英国1958年出生人口中哮喘危险因素与原位克隆哮喘易感基因的多态性之间的关系
2009/07/30
为了评价原位克隆哮喘候补基因ADAM33, PHF11, DPP10, GPRA 和 PTGDR的多态性与哮喘发病危险因素之间的联系，Blakey等人在全国范围内进行了一项大型调查，他们选择了英国白人家族中1958年出生的独生子作为研究人群(n = 7703)，询问其喘息症状，测其总IgE、特异性IgE、肺功能，同时对其某些基因型和单核苷酸多态性(SNPs)进行相关分析。
研究结果显示：通过SNPs标记 DPP10，识别出DPP10 和 ADAM33基因的多态性略有升高，但这种升高在评价哮喘发病危险性方面是非常有意义的， 而在研究人群的基因型中，没有发现有哪一个基因的某个SNP可以显著升高。由此可得出在英国人中DPP10和ADAM33基因型与哮喘发病的危险性相关。尽管如此，目前已知的研究不足，对某种疾病的危险性的遗传基因相关研究需要对多个基因的多重多态形的进行更深入的研究。
研究结果显示：通过SNPs标记 DPP10，识别出DPP10 和 ADAM33基因的多态性略有升高，但这种升高在评价哮喘发病危险性方面是非常有意义的， 而在研究人群的基因型中，没有发现有哪一个基因的某个SNP可以显著升高。由此可得出在英国人中DPP10和ADAM33基因型与哮喘发病的危险性相关。尽管如此，目前已知的研究不足，对某种疾病的危险性的遗传基因相关研究需要对多个基因的多重多态形的进行更深入的研究。
（于娜 沈阳中国医科大学附属第一医院呼吸内科 110001 摘译）
（Thorax 2009;64:381-387）
Positionally cloned asthma susceptibility gene polymorphisms and disease risk in the British 1958 Birth Cohort
J D Blakey1, I Sayers1, S M Ring2, D P Strachan3 and I P Hall1
Objective: The aim of this study was to estimate the contribution of polymorphisms in the positionally cloned asthma candidate genes ADAM33, PHF11, DPP10, GPRA and PTGDR to the risk of asthma, total and specific immunoglobulin E level, lung function and wheezing in a large, nationally representative, population.
Methods: An association analysis was undertaken using genotype data for tagging and previously associated single nucleotide polymorphisms (SNPs) in regions of these genes and longitudinal phenotype data from singletons of white ethnicity in the British 1958 Birth Cohort DNA archive (n = 7703). Population-attributable risk fractions for SNPs showing association were calculated.
Results: Polymorphisms producing small but statistically significant increases in asthma risk (OR 1.1 per allele) were identified in DPP10 and ADAM33, with the strongest evidence being for SNPs tagging the DPP10 gene. No individual SNP in any gene under study markedly increased risk for any of the phenotypes in the population studied.
Conclusions: These data suggest that DPP10 and ADAM33 influence asthma risk in the UK population. However, the effects driven by any given locus are small, and genotyping of multiple polymorphisms in many genes will be needed to define a full genetic profile for disease risk.
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