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Confirmation that SNPs in the high mobility group‐A2 gene (HMGA2) are associated with adult height in the Japanese population; wide‐ranging population survey of height‐related SNPs in HMGA2
Authors:Haruo Takeshita  Junko Fujihara  Mikiko Soejima  Yoshiro Koda  Kaori Kimura‐Kataoka  Rei‐Ichiro Ono  Isao Yuasa  Reiko Iida  Misuzu Ueki  Masataka Nagao  Toshihiro Yasuda
Institution:1. Department of Legal Medicine, Shimane University School of Medicine, Enya, Izumo, Shimane, Japan;2. Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Fukuoka, Japan;3. Department of Experimental Animals, Center for Integrated Research in Science, Shimane University School of Medicine, Shimane, Japan;4. Division of Legal Medicine, Faculty of Medicine, Tottori University, Tottori, Japan;5. Division of Life Sciences, Faculty of Medical Sciences, University of Fukui, Fukui, Japan;6. Division of Medical Genetics and Biochemistry, Faculty of Medical Sciences, University of Fukui, Fukui, Japan;7. Department of Legal Medicine, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan
Abstract:Adult height is a highly heritable trait in that multiple genes are involved. Recent genome‐wide association studies have identified a novel single‐nucleotide polymorphism (SNP) rs1042725 in the high mobility group‐A2 gene (HMGA2) and shown it to be associated with human height in Caucasian populations. We performed a replication study to examine the associations between SNPs in HMGA2 and adult height in the Japanese population based on autopsy cases. Although we could not confirm a significant association between rs1042725 in HMGA2 and adult height, another SNP, rs7968902, in the gene achieved significance for its association in the same populations, and the effect was the same as that documented previously. These findings permit us to conclude that the SNPs in HMGA2 are common variants influencing human height across different populations. Moreover, a worldwide population study of these SNPs using 14 different populations including Asians, Africans and Caucasians demonstrated that both haplotypes and genotypes for three height‐related SNPs (rs1042725, rs7968682 and rs7968902) in HMGA2 were distributed in an ethnicity‐dependent manner. This information will be useful for clarifying the genetic basis of human height.
Keywords:Ethnic difference  HMGA2  Japanese  Population survey  SNPs
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