Szymański K, Bednarczuk T, Krajewski P, Płoski R
Department of Medical Genetics, Centre for Biostructure, Medical University of Warsaw, Warsaw, Poland.
Tissue Antigens. 2012 May;79(5):380-3. doi: 10.1111/j.1399-0039.2012.01854.x.
Recently Chu et al. conducted a genome-wide association study in a Chinese Han population and identified two novel Graves' disease (GD) susceptibility loci within 4p14 (rs6832151) and 6q27 (rs9355610). Our purpose was to replicate these associations in a Polish Caucasian population. We analyzed rs6832151 and rs9355610 genotypes in a case-control study based on 560 GD patients and 1475 unrelated controls using TaqMan assays. Our study had the power of 0.8 and 0.6 to detect the effects originally reported for rs6832151 and rs9355610, respectively. We found an association between GD and the rs6832151 G allele (odds ratio OR = 1.27, P = 0.002). Analysis of model of inheritance suggested that the dominant model should be preferred (P(fit) = 0.938, OR = 1.39, P = 0.001). For rs9355610 a formally significant effect was observed assuming a recessive model (OR = 1.24, P = 0.028), whereas analysis of allele distribution showed a trend for association (OR = 1.14,95%, P = 0.082). Our findings are the first to show that rs6832151 and possibly rs9355610 contribute to GD pathogenesis also in Caucasians.
最近，Chu等人在中国汉族人群中开展了一项全基因组关联研究，并在4p14（rs6832151）和6q27（rs9355610）区域内鉴定出两个新的格雷夫斯病（GD）易感基因座。我们的目的是在波兰白种人群中重复这些关联研究。我们采用TaqMan分析方法，在一项基于560例GD患者和1475名无关对照的病例对照研究中，分析了rs6832151和rs9355610的基因型。我们的研究分别有80%和60%的把握度来检测最初报道的rs6832151和rs9355610的效应。我们发现GD与rs6832151的G等位基因之间存在关联（优势比OR = 1.27，P = 0.002）。遗传模式分析表明，显性模式更为合适（拟合优度P = 0.938，OR = 1.39，P = 0.001）。对于rs9355610，在隐性模式下观察到了具有统计学意义的效应（OR = 1.24，P = 0.028），而等位基因分布分析显示存在关联趋势（OR = 1.14，95%CI，P = 0.082）。我们的研究首次表明，rs6832151以及可能的rs9355610在白种人中也对GD的发病机制有影响。
