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哈萨克族系统性红斑狼疮患者FcγRIIIA-158F/V基因及IL-10基因启动子区域的多态性

[Polymorphism of Fc gamma RIIIA-158F/V gene and promoter region of IL-10 gene in systemic lupus erythematosus in Kazakhs].

作者信息

Guseva I A, Omarbekova Zh E, Miakotkin V A

出版信息

Ter Arkh. 2003;75(5):36-41.

Abstract

AIM

To assess the role of allele polymorphism of genes Fc gamma RIII and IL-10 in systemic lupus erythematosus (SLR) in a homogeneous (stratified by nationality) Kazakh population sample.

MATERIAL AND METHODS

Polymorphism of genes Fc gamma RIIIA and IL-10 was studied in 49 patients SLE patients and 81 healthy subjects (control group). Detection of two allele variants of gene Fc gamma RIIIA (alleles F and V) caused by point mutation in position 559 was performed by polymerase chain reaction (PCR) in the amplification refractory mutation system. Genetic changeability of IL-10 gene promotion site due to point mutation in position 627 (alleles 1 and 2) was investigated by polymorphism of restricted fragment lengths using restrictase RsaI.

RESULTS

Significant differences in the distribution rates of genes Fc gamma RIIIA and IL-10 were revealed in SLE patients versus controls. Alleles F and -627A (1), including homozygous ones, are genes predisposing to development of SLE while variants of the markers V and -627 (2) are protecting genes. If a SLE patient's genotype combines alleles F of gene Fc gamma RIII and alleles 1 of gene IL-10 (F/F + 1/1), this patient has an 8 times higher risk to develop SLE.

CONCLUSION

Polymorphism of genes Fc gamma RIIIA and IL-10 is associated with predisposition to development of SLE in Kazakh population. The analysis of combined genotypes of the studied genes suggests a synergic action of genes Fc gamma RIIIA and IL-10 on the risk to develop SLE.

摘要

目的

在一个同质化的(按国籍分层的)哈萨克族人群样本中,评估FcγRIII和IL-10基因的等位基因多态性在系统性红斑狼疮(SLE)中的作用。

材料与方法

对49例SLE患者和81名健康受试者(对照组)进行了FcγRIIIA和IL-10基因的多态性研究。通过扩增阻滞突变系统中的聚合酶链反应(PCR)检测由559位的点突变引起的FcγRIIIA基因的两个等位基因变体(等位基因F和V)。使用限制性内切酶RsaI,通过限制性片段长度多态性研究由于627位的点突变(等位基因1和2)导致的IL-10基因启动子区域的遗传变异性。

结果

SLE患者与对照组相比,FcγRIIIA和IL-10基因的分布率存在显著差异。等位基因F和-627A(1),包括纯合子,是易患SLE的基因,而标记V和-627(2)的变体是保护基因。如果SLE患者的基因型同时包含FcγRIII基因的等位基因F和IL-10基因的等位基因1(F/F + 1/1),那么该患者患SLE的风险要高8倍。

结论

FcγRIIIA和IL-10基因的多态性与哈萨克族人群患SLE的易感性相关。对所研究基因的联合基因型分析表明,FcγRIIIA和IL-10基因在患SLE风险方面存在协同作用。

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