, BDNF loci with obesity-related traits in Rio de Janeiro, Brazil.

机构信息

State University of Rio de Janeiro (UERJ), DNA Diagnostic Laboratory, São Francisco Xavier Street, 524, 20550-900 Rio de Janeiro, RJ, Brazil.

State University of Rio de Janeiro (UERJ), Institute of Nutrition, São Francisco Xavier Street, 524, 20550-900 Rio de Janeiro, RJ, Brazil.

出版信息

An Acad Bras Cienc. 2023 Mar 10;95(suppl 1):e20220052. doi: 10.1590/0001-3765202320220052. eCollection 2023.

DOI:10.1590/0001-3765202320220052
PMID:36921152
Abstract

A complex web of causation is involved in adiposity, including environmental, social and genetic factors. We aimed to investigate associations between genetic factors such as ancestry and single nucleotide polymorphisms, and obesity-related traits in a sampled Brazilian population. A sample of 501 unrelated adults participating in 2013 at the longitudinal Pró-Saúde Study (EPS) in Rio de Janeiro, Brazil was selected. We analysed 46 AIM-InDels (insertion/deletion) as genetic ancestry markers and four single nucleotide polymorphisms located in the genes MC4R (rs17782313), FTO (rs9939609), FAIM2 (rs7138803) and BDNF (rs4074134), previously described as associated with obesity. The selected obesity-related markers were anthropometric parameters such as body mass index, waist circumference and waist-to-hip ratio, and body composition measurements namely body fat percentage, android fat mass and gynoid fat mass. The sample showed greater European ancestry (57.20%), followed by African (28.80%) and lastly Amerindian (14%). Our results suggest that the rs4074134 (BDNF) CC genotype was directly associated with gynoid fat mass, whereas body fat percentage, android fat mass and the anthropometric parameters seem not to be associated with neither ancestry nor the four polymorphisms in this population sample, most likely due to a stronger role of social, behavioural and environmental determinants.

摘要

肥胖涉及到复杂的因果关系网络,包括环境、社会和遗传因素。我们旨在研究遗传因素(如祖先和单核苷酸多态性)与巴西人群肥胖相关特征之间的关联。选择了 2013 年在巴西里约热内卢进行的纵向 Pro-Saúde 研究(EPS)中 501 名无血缘关系的成年人组成的样本。我们分析了 46 个 AIM-InDels(插入/缺失)作为遗传祖先标记和位于 MC4R(rs17782313)、FTO(rs9939609)、FAIM2(rs7138803)和 BDNF(rs4074134)基因中的四个单核苷酸多态性,这些基因先前与肥胖有关。所选的肥胖相关标记物是人体测量参数,如体重指数、腰围和腰臀比,以及身体成分测量值,即体脂肪百分比、安卓脂肪量和女性脂肪量。该样本显示出更大的欧洲祖先(57.20%),其次是非洲(28.80%),最后是美洲印第安人(14%)。我们的结果表明,rs4074134(BDNF)CC 基因型与女性脂肪量直接相关,而体脂肪百分比、安卓脂肪量和人体测量参数似乎与该人群样本中的祖先或四个多态性均无关联,这很可能是由于社会、行为和环境决定因素的作用更强。

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