新疆维吾尔族不同性别人群中MK2基因变异与低密度脂蛋白胆固醇水平及肿瘤坏死因子-α的相关性

摘要

目的 探讨不同性别间MK2基因功能区多态位点与新疆和田地区维吾尔族人低密度脂蛋白胆固醇(LDL-C)及肿瘤坏死因子-α (TNF-α)的相关性.方法 采用整群随机抽样方法抽取945个维吾尔族人作为研究对象,检测其血脂及TNF-α水平,并在48例维吾尔族血脂异常人群中测序筛查MK2基因功能区的变异位点,选取代表性变异位点,应用TaqMan-PCR进行基因型鉴定及病例-对照关联研究.结果 男性MK2基因44890c/t的TT、CT、CC基因型总胆固醇水平分别为(4.35±1.20)、(4.69±1.34)、(4.83±1.44) mmol/L,差异有统计学意义(P=0.033)；TNF-α水平分别为(106.63 ±62.39)、(128.44 ±86.15)、(153.06±82.99) ng/dl,差异有统计学意义(P=0.001)；LDL-C水平分别为(2.64±1.16)、(2.81 ±1.28)、(3.04 ±1.32) mmol/L,差异无统计学意义(P＞0.05).女性44890c/t的TT、CT、CC基因型的LDL-C水平分别为(2.42±1.11)、(2.36±0.99)、(2.43±1.05) mmol/L,差异均无统计学意义(P＞0.05).不同性别MK2基因的44890c/t、rs45514798基因型及等位基因频率分布在高LDL-C组和对照组间差异无统计学意义(P＞0.05).线性回归分析提示,在男性中,体重指数(BMI)及TNF-α可能对LDL-C水平有影响(P＜0.05),而44890c/t可能对TNF-α水平有影响(P＜0.05)；在女性中,年龄、BMI及腰臀比可能对LDL-C有影响(P＜0.05).结论 MK2基因44890c/t、rs 45514798位点可能与新疆维吾尔族男性和女性LDL-C均不相关.%Objective To investigate the association of MK2 gene with low density lipoprotein cholesterol (LDL-C) and tumor necrosis factor-alpha (TNF-a) between different gender in Xinjiang Uygur population. Methods A total of 350 Uygur males and 595 females were recruited randomly from Hetian area. Two single nucleotide polymorphisms (44890c/t, rs 45514798) in MK2 gene were selected and genotyped by Taqman-PCR in these subjects. All subjects underwent questionnaire-based survey, physical examination, measurement of lipid profiles and plasma TNF-a determination. Results Among the male subjects, the concentration of total cholesterol (TC) [TT vs. CT vs. CC: (4. 35 ± 1. 20) mmol/L vs. (4. 69 ± 1. 34) mmol/L vs. (4. 83 ±1.44) mmol/L, P= 0.033] and TNF-a [ TT vs. CT vs. CC: (106. 63 ±62. 39) ng/dL vs. (128. 44 ± 86. 15) ng/dL vs. ( 153. 06 ± 82. 99 ) ng/dL, P = 0. 001 ] were significantly different in 3 genotypes of 44890c/1. However, the LDL-C levels in TT, CT, and CC genotypes of 44890c/1 were not different neither in males nor in females [ males-. (2. 64 ± 1. 16) mmol/L vs. (2. 81 ± 1. 28) mmol/L vs. (3. 04 ± 1. 32) mmol/L, P>0. 05; females: (2.42±1. 11) mmol/L vs. (2.36±0.99) mmol/L vs. (2.43 ±1.05) mmol/L, P> 0. 05]. None of the allele and genotype frequencies of 44890c/tand rs 45514798 were different between high LDL-C group and control group. Linear regression analysis indicated that body mass index ( BMI) ( beta = 0. 089) and TNF-a ( beta = 0. 092) were significantly associated with LDL-C levels in males ( P < 0. 05 ) , while the age, BMI, and waist/hip ratio with LDL-C levels in females (P < 0. 05). Conclusion The nucleo-tide polymorphisms (44890c/t and rs 45514798) in MK2 gene may not be associated with LDL-C in both males and females in the Uygur population in Hetian, Xinjiang.