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目的检测我国南方汉族老年人类风湿关节炎(RA)合并高血压病(HT)者的亚甲基四氢叶酸还原酶(MTHFR)677C/T和1298A/C2个单核苷酸多态性的表达,并分析两个单核苷酸多态性(SNP)位点与HT、RA及RA合并HT的关系。方法研究对象共169人,其中对照91人,RA患者78人,应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术检测基因型和等位基因的分布频率,群体数理遗传学方法分析MTHFR SNP的遗传平衡吻合度和相互间连锁不平衡关系。结果经Hardy-Weinberg检验,所研究的2个SNP位点各基因频率达到遗传平衡。677CC、CT、TT基因型在高血压病组中分别占59.2%、33.8%和6.9%,在非高血压病组中分别为79.5%、17.9%和2.6%,两组总的频率分布无显著性差异(χ2=5.402,P>0.05),但将少见T等位基因携带者CT与TT合为一组后两组比较有统计学差异,(χ2=5.337,P<0.05)说明携带677T等位基因与高血压病可能存在相关关系。OR为1.579(95%CI:1.066~2.339,P=0.029),进一步比较RA合并高血压病与对照者高血压病组,两组总的频率分布及将CT与TT合为一组后比较均无显著性差异(χ2=3.606,P>0.05)说明677C/T与RA及RA合并高血压病均无关联。1298A/C位点在高血压病组中分别占54.6%、40.8%和4.6%,在非高血压病组中分别为51.3%、43.6%和5.1%,两组总的频率分布无显著性差异(χ2=0.136,P>0.05),将AC与CC合为一组后比较亦无统计学差异。1298A/C位点在RA合并高血压病与对照者高血压病组,两组总的频率分布及将AC与CC合为一组后均无统计学差异,说明1298A/C位点与高血压病及RA合并高血压病均无关系。结论MTHFR677CT、TT基因型与高血压病存在相关关系,可能是高血压病的危险易感因子,1298A/C与HT无关联。合并RA高血压病组与不合并RA高血压病组研究结果基本一致。677C/T和1298A/C与RA无明显关联。老年RA患者中高血压病患病率高。
Objective To detect the expression of methylenetetrahydrofolate reductase (MTHFR) 677C / T and 1298A / C2 single nucleotide polymorphisms (SNPs) in rheumatoid arthritis (RA) and hypertensive patients (HT) , And analyzed the relationship between two single nucleotide polymorphisms (SNPs) and HT, RA and RA combined with HT. METHODS: A total of 169 subjects, including 91 controls and 78 RA patients, were genotyped and allele-amplified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Genetic analysis of MTHFR genetic SNP SNP and the relationship between the linkage disequilibrium. Results Hardy-Weinberg test, the two SNP loci genetic frequency reached a genetic equilibrium. The genotypes of 677CC, CT and TT accounted for 59.2%, 33.8% and 6.9% in hypertension group and 79.5%, 17.9% and 2.6% in non-hypertension group respectively. There was no significant difference in the total frequency distribution between the two groups (Χ2 = 5.402, P> 0.05). However, there was a significant difference between the two groups when the carriers of rare T allele were grouped as CT and TT (χ2 = 5.337, P <0.05) Genes and hypertension may be related. OR was 1.579 (95% CI: 1.066 ~ 2.339, P = 0.029), and further comparison of the total frequency distribution between the two groups and the control group were compared No significant difference (χ2 = 3.606, P> 0.05) shows that 677C / T and RA and RA with hypertension were not associated. The 1298A / C locus accounted for 54.6%, 40.8% and 4.6% of hypertensive patients respectively, and 51.3%, 43.6% and 5.1% respectively in non-hypertensive patients, with no significant difference between the two groups (χ2 = 0.136, P> 0.05). There was no significant difference between AC and CC groups. 1298A / C locus in hypertensive patients with hypertension and control RA group, the total frequency distribution of the two groups and the combination of AC and CC were no significant difference, indicating that 1298A / C site and hypertension Disease and RA with hypertension are not related. Conclusion There is a correlation between MTHFR677CT and TT genotypes and hypertension, which may be a risk factor for hypertension. There is no correlation between 1298A / C and HT. The results of the study with RA patients with RA and those without RA were basically the same. 677C / T and 1298A / C were not significantly associated with RA. The prevalence of hypertension in elderly RA patients is high.