MBL2、NLRP1基因多态性与自身免疫性甲状腺疾病的相关性研究

发布时间：2018-04-16 11:25

本文选题：MBL2 + NLRP1　；参考：《山西医科大学》2015年硕士论文

【摘要】：目的:分析山西人群中患有自身免疫性甲状腺疾病(autoimmunethyroid disease,AITD)者甘露糖结合凝集素2(mannose binding lectin-2,MBL-2)、核苷酸结合寡聚化结构域样受体蛋白1(nucleotide-binding,leucine-rich repeat pyrin domain containing protein 1,NLRP1)基因多态性,探讨其与AITD的易感性关系,为AITD的发病机制提供一种新的思路,进而为AITD的治疗提供新的手段。方法:采用PCR-RFLP方法,分析132例山西AITD患者(GD组62例、HT组70例)与44例正常对照组的MBL2-rs1800450AG、NLRP1-rs12150220AT位点的等位基因及基因型分布情况并探讨其与HT、GD易感性的关系。结果:①MBL2-rs1800450AG位点基因型在山西人群中以AA型为主,等位基因以A为主。正常对照组中AA基因型频率明显高于GD组(70.5%vs 35.5%)稍高于HT组(70.5%vs 54.3%),在GD组中MBL2-rs1800450 AG位点GG、AA、AG三种基因型频率与正常对照组相比,差异有统计学意义(P=0.002),而HT组和对照组相比无统计学差异(P=0.160)。②NLRP1-rs12150220 AT位点在GD组、HT组及对照组均以TA基因型为主,频率分别为50.0%、55.7%、45.5%;等位基因A在HT组和对照组中分布为主,其频率分别为55.0%、61.4%,而GD组以等位基因T分布为主,频率为50.8%;GD组、HT组分别与对照组相比,AA、TA、TT三种基因型频率分布均无统计学差异(P=0.218;P=0.256)。③MBL2-rs1800450AG位点多态性与GD、HT的风险性分析,以AA型为非暴露因素,以AG、GG基因型为危险因素。发现在GD组中,MBL2-rs1800450 AG AG型OR=4.355(95%CI=1.821-10.419),P0.001有统计学意义。NLRP1-rs12150220 AT位点多态性与GD、HT的风险性分析,以AA基因型为非暴露因素,以TA、TT基因型为危险因素,P均大于0.05,差异无统计学意义。结论:①MBL2-rs1800450 AG位点基因多态性在山西患有AITD人群中分布与对照组相比有统计学差异,个体携带AG基因型的人群罹患GD的风险是携带AA基因型人群的4.355倍。②NLRP1-rs12150220AT位点基因多态性的分布在山西人群中无统计学差异,且不增加罹患GD、HT的风险。
[Abstract]:To provide a new idea for the pathogenesis of AITD, and then to provide a new means for the treatment of AITD.Methods: the alleles and genotypes of MBL2-rs1800450 AGLRP1-rs12150220AT locus were analyzed in 62 cases of GD group (70 cases of HT group) and 44 cases of normal controls by PCR-RFLP method.Results the genotype of MBL2-rs1800450 AG was mainly AA genotype and A allele in Shanxi population.The frequency of AA genotype in the normal control group was significantly higher than that in the GD group (70.5 vs 35.5g)) slightly higher than that in the HT group (70.5% vs 54.3%). The frequency of the three genotypes of MBL2-rs1800450 AG in GD group was higher than that in the normal control group.There was no significant difference between HT group and control group, but there was no significant difference between HT group and control group, and there was no significant difference between HT group and control group. The TA genotype was dominant in GD group and control group, and the distribution of allele A was mainly in HT group and control group, and the distribution of allele A was mainly in HT group and control group.The allele T distribution was dominant in GD group, and there was no significant difference among the three genotypes in the HT group (50.8GD group) and the control group (50.8GD group). There was no significant difference among the three genotypic frequencies of Pu 0.218G, Pu 0.256G, 3MBL2-rs1800450 AG polymorphism and GDHT risk analysis.AA genotype was used as non-exposure factor and AGG genotype as risk factor.It was found that in GD group, MBL2-rs1800450 AG type ORN 4.35595 had statistical significance. NLRP1-rs12150220 AT polymorphism and risk of GDHT were analyzed. AA genotype was used as non-exposure factor and TATT genotype as risk factor (P > 0.05), the difference was not statistically significant.Conclusion the gene polymorphism of MBL2-rs1800450 AG in the population with AITD in Shanxi Province was significantly different from that in the control group.The risk of GD in individuals with AG genotype was 4.355 times higher than that in those with AA genotype. There was no significant difference in the distribution of polymorphism at the locus of GDHT in Shanxi population, and the risk of GDHT was not increased.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R581

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