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靶向分析富含非洲血统的基因组区域揭示了与南欧哮喘相关的新的经典 HLA 等位基因。

Targeted analysis of genomic regions enriched in African ancestry reveals novel classical HLA alleles associated with asthma in Southwestern Europeans.

机构信息

Research Unit, Hospital Universitario Nuestra Señora de Candelaria, Universidad de La Laguna, Santa Cruz de Tenerife, Spain.

Genomics Division, Instituto Tecnológico Y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain.

出版信息

Sci Rep. 2021 Dec 8;11(1):23686. doi: 10.1038/s41598-021-02893-w.

DOI:10.1038/s41598-021-02893-w
PMID:34880287
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8654850/
Abstract

Despite asthma has a considerable genetic component, an important proportion of genetic risks remain unknown, especially for non-European populations. Canary Islanders have the largest African genetic ancestry observed among Southwestern Europeans and the highest asthma prevalence in Spain. Here we examined broad chromosomal regions previously associated with an excess of African genetic ancestry in Canary Islanders, with the aim of identifying novel risk variants associated with asthma susceptibility. In a two-stage cases-control study, we revealed a variant within HLA-DQB1 significantly associated with asthma risk (rs1049213, meta-analysis p = 1.30 × 10, OR [95% CI] = 1.74 [1.41-2.13]) previously associated with asthma and broad allergic phenotype. Subsequent fine-mapping analyses of classical HLA alleles revealed a novel allele significantly associated with asthma protection (HLA-DQA101:02, meta-analysis p = 3.98 × 10, OR [95% CI] = 0.64 [0.50-0.82]) that had been linked to infectious and autoimmune diseases, and peanut allergy. HLA haplotype analyses revealed a novel haplotype DQA101:02-DQB1*06:04 conferring asthma protection (meta-analysis p = 4.71 × 10, OR [95% CI] = 0.47 [0.29- 0.73]).

摘要

尽管哮喘有相当大的遗传成分，但很大一部分遗传风险仍然未知，尤其是对于非欧洲人群。加那利群岛居民拥有在西南欧人群中观察到的最大的非洲遗传血统，并且是西班牙哮喘患病率最高的地区。在这里，我们研究了先前与加那利群岛居民非洲遗传血统过剩相关的广泛染色体区域，目的是确定与哮喘易感性相关的新风险变异。在两阶段病例对照研究中，我们发现 HLA-DQB1 内的一个变异与哮喘风险显著相关（rs1049213，荟萃分析 p=1.30×10，OR[95%CI]=1.74[1.41-2.13]），该变异先前与哮喘和广泛的过敏表型相关。随后对经典 HLA 等位基因进行精细映射分析，揭示了一个与哮喘保护显著相关的新等位基因（HLA-DQA101:02，荟萃分析 p=3.98×10，OR[95%CI]=0.64[0.50-0.82]），该等位基因与传染病和自身免疫性疾病以及花生过敏有关。HLA 单倍型分析显示，新型单倍型 DQA101:02-DQB1*06:04 可提供哮喘保护（荟萃分析 p=4.71×10，OR[95%CI]=0.47[0.29-0.73]）。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4625/8654850/5c1b29ca17a1/41598_2021_2893_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4625/8654850/df971cc5116d/41598_2021_2893_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4625/8654850/5c1b29ca17a1/41598_2021_2893_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4625/8654850/df971cc5116d/41598_2021_2893_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4625/8654850/5c1b29ca17a1/41598_2021_2893_Fig2_HTML.jpg

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