Jinhua Wang1, Chen Zhang2, Stephen G Wu3, Chi Shang4, Lun Huang1, Tong Zhang1, Wen Zhang1, Yanping Zhang1, Lei Zhang1. 1. 1 Department of Laboratory Medicine, The Second Affiliated Hospital of Xi'an Jiaotong University , Xi'an, China . 2. 2 The First Department of Orthopedic, The Second Affiliated Hospital of Xi'an Jiaotong University , Xi'an, China . 3. 3 Department of Energy, Environment and Chemical Engineering, Washington University , Saint Louis, Missouri. 4. 4 Department of Hand Surgery, Honghui Affiliated Hospital of Xi'an Jiaotong University , Xi'an, China .
Abstract
OBJECTIVE: In a recent study single nucleotide polymorphisms (SNPs) in the COL11A1 gene were found to be associated with hip osteoarthritis (OA) among European populations. In this study, our aim was to identify common genetic variants in COL11A1 predisposing to primary hip OA in Han Chinese individuals. METHODS: We designed a case-control study that included 313 hip OA patients and 911 unrelated healthy controls. Fourteen tagging single-nucleotide polymorphisms (SNPs) were genotyped, and single SNP and haplotypic association analyses were performed. RESULTS: Two SNPs (rs1241164 and rs4907986) were found to be significantly associated with hip OA risk (adjusted p = 0.000731 and 0.000477). An increased risk of OA was associated with possession of the C allele of rs1241164 (adjusted odds ratio [OR] = 1.73, 95% confidence interval [CI] = 1.27-2.36) and the T allele of rs4907986 (adjusted OR = 1.72, 95% CI = 1.24-2.35). Similar results were confirmed via genotypic association analyses. Moreover, two different haplotype blocks, including rs1241164 and rs4907986, respectively, were found to be strongly associated with hip OA risk as well. CONCLUSION: Variants in the COL11A1 gene modify individual susceptibility to hip OA in the Han Chinese population.
OBJECTIVE: In a recent study single nucleotide polymorphisms (SNPs) in the COL11A1 gene were found to be associated with hip osteoarthritis (OA) among European populations. In this study, our aim was to identify common genetic variants in COL11A1 predisposing to primary hip OA in Han Chinese individuals. METHODS: We designed a case-control study that included 313 hip OA patients and 911 unrelated healthy controls. Fourteen tagging single-nucleotide polymorphisms (SNPs) were genotyped, and single SNP and haplotypic association analyses were performed. RESULTS: Two SNPs (rs1241164 and rs4907986) were found to be significantly associated with hip OA risk (adjusted p = 0.000731 and 0.000477). An increased risk of OA was associated with possession of the C allele of rs1241164 (adjusted odds ratio [OR] = 1.73, 95% confidence interval [CI] = 1.27-2.36) and the T allele of rs4907986 (adjusted OR = 1.72, 95% CI = 1.24-2.35). Similar results were confirmed via genotypic association analyses. Moreover, two different haplotype blocks, including rs1241164 and rs4907986, respectively, were found to be strongly associated with hip OA risk as well. CONCLUSION: Variants in the COL11A1 gene modify individual susceptibility to hip OA in the Han Chinese population.