Ozcan Seda Sabah, Korkmaz Murat, Balbaloglu Ozlem, Percin Ferda, Yilmaz Neziha, Erdogan Yalcin, Gunaydin Ilhan
Department of Medical Biology, Faculty of Medicine, Bozok University, Yozgat, Turkey.
Department of Orthopedics and Traumatology, Faculty of Medicine, Bozok University, Yozgat, Turkey.
J Coll Physicians Surg Pak. 2017 Oct;27(10):602-605.
To identify the frequency of the rs143383 SNPin the GDF5 gene, which is located in the 5'-untranslated region of Turkish population with knee osteoarthritis (OA).
Acase-control study.
Orthopedics and Traumatology Department, Bozok University Medical Faculty, Yozgat, Turkey, from 2012 to 2014.
Patients diagnosed with OA(n=94) and patients who did not have joint complaints (n=279) were enrolled in this study. Patients diagnosed with osteoarthritis according to the 1986 American College of Rheumatology osteoarthritis criteria and Kellgren and Lawrence scores were investigated, based on age, gender, and X-ray findings. Blood samples were taken for the identification of GDF5 (rs143383) SNPs by PCR/RFLP, according to a standard protocol.
This study included 373 patients. The OAgroup (25.2%; n=94) was characterized by specific genotypes: TT (39.4%; n=37); heterozygotes (TC; 45.7%; n=43); and homozygotes (CC; 14.9%; n=14). The control group (74.8%; n=279) was comprised of TT(26.5%; n=74), TC (54.8%; n=153), and CC (18.6%; n=52) genotypes. An analysis of rs143383 SNP of the GDF5 gene polymorphism revealed that the rs143383 TTgenotype had a higher risk for OA(crude OR=1.798, 95% CI=1.010-2.941, p=0.021).
This study demonstrated that there is a correlation of +104T/C polymorphism in the 5'-UTR of GDF5 with knee OAin a Turkish population.
确定位于5'-非翻译区的生长分化因子5（GDF5）基因中rs143383单核苷酸多态性（SNP）在土耳其膝关节骨关节炎（OA）患者中的出现频率。
病例对照研究。
2012年至2014年，土耳其约兹加特市博佐克大学医学院骨科与创伤科。
本研究纳入了诊断为OA的患者（n = 94）和无关节疾病主诉的患者（n = 279）。根据1986年美国风湿病学会骨关节炎标准和凯尔格伦与劳伦斯评分诊断为骨关节炎的患者，基于年龄、性别和X线检查结果进行研究。按照标准方案，采集血样，通过聚合酶链反应/限制性片段长度多态性分析（PCR/RFLP）鉴定GDF5（rs143383）SNP。
本研究共纳入373例患者。OA组（25.2%；n = 94）具有特定的基因型：TT（39.4%；n = 37）；杂合子（TC；45.7%；n = 43）；纯合子（CC；14.9%；n = 14）。对照组（74.8%；n = 279）由TT（26.5%；n = 74）、TC（54.8%；n = 153）和CC（18.6%；n = 52）基因型组成。对GDF5基因多态性的rs143383 SNP分析显示，rs143383 TT基因型患OA的风险更高（粗优势比=1.798，95%置信区间=1.010 - 2.941，p = 0.021）。
本研究表明，GDF5基因5'-非翻译区的+104T/C多态性与土耳其人群的膝关节OA存在相关性。
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