PTGER4基因多态性与山东汉族人群强直性脊柱炎易感性的关系

doi:10.6040/j.issn.1671-7554.0.2016.022

摘要/Abstract

摘要： 目的探讨PTGER4基因单核苷酸多态性(SNP)与山东汉族人群强直性脊柱炎(AS)的关系。方法利用TaqMan-PCR基因分型法对600例AS患者(AS组)和620例正常健康人(正常对照组)PTGER4基因SNPs位点rs7726237、rs4133101和rs16870224进行基因分型,计算各位点基因型和等位基因频率,比较两组各位点之间基因型和等位基因频率分布差异。结果 AS组与正常对照组PTGER4基因rs7726237位点A等位基因分布频率(78.5%, 74.7%)和G等位基因分布频率(21.5%,25.3%)的分布不同,差异有统计学意义(P=0.026, OR=0.81, 95%CI: 0.67~0.97);AS组GG、AG、AA基因型频率分布(5.3%、32.3%、62.3%)与对照组(5.2%、40.3%、54.5%)相比差异有统计学意义(P=0.014, OR=0.90, 95%CI: 0.54~1.51; P=0.014, OR=0.70, 95%CI: 0.55~0.89)。PTGER4基因rs4133101位点和rs16870224位点SNP在AS组和正常对照组差异均无统计学意义(P>0.05)。单倍体型分析与AS的易感性无关(P>0.05)。结论 PTGER4基因与山东汉族人群AS的易感性相关。

关键词: PTGER4, 脊柱炎, 多态性, 病例对照研究, 强直性

Abstract: Objective To investigate the relationship between the single nucleotide polymorphisms(SNPs)in PTGER4 and susceptibility of ankylosing spondylitis(AS)in the Han population in Shandong Province. Methods A total of 600 AS patients and 620 healthy controls were involved in this study. Three SNPs(rs7726237, rs4133101 and rs16870224)of PTGER4 gene were detected with the TaqMan-PCR method. The genotype and allele frequencies were calculated, and the distribution difference between the genotype and allele frequencies of SNPs was analyzed. Results Distribution frequencies of A alleles(78.5%, 74.7%)and G alleles(21.5%, 25.3%)of PTGER4 rs7726237 in AS and controls were significantly different with each other(P=0.026, OR=0.81, 95%CI: 0.67-0.97), while the distribution frequency of genotypes(GG, AG, AA)in group AS and controls were(5.3%, 32.3%, 62.3%)and(5.2%, 40.3%, 54.5%)(P=0.014, OR=0.90, 95%CI: 0.54-1.51 and P=0.014, OR=0.70, 95%CI: 0.55-0.89, respectively). Frequency of alleles and the genotypes of rs4133101 and rs16870224 SNPs between AS and controls group were similar(P>0.05). No association was found between haplotypes of SNPs in PTGER4 and susceptibility of AS(P>0.05). Conclusion This study indicates that PTGER4 gene polymorphism is related to AS susceptibility.

Key words: Case-control study, Polymorphism, PTGER4, Ankylosing spondylitis

中图分类号:

R593.24

王丽亚,麻贞贞,杨清锐. PTGER4基因多态性与山东汉族人群强直性脊柱炎易感性的关系[J]. 山东大学学报（医学版）, 2016, 54(6): 31-34.

WANG Liya, MA Zhenzhen, YANG Qingrui. Association between PTGER4 gene polymorphism and susceptibility of ankylosing spondylitis in Han population in Shandong Province[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2016, 54(6): 31-34.

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