Genetic susceptibility to multicase hypersensitivity pneumonitis is associated with the TNF-238 GG genotype of the promoter region and HLA-DRB104 bearing HLA haplotypes

Summary Hypersensitivity Pneumonitis (HP) is a lung inflammatory disorder caused by inhalation of organic particles by a susceptible host. Since only a small proportion of individuals exposed to HP-related antigens develop the disease, a genetic predisposition is largely suspected. However, studies...

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Bibliographic Details
Published in:Respiratory medicine 2014-01, Vol.108 (1), p.211-217
Main Authors: Falfán-Valencia, Ramcés, Camarena, Ángel, Pineda, César Landa, Montaño, Martha, Juárez, Armida, Buendía-Roldán, Ivette, Pérez-Rubio, Gloria, Reséndiz-Hernández, Juan Manuel, Páramo, Ignacio, Vega, Anita, Granados, Julio, Zúñiga, Joaquín, Selman, Moisés
Format: Article
Language:English
Subjects:
Adult
Aged
Alleles
Alveolitis, Extrinsic Allergic - diagnosis
Alveolitis, Extrinsic Allergic - genetics
Biomarkers - blood
Case-Control Studies
Confidence intervals
Deoxyribonucleic acid
Disease
DNA
Familial HP
Female
Genes
Genetic Predisposition to Disease
Genetic susceptibility
Genetic testing
Genotype & phenotype
Haplotypes
HLA polymorphisms
HLA-DRB1 Chains - genetics
Humans
Hypersensitivity pneumonitis
Male
MHC genes
Middle Aged
Parents
Polymorphism, Genetic
Pulmonary/Respiratory
Siblings
TNF promoter polymorphisms
Tumor Necrosis Factor-alpha - genetics
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Summary:Summary Hypersensitivity Pneumonitis (HP) is a lung inflammatory disorder caused by inhalation of organic particles by a susceptible host. Since only a small proportion of individuals exposed to HP-related antigens develop the disease, a genetic predisposition is largely suspected. However, studies regarding genetic susceptibility in this disease are scanty. We have previously found evidence supporting increased risk associated to the major histocompatibility complex (MHC) in sporadic HP. In the present study, we conducted a family-based research that includes nine multicase families with at least two related HP patients (RHP). We evaluated 19 RHP individuals, 25 additional healthy first-degree relatives (REA) and 246 healthy unrelated individuals (HUI). HLA class II typing (DRB1/3/4/5, DQA1, DQB1, DPA1, DPB1, DMA and DMB), and -863, -308 and -238 polymorphisms in the promoter region of TNF-α were performed by PCR based methods. We identified an increased frequency of HLA-DRB1*04:07, DRB1*04:05, DRB1*11:01 and DRB1*13:01 alleles in RHP individuals compared to healthy controls ( p  
ISSN:0954-6111
1532-3064
DOI:10.1016/j.rmed.2013.11.004