肥胖是非传染性疾病(NCD)的主要原因之一。因此,肥胖个体的非传染性疾病风险因其脂肪库的位置而异;而皮下肥胖是保护性的,内脏肥胖增加NCD风险。虽然,以前的人体测量特征已经被用来量化低收入环境中的身体形状,对于如何评估没有共识。因此,从人体测量特征的主成分分析(PCA)中得出的身体形状评估的兴趣越来越大;然而,这还没有在非洲血统的人身上探索,他们的身体形状与欧洲人不同。我们着手在其多维结构中捕获身体形状,并研究非洲血统个体的遗传变异与身体形状之间的关联。
我们进行了全基因组关联研究(GWAS),以从PCA分析乌干达普通种群队列中的人体测量特征得出的身体形状(GPC,n=6407)和南非祖鲁队列(SZC,n=2595),随后进行GWAS荟萃分析,以评估与体形相关的遗传变异.我们确定了FGF12,GRM8,TLX1NB和TRAP1中的变体与身体形状相关。这些基因不同于与BMI相关的基因,高度,体重,非洲大陆的WC和腰臀配给。值得注意的是,我们还观察到,体形的标准偏差变化与血压和血脂的升高有关。
与体形相关的变体,作为复合变量,对于个体人体测量特征的变量可能不同。需要更大规模的研究来进一步探索这些现象。
Obesity is one of the leading causes of non-communicable diseases (NCD). Thus, NCD risk varies in obese individuals based on the location of their fat depots; while subcutaneous adiposity is protective, visceral adiposity increases NCD risk. Although, previously anthropometric traits have been used to quantify body shape in low-income settings, there is no consensus on how it should be assessed. Hence, there is a growing interest to evaluate body shape derived from the principal component analysis (PCA) of anthropometric traits; however, this is yet to be explored in individuals of African ancestry whose body shape is different from those of Europeans. We set out to capture body shape in its multidimensional structure and examine the association between genetic variants and body shape in individuals of African ancestry.
We performed a genome-wide association study (GWAS) for body shape derived from PCA analysis of anthropometric traits in the Ugandan General Population Cohort (GPC, n = 6407) and the South African
Zulu Cohort (SZC, n = 2595), followed by a GWAS meta-analysis to assess the genetic variants associated with body shape. We identified variants in FGF12, GRM8, TLX1NB and TRAP1 to be associated with body shape. These genes were different from the genes been associated with BMI, height, weight, WC and waist-hip ration in continental Africans. Notably, we also observed that a standard deviation change in body shape was associated with an increase in blood pressure and blood lipids.
Variants associated with body shape, as a composite variable might be different for those of individual anthropometric traits. Larger studies are required to further explore these phenomena.