Llanaj Erand, Pikó Péter, Nagy Károly, Rácz Gábor, János Sándor, Kósa Zsigmond, Fiatal Szilvia, Ádány Róza
Public Health Research Institute, University of Debrecen, H-4028 Debrecen, Kassai St 26/B, Hungary.
Doctoral School of Health Sciences, University of Debrecen, H-4028 Debrecen, Kassai St 26/B, Hungary.
Genes (Basel). 2020 May 6;11(5):516. doi: 10.3390/genes11050516.
Investigations on the impact of genetic factors on the development of obesity have been limited regarding the Roma population-the largest and most vulnerable ethnic minority in Europe of Asian origin. Genetic variants identified from genetic association studies are primarily from European populations. With that in mind, we investigated the applicability of data on selected obesity-related single nucleotide polymorphisms (SNPs), obtained from the Hungarian general (HG) population of European origin, on the Hungarian Roma (HR) population. Twenty preselected SNPs in susceptible alleles, known to be significantly associated with obesity-related phenotypes, were used to estimate the effect of these SNPs on body mass index (BMI) and waist circumference (WC) in HG ( = 1783) and HR ( = 1225) populations. Single SNP associations were tested using linear and logistic regression models, adjusted for known covariates. Out of 20 SNPs, four located in (rs1121980, rs1558902, rs9939609, and rs9941349) showed strong association with BMI and WC as continuous variables in both samples. Computations based on Adult Treatment Panel III (ATPIII) and the International Diabetes Federation's (IDF) European and Asian criteria showed rs9941349 in to be associated only with WC among both populations, and two SNPs (rs2867125, rs6548238) in associated with WC only in HG population. A substantial difference (both in direction and effect size) was observed only in the case of rs1801282 in on WC as a continuous outcome. Findings suggest that genetic risk scores based on counting SNPs with relatively high effect sizes, defined based on populations with European ancestry, can sufficiently allow estimation of genetic susceptibility for Roma. Further studies are needed to clarify the role of SNP(s) with protective effect(s).
关于遗传因素对肥胖症发展的影响的研究，在罗姆人群体（欧洲最大且最脆弱的亚洲裔少数族裔）方面一直很有限。从基因关联研究中识别出的基因变异主要来自欧洲人群。考虑到这一点，我们研究了从欧洲裔匈牙利普通人群（HG）获得的选定肥胖相关单核苷酸多态性（SNP）数据在匈牙利罗姆人群体（HR）中的适用性。使用20个预先选定的易感等位基因中的SNP，已知这些SNP与肥胖相关表型显著相关，来估计这些SNP对HG人群（n = 1783）和HR人群（n = 1225）体重指数（BMI）和腰围（WC）的影响。使用线性和逻辑回归模型测试单个SNP关联，并针对已知协变量进行调整。在20个SNP中，位于FTO基因座的4个SNP（rs1121980、rs1558902、rs9939609和rs9941349）在两个样本中均显示与作为连续变量的BMI和WC有强关联。基于成人治疗小组第三次报告（ATPIII）以及国际糖尿病联盟（IDF）的欧洲和亚洲标准进行的计算表明，FTO基因座中的rs9941349在两个人群体中仅与WC相关，而MC4R基因座中的两个SNP（rs2867125、rs6548238）仅在HG人群中与WC相关。仅在MC4R基因座中的rs1801282作为连续结果对WC的影响方面观察到了显著差异（在方向和效应大小上）。研究结果表明，基于对具有相对较大效应大小的SNP进行计数的遗传风险评分（基于欧洲血统人群定义）能够充分估计罗姆人的遗传易感性。需要进一步研究以阐明具有保护作用的SNP的作用。
