Yan Qi, Brehm John, Pino-Yanes Maria, Forno Erick, Lin Jerome, Oh Sam S, Acosta-Perez Edna, Laurie Cathy C, Cloutier Michelle M, Raby Benjamin A, Stilp Adrienne M, Sofer Tamar, Hu Donglei, Huntsman Scott, Eng Celeste S, Conomos Matthew P, Rastogi Deepa, Rice Kenneth, Canino Glorisa, Chen Wei, Barr R Graham, Burchard Esteban G, Celedón Juan C
Division of Pediatric Pulmonary Medicine, Allergy, and Immunology, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain.
Eur Respir J. 2017 May 1;49(5). doi: 10.1183/13993003.01505-2016. Print 2017 May.
Puerto Ricans are disproportionately affected with asthma in the USA. In this study, we aim to identify genetic variants that confer susceptibility to asthma in Puerto Ricans.We conducted a meta-analysis of genome-wide association studies (GWAS) of asthma in Puerto Ricans, including participants from: the Genetics of Asthma in Latino Americans (GALA) I-II, the Hartford-Puerto Rico Study and the Hispanic Community Health Study. Moreover, we examined whether susceptibility loci identified in previous meta-analyses of GWAS are associated with asthma in Puerto Ricans.The only locus to achieve genome-wide significance was chromosome 17q21, as evidenced by our top single nucleotide polymorphism (SNP), rs907092 (OR 0.71, p=1.2×10) at Similar to results in non-Puerto Ricans, SNPs in genes in the same linkage disequilibrium block as (, and ) were significantly associated with asthma in Puerto Ricans. With regard to results from a meta-analysis in Europeans, we replicated findings for rs2305480 at , but not for SNPs in any other genes. On the other hand, we replicated results from a meta-analysis of North American populations for SNPs at , and but not for Our findings suggest that common variants on chromosome 17q21 have the greatest effects on asthma in Puerto Ricans.
在美国,波多黎各人患哮喘的比例过高。在本研究中,我们旨在确定使波多黎各人易患哮喘的基因变异。我们对波多黎各人哮喘的全基因组关联研究(GWAS)进行了荟萃分析,其中的参与者来自:拉丁裔美国人哮喘遗传学(GALA)I-II研究、哈特福德-波多黎各研究以及西班牙裔社区健康研究。此外,我们还研究了先前GWAS荟萃分析中确定的易感基因座是否与波多黎各人的哮喘相关。唯一达到全基因组显著性的基因座是17号染色体q21,这由我们最显著的单核苷酸多态性(SNP)rs907092(比值比0.71,p = 1.2×10)证明,该SNP位于 。与非波多黎各人的结果相似,与 处于相同连锁不平衡区域的基因中的SNP( 、 和 )与波多黎各人的哮喘显著相关。关于欧洲人的荟萃分析结果,我们重复了rs2305480在 处的发现,但未重复其他任何基因中SNP的发现。另一方面,我们重复了北美人群荟萃分析中 、 和 处SNP的结果,但未重复 处SNP的结果。我们的研究结果表明,17号染色体q21上的常见变异对波多黎各人的哮喘影响最大。