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MTHFR 基因多态性 C677T(rs1801133)与南印度人群原发性早发性膝骨关节炎的相关性:一项基于医院的研究。

Association of MTHFR gene polymorphism C677T (rs1801133) studies with early primary knee osteoarthritis in a South Indian population: a hospital-based study.

机构信息

Dept of Genetics and Molecular Medicine, Kamineni Life Sciences, Moula-Ali, Hyderabad, 500040.

Dept of Genetics and Molecular Medicine, Kamineni Academy of Medical Sciences and Research Centre, LB Nagar, Hyderabad, 500078.

出版信息

Afr Health Sci. 2022 Mar;22(1):338-343. doi: 10.4314/ahs.v22i1.41.

DOI:10.4314/ahs.v22i1.41
PMID:36032496
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9382509/
Abstract

Osteoarthritis (OA) is the most commonly occurring disease of middle and elderly population, which is characterized by focal loss of joint articular cartilage, osteophyte formation and sub chondral bone remodeling. Classical risk factors of OA include age, gender, weight, joint injury, trauma, however hereditary component is one of the main crucial factors. Several genome wide association studies and candidate gene approaches have identified genetic variants involved in the influence and association of OA. In the current study influence of Methylene tetra hydro folate reductase MTHFR C677T (rs1801133) gene with early primary knee OA was evaluated. In this study 400 samples were included (200 cases & 200 controls). DNA was extracted & processed for PCR- RFLP evaluation and genotype analysis. Statistical analysis was performed & results indicated a lack of association between MTHFR gene polymorphism and early primary KOA. The stratification was done based on age & gender and also both. Individual's i.e females below the age of 40 years are more prone to the disease when compared with males. MTHFR gene polymorphism showed a lack of association with early primary knee osteoarthritis. To the best of our knowledge this is the first study from south India.

摘要

骨关节炎(OA)是中老年人最常见的疾病,其特征为关节软骨局灶性丧失、骨赘形成和软骨下骨重塑。OA 的经典危险因素包括年龄、性别、体重、关节损伤、创伤,但遗传因素是主要关键因素之一。几项全基因组关联研究和候选基因方法已经确定了与 OA 影响和关联相关的遗传变异。在本研究中,评估了亚甲基四氢叶酸还原酶 MTHFR C677T(rs1801133)基因对早期原发性膝 OA 的影响。在这项研究中,纳入了 400 个样本(200 例病例和 200 例对照)。提取并处理 DNA 进行 PCR-RFLP 评估和基因型分析。进行了统计分析,结果表明 MTHFR 基因多态性与早期原发性 KOA 之间缺乏关联。根据年龄和性别进行分层,也进行了两者的分层。与男性相比,年龄在 40 岁以下的女性更容易患这种疾病。MTHFR 基因多态性与早期原发性膝骨关节炎缺乏关联。据我们所知,这是来自印度南部的第一项研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0079/9382509/4c163f618820/AFHS2201-0338Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0079/9382509/59678f93a620/AFHS2201-0338Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0079/9382509/0e29735089a6/AFHS2201-0338Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0079/9382509/4c163f618820/AFHS2201-0338Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0079/9382509/59678f93a620/AFHS2201-0338Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0079/9382509/0e29735089a6/AFHS2201-0338Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0079/9382509/4c163f618820/AFHS2201-0338Fig3.jpg

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