Nakano Masaki, Yui Haruka, Kikugawa Shingo, Tokida Ryosuke, Sakai Noriko, Kondo Naoki, Endo Naoto, Haro Hirotaka, Shimodaira Hiroki, Suzuki Takako, Kato Hiroyuki, Takahashi Jun, Nakamura Yukio
Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan.
DNA Chip Research Inc., Minato-ku, Tokyo, 105-0022, Japan.
Ther Clin Risk Manag. 2021 Sep 29;17:1065-1073. doi: 10.2147/TCRM.S330530. eCollection 2021.
Osteoarthritis (OA) is a common and degenerative joint disorder in the elderly. A greater importance of understanding the relationship between genetic factors and OA prevalence has emerged with population aging. We therefore investigated the associations of several bone disease-related genetic variants with the prevalence of OA and osteoporosis in Japanese elderly women from the Obuse study cohort, which was randomly sampled from a basic town resident registry.
In total, 206 female participants (mean ± standard deviation age: 69.7 ± 11.0 years) who completed OA, bone mineral density, and genotype assessments were included. The number of patients diagnosed as having knee/hip OA and osteoporosis was 59 (28.6%) and 30 (14.6%), respectively. Fisher's exact testing revealed significant relationships between the minor T allele of () rs3736228 and the prevalence of knee/hip OA and osteoporosis. The respective odds ratios (ORs) of the TT genotype for knee/hip OA and osteoporosis were 7.28 (95% confidence interval [CI] 2.22-28.08) and 5.24 (95% CI 0.95-26.98). An additional subgroup analysis for knee OA revealed that the frequency of the common C allele of () rs1801133 had a statistically significant protective association with the prevalence of knee OA (OR 0.58, 95% CI 0.35-0.97).
In sum, the present study demonstrated significant associations of rs3736228 and rs1801133 with knee/hip OA and osteoporosis prevalences and knee OA prevalence, respectively, in Japanese elderly women. These results will help further the understanding of OA pathogenesis and related genetic risk factors.
骨关节炎（OA）是老年人常见的退行性关节疾病。随着人口老龄化，了解遗传因素与OA患病率之间的关系变得越发重要。因此，我们从大桑研究队列中随机抽取了日本老年女性，调查了几种与骨病相关的基因变异与OA和骨质疏松症患病率之间的关联，该队列是从一个基础城镇居民登记处随机抽样的。
总共纳入了206名完成OA、骨密度和基因分型评估的女性参与者（平均±标准差年龄：69.7±11.0岁）。被诊断患有膝/髋OA和骨质疏松症的患者人数分别为59例（28.6%）和30例（14.6%）。费舍尔精确检验显示，（）rs3736228的次要T等位基因与膝/髋OA和骨质疏松症的患病率之间存在显著关系。TT基因型对于膝/髋OA和骨质疏松症的各自比值比（OR）分别为7.28（95%置信区间[CI]2.22 - 28.08）和5.24（95%CI 0.95 - 26.98）。对膝OA的额外亚组分析显示，（）rs1801133的常见C等位基因频率与膝OA的患病率存在统计学显著的保护关联（OR 0.58，95%CI 0.35 - 0.97）。
总之，本研究表明，在日本老年女性中，rs3736228和rs1801133分别与膝/髋OA和骨质疏松症患病率以及膝OA患病率存在显著关联。这些结果将有助于进一步理解OA的发病机制和相关遗传风险因素。
