CAJ | 학술논문

目的探讨HTRA1基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)和类风湿性关节炎(rheumatoid arthritis,RA)及其患者血清类风湿因子(rheumatoid factor,RF)、C反应蛋白((C-reactive protein, CRP)之间的相关性.方法采用Snapshot法测定344例RA患者和288名正常健康人HTRA1基因5个SNPs(rs2014307、rs2248799、rs2300433、rs714816、rs2268356)位点基因型,终点散射比浊法测定RA患者血清RF和CRP水平.结果 RA组HTRA1基因SNPs(rs2014307、rs2248799、rs2300433、rs714816、rs2268356)基因型与正常对照组间差异均无统计学意义(P>0.05),单倍型分析也显示H豫A1基因RA组与正常对照组间差异无统计学意义(P>0.05),RA患者HTRA1基闪SNPs位点(rs2014307、rs2248799、rs714816、rs2268356)不同基因型之间血清RF水平比较差异无统计学意义(P>0.05),而rs2300433位点基因型(AA+AG)组的RF水平明显高于GG组((P<0.05).结论已分析的与HTRA1基因相关的5个SNPs与中国汉族人种RA遗传易感性不相关,HTRA1基因rs2300433位点不同基因型RA患者体内RF水平有差别,HTRA1基因表达的丝氨酸蛋白酶可能参与了RA患者RF的表达.
목적 탐토HTRA1기인단핵감산다태성(single nucleotide polymorphisms,SNPs)화류풍습성관절염(rheumatoid arthritis,RA)급기환자혈청류풍습인자(rheumatoid factor,RF)、C반응단백((C-reactive protein, CRP)지간적상관성.방법 채용Snapshot법측정344례RA환자화288명정상건강인HTRA1기인5개SNPs(rs2014307、rs2248799、rs2300433、rs714816、rs2268356)위점기인형,종점산사비탁법측정RA환자혈청RF화CRP수평.결과 RA조HTRA1기인SNPs(rs2014307、rs2248799、rs2300433、rs714816、rs2268356)기인형여정상대조조간차이균무통계학의의(P>0.05),단배형분석야현시H예A1기인RA조여정상대조조간차이무통계학의의(P>0.05),RA환자HTRA1기섬SNPs위점(rs2014307、rs2248799、rs714816、rs2268356)불동기인형지간혈청RF수평비교차이무통계학의의(P>0.05),이rs2300433위점기인형(AA+AG)조적RF수평명현고우GG조((P<0.05).결론 이분석적여HTRA1기인상관적5개SNPs여중국한족인충RA유전역감성불상관,HTRA1기인rs2300433위점불동기인형RA환자체내RF수평유차별,HTRA1기인표체적사안산단백매가능삼여료RA환자RF적표체.
Objective To study the association between the single nucleotide polymorphisms (SNPs) in the high-temperature requirement A-1 (HTRA1) gene and rheumatoid arthritis (RA) in Chinese Han population. Methods Five SNPs in the HTRA1 gene (rs2014307, rs2248799, rs2300433, rs714816 and rs2268356) were genotyped by AB1 Snapshot method in Han Chinese cohort composed of 344 patients with RA and 288 healthy controls. The serum rheumatoid factor (RF) and C-reactive protein (CRP) of the patients were determined by endpoint nephelometry method. Results Genotypes of all the five SNPs in the HTRAl gene were not significantly different between the RA patients and controls (P>0. 05). Haplotypes generated by these five SNPs did not show significantly difference between the two groups either (P> 0. 05). Serum RF levels in the RA patients had no significant difference among the genotypes for four SNPs (rs2014307, rs2248799, rs714816, and rs2268356) in the HTRA1 gene, while RF levels in the RA patients with genotypes AA+AG of the rs2300433 locus were significantly higher than that in genotype GG carriers (P<0. 05). Serum CRP levels in the RA patients had no significant difference among the genotypes for all the five SNPs. Conclusion Author's results suggested that although the five SNPs in the HTRA1 gene were not associated with RA in Chinese Han population, RF levels in the RA patients with genotypes AA and AG in the rs2300433 locus were significantly higher than the GG carriers. The HTRA1 role in RF regulation needs to be further investigated.