title: Genome-wide association study identifies HMGN3 locus for spine bone size variation in Chinese.
abstract: Bone size (BS) is one of the major risk factors for osteoporotic fractures. BS variation is genetically determined to a substantial degree with heritability over 50%, but specific genes underlying variation of BS are still largely unknown. To identify specific genes for BS in Chinese, initial genome-wide association scan (GWAS) study and follow-up replication study were performed. In initial GWAS study, a group of 12 contiguous single-nucleotide polymorphism (SNP)s, which span a region of ~25 kb and locate at the upstream of HMGN3 gene (high-mobility group nucleosomal binding domain 3), achieved moderate association signals for spine BS, with P values ranging from 6.2E-05 to 1.8E-06. In the follow-up replication study, eight of the 12 SNPs were detected suggestive replicate associations with BS in 1,728 unrelated female Caucasians, which have well-known differences from Chinese in ethnic genetic background. The SNPs in the region of HMGN3 gene formed a tightly combined haplotype block in both Chinese and Caucasians. The results suggest that the genomic region containing HMGN3 gene may be associated with spine BS in Chinese.
authors.affiliation: Laboratory of Molecular and Statistical Genetics and the Key Laboratory of Protein Chemistry and Developmental Biology of Ministry of Education, College of Life Sciences, Hunan Normal University, Changsha 410081, Hunan, People's Republic of China. lei@hunnu.edu.cn
authors.forename: Shu-Feng
authors.initials: SF
authors.lastname: Lei
authors.forename: Hui
authors.initials: H
authors.lastname: Shen
authors.forename: Tie-Lin
authors.initials: TL
authors.lastname: Yang
authors.forename: Yan
authors.initials: Y
authors.lastname: Guo
authors.forename: Shan-Shan
authors.initials: SS
authors.lastname: Dong
authors.forename: Xiang-Hong
authors.initials: XH
authors.lastname: Xu
authors.forename: Fei-Yan
authors.initials: FY
authors.lastname: Deng
authors.forename: Qing
authors.initials: Q
authors.lastname: Tian
authors.forename: Yong-Jun
authors.initials: YJ
authors.lastname: Liu
authors.forename: Yao-Zhong
authors.initials: YZ
authors.lastname: Liu
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Deng
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study; D024001:HMGN Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013131:Spine / Q000033:anatomy & histology*
chemical_list: D024001:HMGN Proteins; C543894:HMGN3 protein, human