摘要
目的:探讨Tim-1基因4个SNP位点及单倍型与宁夏地区回族人群类风湿性关节炎(RA)的关联性,旨在为RA的早期预防提供理论依据。方法:采用序列特异性引物聚合酶链式反应(SSP-PCR)及限制性片段长度多态性(PCR-RFLP)2种方法对108例RA患者及104例健康个体Tim-1基因-1637A>G、-1454G>A、-416G>C和-232A>G共4个SNP位点进行检测,对各基因位点基因型频数、等位基因频数及单倍型分布情况进行比较和分析。结果:健康对照组与RA患者组-1637、-232位点基因型频数分布差异有统计学意义,在RA患者中-1637位点等位基因A的频数高于等位基因G(P<0.01)。4个位点共检出15种单倍型,单倍型AGCA(OR值9.611,95% CI 3.13～29.52)、AGCG(OR值4.361,95% CI 2.12～8.96)在宁夏回族RA患者组中的频数高于健康人群(P<0.01);而单倍型GGCA(OR值0.374,95% CI 0.22～0.64)、GGCG(OR值0.199,95% CI 0.08～0.49)及GAGA(OR值0.023,95%CI 0.002～0.26)在宁夏回族人群RA患者组中的频数低于健康对照组(P<0.01)。结论:-1637位点A>G的突变与宁夏回族人群RA发生有关,等位基因A的存在可增加RA发病风险,而等位基因G对RA的发生具有保护作用;AGCA、AGCG这2种单倍型可增加宁夏回族人群RA发生的风险,而单倍型GGCA、GGCG、GAGA对宁夏回族人群RA的发生具有保护作用。
Objective To study the association of four SNPs and haplotypes of Tim-1 gene with rheumatoid arthritis(RA) in Ningxia Hui population and provide theoretical basis early prevention of RA.Methods Polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP),specific sequence primer-polymerase chain reaction(SSP-PCR) genotyping method were carried out to examine the-1637A>G,-1454 G>A,-416 G>C and-232 A>G polymorphic sites of Tim-1 gene,including 104 healthy individuals and 108 RA patients in Ningxia Hui population.Results The genotypic frequencies at-1637,-232 sites and allelic frequency at-1637 site of Tim-1 gene had extremly significant difference(P<0.01) between RA patients and non-RA controls.The frequency of allele A in RA patients was significantly higher than that in non-RA controls(P<0.01) at-1637 site.The frequencies of the two haplotypes AGCA(OR 9.611,95%CI 3.13-29.52),and AGCG(OR 4.361,95%CI 2.12-8.96) in RA patients were higher than those in non-RA controls(P<0.01).The frequencies of the three haplotypes GGCA(OR 0.374,95%CI 0.22-0.64),GGCG(OR 0.199,95%CI 0.08-0.49) and GAGA(OR 0.023,95%CI 0.002-0.260) in RA patients were lower than those in non-RA controls(P<0.01).Conclusion-1637,-1454,-416,and-232 sites of Tim-1 gene have variations.-1637A>G polymorphisms of Tim-1 gene may be strongly associated with RA susceptibility in Ningxia Hui population.The haplotypes AGCA and AGCG are associated with RA.The haplotypes GGCA,GGCG,and GAGA have protective effects on RA.
出处
《吉林大学学报（医学版）》
CAS
CSCD
北大核心
2011年第6期1124-1128,共5页
Journal of Jilin University：Medicine Edition
基金
宁夏回族自治区科技厅自然科学基金资助课题(NZ0933)
宁夏高校自然科学基金资助课题(2010)
关键词
Tim-1基因
类风湿性关节炎
宁夏回族
单核苷酸多态性
单倍型
T cell immunoglobulin domain and mucin domain protein
rheumatoid arthritis
Ningxia Hui nationality
single nucleotide polymorphisms
haplotype
