학술논문
Genome-wide association study in Han Chinese identifies three novel loci for human height
Document Type
Academic Journal
Author
Source
Human Genetics. June 1, 2013, Vol. 132 Issue 6, p681, 9 p.
Subject
Language
English
ISSN
0340-6717
Abstract
Introduction Human height is a complex genetic trait that involves multiple loci with heritability estimates of over 80 % (Silventoinen et al. 2003). Insights into the genetic determination of height [...]
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 x [10.sup.-8]), which mapped in or near ZNF638 (rs12612930, P = 2.02 x [10.sup.-10]), MAML2 (rs11021504, P = 7.81 x [10.sup.-9]), and C18orf12 (rs11082671, P = 1.87 x [10.sup.-8]). We also confirmed two loci previously reported in European populations including CS (rs3816804, P = 2.63 x [10.sup.-9]) and CYP19A1 (rs3751599, P = 4.80 x [10.sup.-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.
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 x [10.sup.-8]), which mapped in or near ZNF638 (rs12612930, P = 2.02 x [10.sup.-10]), MAML2 (rs11021504, P = 7.81 x [10.sup.-9]), and C18orf12 (rs11082671, P = 1.87 x [10.sup.-8]). We also confirmed two loci previously reported in European populations including CS (rs3816804, P = 2.63 x [10.sup.-9]) and CYP19A1 (rs3751599, P = 4.80 x [10.sup.-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.