Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes
Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes
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DOI：
10.1093/hmg/ddq156
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发表时间：
2010-07-01
影响因子：
3.5
通讯作者：
Hu, Frank B.
中科院分区：
文献类型：
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作者：
Qi, Lu;Cornelis, Marilyn C.;Hu, Frank B.
为了确定2型糖尿病（T2 D）易感基因位点，我们对来自两项前瞻性队列研究的巢式病例对照样本进行了全基因组关联（GWA）扫描，其中包括2591名欧洲血统的患者和3052名对照。在11项独立的GWA研究中进行了验证，其中包括10870例病例和73735例对照。我们在2 q24的RBMS 1和ITGB 6基因附近发现了显著相关的变异，最好的代表是SNP rs7593730（合并OR = 0.90，95%CI = 0.86-0.93; P = 3.7 x 10（-8））。降低风险的等位基因T的频率为0.23。在MAGIC联合体中，该区域的变异与较低的空腹血糖和HOMA-IR名义上相关（P < 0.05）。这些数据表明，2 q24位点可能通过影响糖代谢和胰岛素抵抗来影响T2 D风险。
To identify type 2 diabetes (T2D) susceptibility loci, we conducted genome-wide association (GWA) scans in nested case-control samples from two prospective cohort studies, including 2591 patients and 3052 controls of European ancestry. Validation was performed in 11 independent GWA studies of 10 870 cases and 73 735 controls. We identified significantly associated variants near RBMS1 and ITGB6 genes at 2q24, best-represented by SNP rs7593730 (combined OR = 0.90, 95% CI = 0.86-0.93; P = 3.7 x 10(-8)). The frequency of the risk-lowering allele T is 0.23. Variants in this region were nominally related to lower fasting glucose and HOMA-IR in the MAGIC consortium (P < 0.05). These data suggest that the 2q24 locus may influence the T2D risk by affecting glucose metabolism and insulin resistance.