CAJ | 학술논문

目的探究B细胞表面的调节蛋白基因(BANK1)单核苷酸多态性(SNPs)与类风湿关节炎(RA)的关系.方法 221例确诊RA组和310名健康对照组的外周全血提取DNA,采用非标记探针-高分辨率熔解曲线法分别检测rs10516487,rs17266594和rs3733197 SNPs位点,采用X2检验分析3个位点与RA的相关性.结果 RA患者rs17266594 TT基因型频率较健康对照显著升高(X2=6.241,P=0.044)；rs10516487、rs17266594和rs3733197的等位基因频率(分别是G、T和G等位基因)较健康对照呈升高的趋势,但差异无统计学意义；rs10516487和rs17266594呈强连锁不平衡(D'=0.993,r2=0.985)；3个SNPs的TGG单倍体型在RA患者频率较健康对照显著升高[P=0.037,OR=1.345,95％CI(1.018～1.776)].结论 BANK1 rs17266594与RA相关,3个SNPs TGG单倍体型可能是RA的易感因素.
목적 탐구B세포표면적조절단백기인(BANK1)단핵감산다태성(SNPs)여류풍습관절염(RA)적관계.방법 221례학진RA조화310명건강대조조적외주전혈제취DNA,채용비표기탐침-고분변솔용해곡선법분별검측rs10516487,rs17266594화rs3733197 SNPs위점,채용X2검험분석3개위점여RA적상관성.결과 RA환자rs17266594 TT기인형빈솔교건강대조현저승고(X2=6.241,P=0.044)；rs10516487、rs17266594화rs3733197적등위기인빈솔(분별시G、T화G등위기인)교건강대조정승고적추세,단차이무통계학의의；rs10516487화rs17266594정강련쇄불평형(D'=0.993,r2=0.985)；3개SNPs적TGG단배체형재RA환자빈솔교건강대조현저승고[P=0.037,OR=1.345,95％CI(1.018～1.776)].결론 BANK1 rs17266594여RA상관,3개SNPs TGG단배체형가능시RA적역감인소.
Objective To investigate the association of BANK1 single nucleotide polymorphisms (SNPs) with rheumatoid arthritis (RA) in Chinese Han. Methods Two hundreds and twenty-one RA patients and 310 healthy controls who were Chinses Han population from Huashan Hopital and Changzheng Hospital in Shanghai,China were included.DNAs were extracted from peripheral whole blood for study.Samples were genotyped for three variants rs10516487,rs17266594 and rs3733197 in BANK1 by unlabelled probe high resolution melting (HRM) assay.The genotype frequencies of the detected polymorphisms were analyzed in relation to RA and the production of autoantibodies in RA patients.Results The Tr genotype frequency was much higher in RA patients than in healthy controls (X2=6.241,P=0.044).The frequencies of rs10516487 G allele,rs17266594 T allele and rs3733197 G allele were increased among RA patients compared with healthy controls,although they didn't reach statistical significance.The rs10516487 and rs17266594 were found in strong linkage disequilibrium (D'=0.993,r2=0.985).And also the major TGG haplotype of 3-SNP was significantly associated with RA patients [P=0.037,OR =1.345,95％CI (1.018-1.776)].Conclusion BANK1 rs17266594 polymorphism is susceptible to RA,while rs10516487 and rs17266594 are linked in Chinese Han population.BANK1 SNPs TGG haplotype may contribute to RA susceptibility,too.