细胞间粘附因子1基因多态性与Graves病的相关性研究

The associative study of Intercellular adhesion molecule 1's gene polymorphism in Graves disease

目的探讨细胞间粘附因子1(Intercellular adhesion molecule,ICAM-1)基因第4外显子G241R(721G→A)与第6外显子K469E(1405A→G)多态性与中国北方汉族人Graves病(GD)的相关性。方法运用聚合酶链反应-序列特异性引物(PCR-SSP)技术,检测了202例中国北方汉族人的血清sI-CAM-1水平和ICAM-1基因第4外显子G241R(721G→A)与第6外显子K469E(1405A→G)多态位点的等位基因和基因型,其中初诊Graves病患者139例,按发病年龄分为早发GD组(发病年龄<40岁,78例>和晚发GD组(发病年龄≥40岁,61例)两个亚组;健康对照组63例。应用统计软件SPSS11.0分析,各组间的等位基因频率和基因型比较用卡方检验。结果①ICAM-1基因第4外显子721G→A多态位点存在G、A两种等位基因和GG、GA、AA三种基因型;②ICAM-1基因第6外显子1405A→G多态位点存在A、G两种等位基因和AA、AG、GG三种基因型;③ICAM-1基因第4外显子721G→A多态位点的A等位基因和GA基因型频率在早发GD组高于晚发GD组和健康成人组。结论①中国北方汉族人ICAM-1基因第4外显子存在721G→A多态,A等位基因可能是早发GD的易感等位基因;②中国北方汉族人ICAM-1基因第6外显子存在1405A→G多态,但这种基因多态变化与GD患者发病年龄无相关性。

Objective To investigate the association between Intercellular adhesion molecule1 （ICAM- 1 ）with the polymorphism of it＇s the forth exon G241 R（ 721 G→A）and the sixth exon K469E （1405A→G）and the Graves disease of Chinese Hans in northern China. Methods The serum ICAM-1 concentration and the allele of its the forth exon G241 R（ 721 G→A）and the sixth exon K469E （1405A→G） were determined by enzyme linked immunosorbent assay（ELISA） and the PCR sequence-specific primers method（PCR-SSP） in 202 Chinese Hans in northern China, including 139 patients of Graves Disease（GD）. According to the age when GD occured ,the GD cases were divided into two groups ,the early-onset group including 78 cases（ 〈40 years old）and the late-onset group including 61 cases（ ≥40 years old）. The health control group included 63 persons. The statistic analysis was performed by SPSS for 11.0. Comparison of the sequences of allele in every group was performed by Analysis of x^2 test. A two-tailed P value 〈 0. 05 was taken as statistically significant. Results ①The polymorphic site of the forth exon 721 had G and A alleles. ②The polymorphic site of the sixth exon 1405 had A and G alleles. ③The sequence of A allele in the forth exon 721G→A in early GD group was higher the late GD group and the healthy group. ④There were no significant differences in the two alleles in the sixth exon 1405A→ G among three groups. Conclusion ①The forth exon of ICAM 1 gene in Chinese Hans in northern China existed of polymorphism of 721G→A;A allele may relate to early onset of GD;②The sixth exon of ICAM 1 gene in Chinese Hans in northern China existed of polymorphism of 1405A→G;but it has no dependability to the age of onset of GD.