Aims: To investigate the possible roles of the single nucleotide polymorphisms (SNPs) MATN3 (rs77245812) and DOT1L (rs12982744) with susceptibility to knee osteoarthritis (KOA) among mestizos from the northeast region of Mexico. In addition, we analyzed the relationship of their urinary levels of carboxy terminal telopeptide of collagen type II (CTX-II) and the radiological grade of disease. Materials and Methods: A total of 223 individuals from a Northeast Mexico Mestizo population were included in this study: 110 patients with primary KOA and 113 healthy controls. Genotyping of the MATN3 (rs77245812) and DOT1L (rs12982744) SNPs was performed by real-time polymerase chain reaction. Results: No association was found between the polymorphisms MATN3 (rs77245812), DOT1L (rs12982744), and the risk of developing KOA (odds ratio [OR] = 1.33, 95% confidence interval [CI] = 0.42-6.48, p = 0.621) (OR = 2.03, 95% CI = 0.35-11.5, p = 0.422). However, urinary CTX-II levels were considerably higher by radiographic grade. Conclusions: An increase in CTX-II per radiographic grade was observed in the case group, but no association was found between MATN3 and DOT1L genes and the risk of KOA in Mexican mestizos.

中文翻译：

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墨西哥东北混血儿人群膝骨关节炎患者MATN3和DOT1L基因多态性和CTX-II尿水平的分析

目的：研究单核苷酸多态性（SNP）MATN3（rs77245812）和DOT1L（rs12982744）在墨西哥东北部地区的混血儿中易患膝骨关节炎（KOA）的可能作用。此外，我们分析了它们的尿液中II型胶原（CTX-II）羧基末端端肽的水平与疾病的放射学等级之间的关系。材料和方法：这项研究包括来自墨西哥东北部Mestizo人群的223个人：110名原发性KOA患者和113位健康对照。通过实时聚合酶链反应对MATN3（rs77245812）和DOT1L（rs12982744）SNP进行基因分型。结果：未发现MATN3（rs77245812），DOT1L（rs12982744）多态性与发生KOA的风险（赔率[OR] = 1.33，95％置信区间[CI] = 0.42-6.48，p = 0.621）（OR = 2.03，95％CI = 0.35-11.5，p = 0.422）。然而，按射线照相等级，尿中的CTX-II水平要高得多。结论：在病例组中，每个影像学等级的CTX-II升高，但未发现MATN3和DOT1L基因与墨西哥混血儿的KOA风险相关。