本文選題：MBL2 + NLRP1��； 參考：《山西醫(yī)科大學(xué)》2015年碩士論文

【摘要】：目的:分析山西人群中患有自身免疫性甲狀腺疾病(autoimmunethyroid disease,AITD)者甘露糖結(jié)合凝集素2(mannose binding lectin-2,MBL-2)、核苷酸結(jié)合寡聚化結(jié)構(gòu)域樣受體蛋白1(nucleotide-binding,leucine-rich repeat pyrin domain containing protein 1,NLRP1)基因多態(tài)性,探討其與AITD的易感性關(guān)系,為AITD的發(fā)病機制提供一種新的思路,進而為AITD的治療提供新的手段。方法:采用PCR-RFLP方法,分析132例山西AITD患者(GD組62例、HT組70例)與44例正常對照組的MBL2-rs1800450AG、NLRP1-rs12150220AT位點的等位基因及基因型分布情況并探討其與HT、GD易感性的關(guān)系。結(jié)果:①MBL2-rs1800450AG位點基因型在山西人群中以AA型為主,等位基因以A為主。正常對照組中AA基因型頻率明顯高于GD組(70.5%vs 35.5%)稍高于HT組(70.5%vs 54.3%),在GD組中MBL2-rs1800450 AG位點GG、AA、AG三種基因型頻率與正常對照組相比,差異有統(tǒng)計學(xué)意義(P=0.002),而HT組和對照組相比無統(tǒng)計學(xué)差異(P=0.160)。②NLRP1-rs12150220 AT位點在GD組、HT組及對照組均以TA基因型為主,頻率分別為50.0%、55.7%、45.5%;等位基因A在HT組和對照組中分布為主,其頻率分別為55.0%、61.4%,而GD組以等位基因T分布為主,頻率為50.8%;GD組、HT組分別與對照組相比,AA、TA、TT三種基因型頻率分布均無統(tǒng)計學(xué)差異(P=0.218;P=0.256)。③MBL2-rs1800450AG位點多態(tài)性與GD、HT的風(fēng)險性分析,以AA型為非暴露因素,以AG、GG基因型為危險因素。發(fā)現(xiàn)在GD組中,MBL2-rs1800450 AG AG型OR=4.355(95%CI=1.821-10.419),P0.001有統(tǒng)計學(xué)意義。NLRP1-rs12150220 AT位點多態(tài)性與GD、HT的風(fēng)險性分析,以AA基因型為非暴露因素,以TA、TT基因型為危險因素,P均大于0.05,差異無統(tǒng)計學(xué)意義。結(jié)論:①MBL2-rs1800450 AG位點基因多態(tài)性在山西患有AITD人群中分布與對照組相比有統(tǒng)計學(xué)差異,個體攜帶AG基因型的人群罹患GD的風(fēng)險是攜帶AA基因型人群的4.355倍。②NLRP1-rs12150220AT位點基因多態(tài)性的分布在山西人群中無統(tǒng)計學(xué)差異,且不增加罹患GD、HT的風(fēng)險。
[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.
【學(xué)位授予單位】：山西醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2015
【分類號】：R581

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1 王柯;MBL2、NLRP1基因多態(tài)性與自身免疫性甲狀腺疾病的相關(guān)性研究[D];山西醫(yī)科大學(xué);2015年

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本文編號：1758696