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首页> 外文期刊>Cytokine >Genetic diversity and linkage disequilibrium in the chemokine receptor CCR2-CCR5 region among individuals and populations
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Genetic diversity and linkage disequilibrium in the chemokine receptor CCR2-CCR5 region among individuals and populations

机译：个体和群体中趋化因子受体CCR2-CCR5区中的遗传多样性和联动不平衡

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摘要

Background: Chemokine receptors CCR2 and CCR5 play a key role in immune and inflammatory responses and have been associated with several diseases, including AIDS. In order to comprehend health disparities it is important to understand the nature of genetic variation in specific genes of interest in different populations. Current studies of the CCR2 and CCR5 receptor genes are primarily focused on the CCR5-δ32, and CCR2-V64I SNPs. Methods: Sanger sequencing was used to sequence the regions containing 16 SNPs in the adjacent CCR2 and CCR5 genes (including CCR5-δ32, and CCR2-V64I) in 249 subjects of African, European and Hispanic ancestry. Linkage disequilibrium (LD) and haplotypes were determined using Haploview. Results: The data revealed large differences in allele frequencies of several SNPs and LD patterns among the ethnic groups, including SNPs that were restricted to Africans or Europeans. Seven known CCR5 haplotypes and six novel CCR2 haplotypes were identified. A rare case of an HIV+ subject with the CCR5-δ32/δ32 was identified. Conclusions: These data demonstrate a LD between CCR2 and CCR5 at several loci and provide new information about CCR2 that contributes to our understanding of its population-specific genetic variability. The data indicate that in addition to CCR5-δ32 and CCR2-V64I, other SNPs and haplotypes may be important genetic determinants of disease and should be investigated.
机译：背景：趋化因子受体CCR2和CCR5在免疫和炎症反应中起关键作用，并与几种疾病有关，包括艾滋病。为了理解健康差异，重要的是要了解不同群体的特定基因遗传变异的性质。 CCR2和CCR5受体基因的当前研究主要集中在CCR5-Δ32和CCR2-V64i SNP上。方法：Sanger测序用于将含有16个SNP的区域序列在非洲，欧洲和西班牙裔祖先的249个科目中的相邻CCR2和CCR5基因中（包括CCR5-Δ32和CCR2-V64i）。使用HAPLOVIEW测定连接不平衡（LD）和单倍型。结果：数据显示了几种SNP和LD模式的等位基因频率差异，包括仅限于非洲人或欧洲人的SNP。鉴定了七种已知的CCR5单倍型和六种新的CCR2单倍型。鉴定了具有CCR5-Δ32/Δ32的罕见含有HIV +受试者的壳体。结论：这些数据在几个基因座的CCR2和CCR5之间展示了LD，并提供了有关我们对其人口特异性遗传变异性的了解的新信息。数据表明，除CCR5-Δ32和CCR2-V64i之外，其他SNP和单倍型也可能是疾病的重要遗传决定因素，并且应该被研究。

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  • 来源
    《Cytokine》 |2013年第2期|共6页
  • 作者

    LawhornC.; YuferovV.; RandesiM.; HoA.; MorgelloS.; KreekM.J.; LevranO.;

  • 作者单位

    Laboratory of the Biology of Addictive Diseases Rockefeller University New York NY United States;

    Laboratory of the Biology of Addictive Diseases Rockefeller University New York NY United States;

    Laboratory of the Biology of Addictive Diseases Rockefeller University New York NY United States;

    Laboratory of the Biology of Addictive Diseases Rockefeller University New York NY United States;

    Manhattan HIV Brain Bank Department of Neurology Neuroscience and Pathology Mount Sinai School;

    Laboratory of the Biology of Addictive Diseases Rockefeller University New York NY United States;

    Laboratory of the Biology of Addictive Diseases Rockefeller University New York NY United States;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 细胞生物学;
  • 关键词

    CCR2; CCR5; Chemokine receptors; Ethnicity; Health disparities;

    机译：CCR2;CCR5;趋化因子受体;种族;健康差异;

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