Association between CALM1 gene polymorphisms and osteoarthritis risk: a systematic review and meta-analysis
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE
Authors: Wang, Yangxin; Zhong, Fuhua; Hong, Jianqiao; Meng, Jiahong; Yang, Yute; Yan, Shigui; Wang, Wei
Abstract
Objective: The results of the association between CALM1 gene polymorphisms and osteoarthritis (OA) have been inconsistent. Our aim was to determine whether CALM1 rs12885713 and rs3213718 polymorphisms are associated with susceptibility to OA. Methods: PubMed, Embase, and ISI Web of Science databases were searched to identify relevant studies. Pooled odds ratios (ORs) with a 95% confidence interval (CI) were calculated to assess the association between CALM1 polymorphisms and OA susceptibility. We also conducted subgroup analysis stratified by ethnicity, OA site, and gender. Results: Five studies with 5051 participants (2292 OA patients and 2759 controls) were enrolled in this study. The combined results revealed no significant association between CALM1 rs12885713 polymorphism and OA risk (allele model: OR 1.09, 95% CI 0.98-1.21; dominant model: OR 1.10, 95% CI 0.93-1.30; recessive model: OR 1.41, 95% CI 0.88-2.26; homozygote model: OR 1.44, 95% CI 0.91-2.29; heterozygote model: OR 1.03, 95% CI 0.86-1.23). Subgroup analysis stratified by ethnicity suggested that TT genotype was associated with increased risk of OA in Asians (recessive model: OR 2.21, 95% CI 1.39-3.50; homozygote model: OR 2.20, 95% CI 1.37-3.54), but not in Caucasians. The pooled results revealed no significant association between CALM1 rs3213718 polymorphism and the risk of OA in the overall population or in each subgroup population. Conclusion: This meta-analysis suggested the TT genotype of CALM1 rs12885713 polymorphism significantly increased the risk of OA in Asians. In contrast, CALM1 rs3213718 polymorphism was not associated with OA risk. Due to the limitations of our study, further well-designed studies are required.
A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene
RHEUMATOLOGY
Authors: Mu, Shu-Chi; Liu, Hwa-Chang; Wu, Jer-Yuarn; Lee, Ming-Ta Michael; Chuang, Hui-Ping; Chen, Liang-Kuang; Chen, Yuan-Tsong
Abstract
Objectives. To characterize a large extended family with early-onset OA of the knee and investigate its associations with the COL2A1 gene. Methods. Phenotype assessments were conducted in a six-generation family to identify individuals affected with OA. Short tandem repeat polymorphic (STRP) markers and DNA sequencing were performed to investigate the involvement of the COL2A1 gene in this family. Results. The kindred affected with OA showed autosomal dominant inheritance. The mean age of onset was 37.3 19.2, 29.8 13.7 and 12.0 7.2 years for generations IV, V and VI, respectively, and 25 16.1 years for males and 34.3 15.5 years for females. The height of the affected males was shorter than the unaffected males (155.9 11.4 vs 164.5 16.0 cm, P 0.010). Arm span in the affected males was also significantly shorter than the unaffected males (158.4 12.5 vs 165.3 16.7 cm, P 0.027). However, both height and arm span were not reduced in the affected female OA patients. STRP markers surrounding COL2A1 locus did not show linkage of the COL2A1 locus with the OA. Sequencing of COL2A1 gene revealed three single nucleotide polymorphisms but no mutation was found in the affected patients. Conclusions. The COL2A1 was not a susceptibility gene responsible for the OA phenotype in a large extended kindred with familial early-onset OA. The availability of DNA samples will allow genome-wide linkage study to identify the susceptibility locus.