生物
全基因组关联研究
遗传学
单核苷酸多态性
1000基因组计划
插补(统计学)
单倍型
等位基因
遗传关联
优势比
基因座(遗传学)
等位基因频率
基因组
基因型
基因
内科学
医学
缺少数据
机器学习
计算机科学
作者
Kazuo Hara,Hayato Fujita,Todd A. Johnson,Toshimasa Yamauchi,Kazuki Yasuda,Momoko Horikoshi,Peng Chen,Cheng Hu,Ronald C.W.,Minako Imamura,Minoru Iwata,Tatsuhiko Tsunoda,Takashi Morizono,Nobuhiro Shojima,Wing Yee So,Ting Fan Leung,Patrick Kwan,Rong Zhang,Jie Wang,Weihui Yu
摘要
Although over 60 loci for type 2 diabetes (T2D) have been identified, there still remains a large genetic component to be clarified. To explore unidentified loci for T2D, we performed a genome-wide association study (GWAS) of 6 209 637 single-nucleotide polymorphisms (SNPs), which were directly genotyped or imputed using East Asian references from the 1000 Genomes Project (June 2011 release) in 5976 Japanese patients with T2D and 20 829 nondiabetic individuals. Nineteen unreported loci were selected and taken forward to follow-up analyses. Combined discovery and follow-up analyses (30 392 cases and 34 814 controls) identified three new loci with genome-wide significance, which were MIR129-LEP [rs791595; risk allele = A; risk allele frequency (RAF) = 0.080; P = 2.55 × 10−13; odds ratio (OR) = 1.17], GPSM1 [rs11787792; risk allele = A; RAF = 0.874; P = 1.74 × 10−10; OR = 1.15] and SLC16A13 (rs312457; risk allele = G; RAF = 0.078; P = 7.69 × 10−13; OR = 1.20). This study demonstrates that GWASs based on the imputation of genotypes using modern reference haplotypes such as that from the 1000 Genomes Project data can assist in identification of new loci for common diseases.
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