The interleukin-6 promoter polymorphism in Gaucher disease:: a new modifier gene?
The interleukin-6 promoter polymorphism in Gaucher disease:: a new modifier gene?
复制标题
DOI：
10.1093/qjmed/hcg097
复制
发表时间：
2003-08-01
影响因子：
13.3
通讯作者：
Mates, M
中科院分区：
文献类型：
--
作者：
Altarescu, G;Phillips, M;Mates, M
目的：探讨白介素6(IL-6)基因多态性在高谢病患者中的分布及其与骨密度等疾病严重程度的关系。设计：病例对照研究。方法：174G->基因分型；结果：高雪病患者中等位基因变异的发生率(58%G/G、36%G/C和6%C/C)与德系犹太人对照相似，但与已报道的高加索人群有显著差异(p<；0.05)。未发现IL-6基因与骨密度或高谢病严重程度的标志物有统计学意义的相关性。结论：IL-6基因多态性在德系犹太人中的分布与在其他高加索人中的分布不同。在高谢病中，C/C基因型可能与较温和的高谢病表型相关，并可能作为一种缓解遗传修饰。
Background: Individuals with Gaucher disease vary significantly with regard to degree of bone disease, but there are no predictive markers for severity of skeletal involvement.Aim: To determine the frequency of polymorphisms of interleukin-6 (IL-6) among patients with Gaucher disease, and the relationship to bone mineral density (BMD) and other markers of disease severity.Design: Case-control study.Methods: Genotyping for the 174G --> C promoter polymorphism of IL-6 was performed in adult patients with Gaucher disease for whom there was concurrent bone mineral density (BMD) data and in healthy Ashkenazi Jewish controls.Results: The prevalence of allelic variants (58% G/G, 36% G/C, and 6% C/C) was similar in Ashkenazi Jewish adults with Gaucher disease as in Ashkenazi Jewish controls, but significantly different (p < 0.05) from that reported among Caucasians. No statistically significant correlation was found between IL-6 genotypes and BMD or markers of severity of Gaucher disease. Patients with the C/C genotype had relatively mild Gaucher disease.Discussion: The IL-6 polymorphisms appear to be distributed differently in Ashkenazi Jews than among other Caucasians. In Gaucher disease, the C/C genotype may be associated with a milder Gaucher phenotype, and may serve as a mitigating genetic modifier.