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本文引用的文献

1
African and non-African admixture components in African Americans and an African Caribbean population.非裔美国人和非洲加勒比人群中的非洲和非非洲混合成分。
Genet Epidemiol. 2010 Sep;34(6):561-8. doi: 10.1002/gepi.20512.
2
Variants of DENND1B associated with asthma in children.与儿童哮喘相关的 DENND1B 变异体。
N Engl J Med. 2010 Jan 7;362(1):36-44. doi: 10.1056/NEJMoa0901867. Epub 2009 Dec 23.
3
A genome-wide association study on African-ancestry populations for asthma.一项针对非洲裔人群哮喘的全基因组关联研究。
J Allergy Clin Immunol. 2010 Feb;125(2):336-346.e4. doi: 10.1016/j.jaci.2009.08.031. Epub 2009 Nov 11.
4
Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children.全基因组关联研究表明,9号染色体q21.31区域是墨西哥儿童哮喘的一个易感基因座。
PLoS Genet. 2009 Aug;5(8):e1000623. doi: 10.1371/journal.pgen.1000623. Epub 2009 Aug 28.
5
17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry.17q12 - 21基因变异与烟雾暴露相互作用,成为儿童哮喘的一个风险因素,但在欧洲裔北美人群中,该变异与早发型哮喘和晚发型哮喘的关联程度相同。
J Allergy Clin Immunol. 2009 Sep;124(3):605-7. doi: 10.1016/j.jaci.2009.05.047. Epub 2009 Aug 5.
6
Common genetic variation and human traits.常见基因变异与人类性状
N Engl J Med. 2009 Apr 23;360(17):1696-8. doi: 10.1056/NEJMp0806284. Epub 2009 Apr 15.
7
A common variant on chromosome 11q13 is associated with atopic dermatitis.11号染色体长臂13区的一个常见变异与特应性皮炎相关。
Nat Genet. 2009 May;41(5):596-601. doi: 10.1038/ng.347. Epub 2009 Apr 6.
8
Asthma and atopy are associated with chromosome 17q21 markers in Chinese children.在中国儿童中,哮喘和特应性与17号染色体q21区域的标记物相关。
Allergy. 2009 Apr;64(4):621-8. doi: 10.1111/j.1398-9995.2008.01873.x. Epub 2009 Jan 27.
9
Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma.ORM1样3(ORMDL3)和gasdermin样(GSDML)基因变异与儿童哮喘
Allergy. 2009 Apr;64(4):629-35. doi: 10.1111/j.1398-9995.2008.01912.x. Epub 2008 Dec 30.
10
Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood.17号染色体q21基因变异与哮喘及病情加重相关,但与儿童早期的特应性无关。
Am J Respir Crit Care Med. 2009 Feb 1;179(3):179-85. doi: 10.1164/rccm.200809-1436OC. Epub 2008 Nov 21.

全基因组关联研究在过敏中的作用及种族的影响。

Genomewide association studies in allergy and the influence of ethnicity.

机构信息

Johns Hopkins Asthma and Allergy Center, Baltimore, Maryland 21224, USA.

出版信息

Curr Opin Allergy Clin Immunol. 2010 Oct;10(5):427-33. doi: 10.1097/ACI.0b013e32833de6ee.

DOI:10.1097/ACI.0b013e32833de6ee
PMID:20724922
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3095101/
Abstract

PURPOSE OF REVIEW

Asthma and allergic diseases are common and disproportionately affect racial and ethnic minorities. Large-scale research efforts and the expense committed to multiple genomewide association studies (GWAS) have led to the identification of numerous susceptibility loci for the allergic diseases, but few successes have been reported in populations that are not of European ancestry.

RECENT FINDINGS

Of the more than two dozen GWAS for asthma and allergic disease performed to date, very few have included racial/ethnic minorities. Lessons learned from the studies conducted so far suggest that the GWAS approach must include considerations unique to the ancestral populations represented in the sample, population stratification due to admixture, and recognition that the current coverage of common variants both in the public database and on commercially available single-nucleotide polymorphism chips is inadequate to detect true genetic associations among ethnic/racial groups.

SUMMARY

Advancements in the GWAS technology for identifying genes relevant to asthma and allergic disease among under-represented ethnic and racial minorities who suffer most will facilitate the identification and confirmation of validated genetic risk factors that are both unique to minority groups as well as confirm risk factors that are generic to the population at large.

摘要

目的综述

哮喘和过敏性疾病较为常见,且在不同种族和民族中的发病率不成比例。大规模的研究工作以及对多个全基因组关联研究(GWAS)的投入,已经确定了许多过敏性疾病的易感基因座,但在非欧洲血统人群中,报道的成功案例却很少。

最新发现

迄今为止,已经进行了 20 多项针对哮喘和过敏性疾病的 GWAS,其中很少有包括少数族裔。从迄今为止进行的研究中吸取的经验教训表明,GWAS 方法必须考虑到样本中代表的祖先人群所特有的因素、由于混合导致的群体分层,以及认识到目前公共数据库和商业上可用的单核苷酸多态性芯片中常见变体的覆盖范围不足以检测到种族/民族群体之间的真正遗传关联。

总结

在代表性不足的少数族裔中,GWAS 技术在识别与哮喘和过敏性疾病相关的基因方面取得了进展,这些少数族裔受到的影响最大,这将有助于确定和确认独特的、针对少数群体的经过验证的遗传风险因素,并确认适用于整个人群的风险因素。