背景:尿白蛋白排泄(UAE)是心血管疾病的危险因素,代谢综合征,慢性肾病,等。仅在欧洲人群中进行了一些针对阿联酋的全基因组关联研究(GWAS),但不是亚洲人口。在这里,我们进行了GWAS,并确定了几个具有单核苷酸多态性(SNP)的候选基因,这些基因在日本人群中负责阿联酋。
方法:我们根据东北医疗超级银行组织(ToMMo)和岩手东北医疗超级银行组织(IMM)收集的健康调查数据,对7805名亚洲血统的UAE进行了GWAS。用SNP微阵列获得SNP基因型数据。在使用由2000年基因组测序组成的单倍型小组进行估算后,4,962,728个SNP标记用于GWAS。
结果:14个基因座的18个SNP(GRM7,EXOC1/NMU,LPA,STEAP1B/RAPGEF5,SEMA3D,PRKAG2,TRIQK,SERTM1,TPT1-AS1,OR5AU1,TSHR,FMN1/RYR3,COPRS,和BRD1)与日本人的阿联酋有关。在TSHR上观察到一个具有特别强关联的基因座,14号染色体[rs116622332(p=3.99×10-10)]。
结论:在这项研究中,我们在日本人群中成功鉴定了阿联酋相关变异位点.需要进一步的研究来确认这种关联。
BACKGROUND: Urinary albumin excretion (UAE) is a risk factor for cardiovascular diseases, metabolic syndrome, chronic kidney disease, etc. Only a few genome-wide association studies (GWAS) for UAE have been conducted in the European population, but not in the Asian population. Here we conducted GWAS and identified several candidate genes harboring single nucleotide polymorphisms (SNPs) responsible for UAE in the Japanese population.
METHODS: We conducted GWAS for UAE in 7805 individuals of Asian ancestry from health-survey data collected by Tohoku Medical Megabank Organization (ToMMo) and Iwate Tohoku Medical Megabank Organization (IMM). The SNP genotype data were obtained with a SNP microarray. After imputation using a haplotype panel consisting of 2000 genome sequencing, 4,962,728 SNP markers were used for the GWAS.
RESULTS: Eighteen SNPs at 14 loci (GRM7, EXOC1/NMU, LPA, STEAP1B/RAPGEF5, SEMA3D, PRKAG2, TRIQK, SERTM1, TPT1-AS1, OR5AU1,
TSHR, FMN1/RYR3, COPRS, and BRD1) were associated with UAE in the Japanese individuals. A locus with particularly strong associations was observed on
TSHR, chromosome 14 [rs116622332 (p = 3.99 × 10-10)].
CONCLUSIONS: In this
study, we successfully identified UAE-associated variant loci in the Japanese population. Further
study is required to confirm this association.