世界上大约有3亿哮喘患者，哮喘是一种慢性疾病，其特征是气喘、呼吸困难、咳嗽和胸部紧迫感。如今，两个研究小组在各自独立的研究中鉴别出与哮喘相关的4种新基因变异，新成果发表在8月在线出版的《自然—遗传学》期刊上。
科学家鉴别出与哮喘相关新遗传位点
Dara Torgerson和同事报告，通过对来自不同种族群体的18065人进行分析，他们在基因 PYHIN1上鉴别出与哮喘相关的一个新遗传位点。这种相关只针对非洲血统的人群。
在另一项研究中，Mayumi Tamari分析了7171位日本哮喘患者，在这类亚洲人群中鉴别出与哮喘易患性有关的3个新遗传位点。
生物探索推荐英文摘要
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations
Asthma is a common disease with a complex risk architecture including both genetic and environmental factors. We performed a meta-analysis of North American genome-wide association studies of asthma in 5,416 individuals with asthma (cases) including individuals of European American, African American or African Caribbean, and Latino ancestry, with replication in an additional 12,649 individuals from the same ethnic groups. We identified five susceptibility loci. Four were at previously reported loci on 17q21, near IL1RL1, TSLP and IL33, but we report for the first time, to our knowledge, that these loci are associated with asthma risk in three ethnic groups. In addition, we identified a new asthma susceptibility locus at PYHIN1, with the association being specific to individuals of African descent (P = 3.9 × 10−9). These results suggest that some asthma susceptibility loci are robust to differences in ancestry when sufficiently large samples sizes are investigated, and that ancestry-specific associations also contribute to the complex genetic architecture of asthma.
