title: Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.
abstract: Human stature, as an important physical index in clinical practice and a usual covariate in gene mapping of complex disorders, is a highly heritable complex trait. To identify specific genes underlying stature, a genome-wide association study was performed in 1000 unrelated homogeneous Caucasian subjects using Affymetrix 500K arrays. A group of seven contiguous markers in the region of SBF2 gene (Set-binding factor 2) are associated with stature, significantly so at the genome-wide level after false discovery rate (FDR) correction (FDR q = 0.034-0.042). Three SNPs in another SNP group in the Filamin B (FLNB) gene were also associated with stature, significantly so with FDR q = 0.042-0.048. In follow-up independent replication studies, rs10734652 in the SBF2 gene was significantly (P = 0.036) and suggestively (P = 0.07) associated with stature in Caucasian families and 1306 unrelated Caucasian subjects, respectively, and rs9834312 in the FLNB gene was also associated with stature in such two independent Caucasian populations (P = 0.008 in unrelated sample and P = 0.049 in family sample). Particularly, additional significant replication association signals were detected in Chinese, an ethnic population different from Caucasian, between rs9834312 and stature in 619 unrelated northern Chinese subjects (P = 0.017), as well as between rs10734652 and stature in 2953 unrelated southern Chinese subjects (P = 0.048). This study also provides additional replication evidence for some of the already published stature loci. These results, together with the known functional relevance of the SBF2 and FLNB genes to skeletal linear growth and bone formation, support that two regions containing FLNB and SBF2 genes are two novel loci underlying stature variation.
authors.affiliation: Hunan Normal University, Changsha, PR China.
authors.forename: Shu-Feng
authors.initials: SF
authors.lastname: Lei
authors.forename: Li-Jun
authors.initials: LJ
authors.lastname: Tan
authors.forename: Xiao-Gang
authors.initials: XG
authors.lastname: Liu
authors.forename: Liang
authors.initials: L
authors.lastname: Wang
authors.forename: Han
authors.initials: H
authors.lastname: Yan
authors.forename: Yan-Fang
authors.initials: YF
authors.lastname: Guo
authors.forename: Yao-Zhong
authors.initials: YZ
authors.lastname: Liu
authors.forename: Dong-Hai
authors.initials: DH
authors.lastname: Xiong
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Tie-Lin
authors.initials: TL
authors.lastname: Yang
authors.forename: Xiang-Ding
authors.initials: XD
authors.lastname: Chen
authors.forename: Yan
authors.initials: Y
authors.lastname: Guo
authors.forename: Fei-Yan
authors.initials: FY
authors.lastname: Deng
authors.forename: Yin-Ping
authors.initials: YP
authors.lastname: Zhang
authors.forename: Xue-Zhen
authors.initials: XZ
authors.lastname: Zhu
authors.forename: Shawn
authors.initials: S
authors.lastname: Levy
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Papasian
authors.forename: James J
authors.initials: JJ
authors.lastname: Hamilton
authors.forename: Robert R
authors.initials: RR
authors.lastname: Recker
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Deng
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D001827:Body Height; D003285:Contractile Proteins / Q000235:genetics*; D005260:Female; D064448:Filamins; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D003285:Contractile Proteins; C578662:FLNB protein, human; D064448:Filamins; D008840:Microfilament Proteins; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C475072:SBF2 protein, human