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细胞因子单核苷酸多态性:按种族比较等位基因频率及其对未来研究的意义。

Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies.

作者信息

Van Dyke Alison L, Cote Michele L, Wenzlaff Angie S, Land Susan, Schwartz Ann G

机构信息

Population Studies and Prevention Program, Karmanos Cancer Institute, 4100 John R, Detroit, MI 48201, USA.

出版信息

Cytokine. 2009 May;46(2):236-44. doi: 10.1016/j.cyto.2009.02.003. Epub 2009 Apr 7.

Abstract

The role of inflammation is being considered in chronic diseases. Previous studies have examined SNPs in a few key inflammatory genes and have included small numbers of African American participants. Variation in the frequencies of inflammatory pathway SNPs may help to explain racial disparities in disease risk. Through a population-based study of 103 African American and 380 Caucasian unrelated, healthy women, we examined the relationships between race and allele frequencies of 70 cytokine and cytokine receptor SNPs. The associations between genotypic and haplotype frequencies and race were also analyzed. Allelic frequencies for 52 out of the 70 SNPs meeting criteria for analysis differed significantly by race. Of the 32 pro-inflammatory and 20 anti-inflammatory SNPs for which the allele frequencies varied significantly by race, variant allele frequency differences between Caucasians and African Americans ranged between 6-37% and 7-53% for pro-inflammatory SNPs and anti-inflammatory SNPs, respectively. Our findings suggest that while allele frequencies do vary by race, racial groups are not simplistically represented by a pro-inflammatory or anti-inflammatory genetic profile. Given the racial variability in allele frequencies in inflammatory gene SNPs, studies examining the association between these SNPs and disease should at least incorporate self-reported race in their analyses.

摘要

炎症在慢性疾病中的作用正受到关注。以往的研究检测了少数关键炎症基因中的单核苷酸多态性(SNPs),且纳入的非裔美国参与者数量较少。炎症通路SNPs频率的差异可能有助于解释疾病风险中的种族差异。通过一项基于人群的研究,我们调查了103名非裔美国健康女性和380名非相关的白人健康女性,检测了70个细胞因子和细胞因子受体SNPs的种族与等位基因频率之间的关系。同时也分析了基因型和单倍型频率与种族之间的关联。70个符合分析标准的SNPs中,有52个的等位基因频率在种族间存在显著差异。在32个促炎SNPs和20个抗炎SNPs中,其等位基因频率在种族间有显著差异,其中白人非裔美国人之间促炎SNPs和抗炎SNPs的变异等位基因频率差异分别在6%-37%和7%-53%之间。我们的研究结果表明,虽然等位基因频率确实因种族而异,但种族群体并非简单地由促炎或抗炎基因特征所代表。鉴于炎症基因SNPs的等位基因频率存在种族差异,研究这些SNPs与疾病之间关联的研究至少应在分析中纳入自我报告的种族信息。

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