溃疡性结肠炎患者FCGR2A基因的单核苷酸多态性及单倍型分析  

Analysis of single nucleotide polymorphisms and haplotypes of FCGR2A gene among patients with ulcerative colitis

作　　者：章达冠 闵小彦[2] 王建嶂[1] 蒋益[1] 

机构地区：[1]浙江省温州医科大学附属第二医院消化内科,325000 [2]浙江省温州医科大学附属第二医院重症医学科,325000

出　　处：《中华医学遗传学杂志》2016年第6期811-815,共5页Chinese Journal of Medical Genetics

基　　金：浙江省自然科学基金（LY14H030012）;浙江省卫生厅项目（2012KYA132）

摘　　要：目的探讨FCGR2A基因单核苷酸多态性（single nucleotide polymorphism, SNP）及单倍型与溃疡性结肠炎（ulcerative colitis, UC）易感性的相关性。方法应用微测序技术检测198例UC患者和356名对照者FCGR2A基因rs1801274、rs10800309、rs66968543个SNP位点的等位基因和基因型，并进行连锁不平衡和单倍型分析。结果UC组rs1801274位点CC基因型频率显著低于对照组（5．56％ vs 11．80％）（P=0．017，OR=0．440，95％CI：0．221～0．875）；而rs10800309和rs6696854位点的等位基因和基因型频率在两组之间的差异均无统计学意义（P〉0．05）。此外，FCGR2A基因多态性与UC疾病部位和疾病严重程度亦无关联（P〉0．05）。连锁不平衡分析结果显示3个SNP位点彼此连锁（rs1801274-rs10800309：D′=0．863，r2=0．634；rs1801274-rs6696854：D′：0．753，r2=0．546；rs10800309-rs6696854：D′=0．990，r2=0．802），所构成的T-A-T单倍型在UC组的频率高于对照组，差异有统计学意义（67．40％ vs．60．93％，P=0．032，OR=1．326，95％CI：1．024～1．717）。结论FCGR2A基因rs1801274位点CC基因型可能是UC的保护因素，携带T-A-T（rs1801274-rs10800309-rs6696854）单倍型可能增加个体发生UC的风险。Objective To assess the association of several single nucleotide polymorphisms and haplotypes of the FCGR2A gene with ulcerative colitis （UC） among Chinese patients. Methods For 198 UC patients and 356 healthy controls, the alleles and genotypes of the FCGR2A gene （rs1801274, rs10800309 and rs6696854） were detected with a multiplex SNaPshot technique. All subjects were also subjected to linkage disequilibrium and haplotype analyses. Results The mutant homozygote （CC） of theFCGR2A gene rs1801274 polymorphism was less frequent among UC patients compared with the controls （5. 56% vs. 11.80%, P=0. 017, OR：0. 440, 95% CI： 0. 221-0. 875）. However, the allelic and genotypic distributions of other two SNPs did not differ significantly between the two groups （all P〉0.05）. Furthermore, no association of the three SNPs （rs1801274, rs10800309 and rs6696854） of the FCGR2A gene with the severity and location of the UC was found （all P^0.05）. The three SNPs were shown to be in a strong linkage[rs1801274-rs10800309 （D′=0. 863, r2 =0. 634） ;rslS01274-rs6696854 （D′=0. 753, r2 = 0. 546） rs10800309-rs6696854（D′=0. 990, r2=0. 802）]. Moreover, the frequency of T-A-T haplotype was higher among the UC patients compared with the controls （67.40% vs. 60.93%, P=0. 032, OR：l. 326, 95% CI： 1. 024-1. 717）. Conclusion Our findings suggested that the mutant homozygote （CC） of the FCGR2A gene （rs1801274） may have a protective role among Chinese patients with UC. Moreover, the T-A-T haplotype formed by rs1801274, rs10800309 and rs6696854 may confer a higher risk for UC.

关 键 词：FCGR2A基因 溃疡性结肠炎 单核苷酸多态性 

分 类 号：R57[医药卫生—消化系统]