Mustafina O E, Bakhtiiarova K Z, Mikhaĭlova A M, Tuktarova I A, Khusainova A N, Nasibullin T R, Magzhanov R V
Genetika. 2008 Mar;44(3):407-13.
Multiple sclerosis (MS) is a multifactorial disease of the central nervous system. The apolipoprotein E (APOE) and interleukin 1 beta (IL1B) genes are considered to be candidate genes of MS. The aim of the study was to examine the hypothesis of the importance of APOE and IL1B gene polymorphisms in MS development in ethnic Tatars. DNA samples isolated by phenol-chloroform extraction from peripheral blood of 383 ethnic Tatars (120 MS patients and 263 healthy donors) were studied. 112C/R and 158R/C APOE gene polymorphisms as well as -511T/C IL1B gene polymorphism were analyzed by polymerase chain reaction (PCR) followed by PCR product digestion by endonuclease. Odds ratio (OR) values were used for evaluation of the relative risk of alleles and(or) genotype combinations. It has been shown that APOE2/3 genotype is associated with low risk of the disease development (OR = 0.20) in women. A combined effect of APOE and IL1B allelic variants has been discovered indicating the increased risk of the disease development in the carriers of APOE4 and IL1BT/*T alleles (OR = 4.76).
多发性硬化症（MS）是一种中枢神经系统的多因素疾病。载脂蛋白E（APOE）基因和白细胞介素1β（IL1B）基因被认为是MS的候选基因。本研究的目的是检验APOE和IL1B基因多态性在鞑靼族MS发病中重要性的假设。对通过酚-氯仿提取法从383名鞑靼族（120例MS患者和263名健康供体）外周血中分离的DNA样本进行了研究。采用聚合酶链反应（PCR），随后用核酸内切酶消化PCR产物，分析了APOE基因的112C/R和158R/C多态性以及IL1B基因的-511T/C多态性。比值比（OR）值用于评估等位基因和（或）基因型组合的相对风险。结果表明，APOE2/3基因型与女性疾病发生的低风险相关（OR = 0.20）。发现APOE和IL1B等位基因变体具有联合效应，表明携带APOE4和IL1BT/*T等位基因的个体疾病发生风险增加（OR = 4.76）。
