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Hum Genet. 2013 Jun;132(6):681-9. doi: 10.1007/s00439-013-1280-9. Epub 2013 Mar 3.

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

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State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.


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.

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