Tim-1基因4个SNP位点及其单倍型与宁夏地区回族人群类风湿性关节炎的关联性分析

J4 ›› 2011, Vol. 37 ›› Issue (6): 1124-1128.

Tim-1基因4个SNP位点及其单倍型与宁夏地区回族人群类风湿性关节炎的关联性分析

徐金瑞|杨易|周晶|孙晶莹

宁夏大学西部特色生物资源保护与利用教育部重点实验室|宁夏银川 750021

收稿日期:2011-06-07 出版日期:2011-11-28 发布日期:2011-11-28
通讯作者: 徐金瑞(Tel:0951-2061813,E-mail:xjr975@163.com) E-mail:xjr975@163.com
作者简介:徐金瑞（1975-）|男|宁夏回族自治区永宁县人|副教授|遗传学硕士|主要从事遗传学研究。
基金资助:
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）

Association of four SNPs and haplotypes of Tim-1 gene with rheumatoid arthritis in Ningxia Hui population

XU Jin-rui,YANG Yi,ZHOU Jing,SUN Jing-ying

Key Laboratory of |Protection and Utilization of Special Biological Resources in Western China,Ministry of Education,Ningxia University,Yinchuan 750021,China

Received:2011-06-07 Online:2011-11-28 Published:2011-11-28

摘要/Abstract

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－1637 A>G、－1454 G>A、－416 G>C和－232 A>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。

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

Abstract:

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.

Key words: T cell immunoglobulin domain and mucin domain protein;rheumatoid arthritis;Ningxia Hui nationality;single nucleotide polymorphisms;haplotype

中图分类号:

R593.22

徐金瑞|杨易|周晶|孙晶莹. Tim-1基因4个SNP位点及其单倍型与宁夏地区回族人群类风湿性关节炎的关联性分析[J]. J4, 2011, 37(6): 1124-1128.

XU Jin-rui,YANG Yi,ZHOU Jing,SUN Jing-ying. Association of four SNPs and haplotypes of Tim-1 gene with rheumatoid arthritis in Ningxia Hui population[J]. J4, 2011, 37(6): 1124-1128.