[维生素D代谢酶基因多态性与多发性硬化症风险的关联：初步研究]
[Association of vitamin D metabolism enzyme gene polymorphisms with multiple sclerosis risk: pilot study].
作者信息
Smagina I V, Lunev K V, Elchaninova S A, Elchaninova E Yu
机构信息
Altai State Medical University, Barnaul, Russia.
Regional Clinical Hospital, Barnaul, Russia.
出版信息
Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(7. Vyp. 2):70-74. doi: 10.17116/jnevro202112107270.
OBJECTIVE
To evaluate the association polymorphisms in genes coding for enzymes involved in vitamin D metabolism (rs703842) and (rs2248359) with the risk of multiple sclerosis (MS).
MATERIAL AND METHODS
Ninety Caucasian patients with remitting MS and 87 volunteers without MS, born and living in the Altai region of Russia, participated in the study. Genotyping was performed by the TaqMan probe method.
RESULTS
No association of MS with genotypes or alleles of (rs2248359) is found. (rs703842) is associated with the risk of MS in women. The TC genotype (rs703842) is associated with an increased risk of MS (Odd Ratio 3.43; 1.48-7.93, =0.004), while the TT genotype, on the contrary, has a protective effect on the susceptibility to MS (Odd Ratio 0.31; 0.14-0.72, =0.005).
CONCLUSION
The results indicate an increased risk of MS in female carriers of the TC genotype CYP27B1 (rs703842) and a low probability of the contribution of the CYP24A1 polymorphism (rs2248359) to the predisposition to MS in Caucasians of the Altai region.
目的
评估维生素D代谢相关酶编码基因（rs703842）和（rs2248359）的多态性与多发性硬化症（MS）风险之间的关联。
材料与方法
90例缓解期MS的白种人患者和87例无MS的志愿者参与了本研究，他们均在俄罗斯阿尔泰地区出生并生活。采用TaqMan探针法进行基因分型。
结果
未发现MS与（rs2248359）的基因型或等位基因存在关联。（rs703842）与女性MS风险相关。（rs703842）的TC基因型与MS风险增加相关（比值比3.43；1.48 - 7.93，P = 0.004），而TT基因型则对MS易感性具有保护作用（比值比0.31；0.14 - 0.72，P = 0.005）。
结论
结果表明，CYP27B1（rs703842）的TC基因型女性携带者患MS的风险增加，而在阿尔泰地区白种人中，CYP24A1多态性（rs2248359）对MS易感性的影响概率较低。
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