1. Susceptibility genes for lung diseases in the major histocompatibility complex revealed by lung expression quantitative trait loci analysis
- Author
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Don D. Sin, Ke Hao, Philippe Joubert, Michel Laviolette, Yohan Bossé, Wim Timens, Dirkje S. Postma, David C. Nickle, Maxime Lamontagne, Peter D. Paré, Groningen Research Institute for Asthma and COPD (GRIAC), and Guided Treatment in Optimal Selected Cancer Patients (GUTS)
- Subjects
Lung Diseases ,Male ,0301 basic medicine ,Pulmonary and Respiratory Medicine ,Pathology ,medicine.medical_specialty ,Quantitative Trait Loci ,Quantitative trait locus ,Major histocompatibility complex ,Polymorphism, Single Nucleotide ,Major Histocompatibility Complex ,03 medical and health sciences ,0302 clinical medicine ,Pulmonary fibrosis ,medicine ,Humans ,Genetic Predisposition to Disease ,Lung cancer ,Idiopathic interstitial pneumonia ,Asthma ,Lung ,biology ,business.industry ,PULMONARY-FIBROSIS ,respiratory system ,medicine.disease ,3. Good health ,respiratory tract diseases ,030104 developmental biology ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Expression quantitative trait loci ,Immunology ,biology.protein ,Female ,business - Abstract
The major histocompatibility complex (MHC) has been linked with hundreds of diseases [1]. The MHC is one of the most complex regions of the human genome, because of the high gene density, extended linkage disequilibrium (LD) and sequence diversity [2]. Recent genome-wide association studies (GWAS) have identified polymorphisms located in the MHC that are associated with lung diseases and related traits: asthma, cystic fibrosis, idiopathic interstitial pneumonia, lung cancer and lung function. However, due to the limitations of GWAS and tissue-specific characteristics of gene expression [3], the causal genes and genetic mechanisms mediating the heritable risk within this locus remain to be found.
- Published
- 2016
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