Genome-wide association study in Han Chinese identifies three novel loci for human height

摘要

Human height is a complex genetic trait with high heritability but discovery efforts in Asian populations are limited. We carried out a meta-analysis of genome-wide association studies (GWAS) for height in 6,534 subjects with in silico replication of 1,881 subjects in Han Chinese. We identified three novel loci reaching the genome-wide significance threshold (P 5 × 10-8), which mapped in or near ZNF638 (rs12612930, P = 2.02 × 10-10), MAML2 (rs11021504, P = 7.81 × 10 -9), and C18orf12 (rs11082671, P = 1.87 × 10-8). We also confirmed two loci previously reported in European populations including CS (rs3816804, P = 2.63 × 10-9) and CYP19A1 (rs3751599, P = 4.80 × 10-10). In addition, we provided evidence supporting 35 SNPs identified by previous GWAS (P 0.05). Our study provides new insights into the genetic determination of biological regulation of human height.