与囊性纤维化肺病严重程度相关的11号染色体p13区域的新型变异
Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.
作者信息
Dang Hong, Gallins Paul J, Pace Rhonda G, Guo Xue-Liang, Stonebraker Jaclyn R, Corvol Harriet, Cutting Garry R, Drumm Mitchell L, Strug Lisa J, Knowles Michael R, O'Neal Wanda K
机构信息
Marsico Lung Institute, CF/Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill , Chapel Hill, NC, USA.
Bioinformatics Research Center, North Carolina State University , Raleigh, NC, USA.
出版信息
Hum Genome Var. 2016 Jul 7;3:16020. doi: 10.1038/hgv.2016.20. eCollection 2016.
Published genome-wide association studies (GWASs) identified an intergenic region with regulatory features on chr11p13 associated with cystic fibrosis (CF) lung disease severity. Targeted resequencing in n=377, followed by imputation to n=6,365 CF subjects, was used to identify unrecognized genetic variants (including indels and microsatellite repeats) associated with phenotype. Highly significant associations were in strong linkage disequilibrium and were seen only in Phe508del homozygous CF subjects, indicating a CFTR genotype-specific mechanism.
已发表的全基因组关联研究（GWAS）确定了11号染色体p13上一个具有调控特征的基因间区域，该区域与囊性纤维化（CF）肺部疾病严重程度相关。对377名受试者进行靶向重测序，随后对6365名CF受试者进行基因填充，以识别与表型相关的未被识别的遗传变异（包括插入缺失和微卫星重复）。高度显著的关联处于强连锁不平衡状态，且仅在苯丙氨酸508缺失纯合CF受试者中出现，表明存在一种CFTR基因型特异性机制。
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