Transporter associated with antigen processing (TAP) 1 gene polymorphisms in patients with hypersensitivity pneumonitis

• Published in: Experimental and molecular pathology Vol. 84; no. 2; pp. 173 - 177
• Main Authors: Aquino-Galvez, Arnoldo, Camarena, Ángel, Montaño, Martha, Juarez, Armida, Zamora, Ana C., González-Avila, Georgina, Checa, Marco, Sandoval-López, Gabriel, Vargas-Alarcon, Gilberto, Granados, Julio, Pardo, Annie, Zúñiga, Joaquín, Selman, Moisés
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Inc 01.04.2008; Elsevier
• Subjects: Alveolitis, Extrinsic Allergic - genetics; Alveolitis, Extrinsic Allergic - pathology; ATP-Binding Cassette Sub-Family B Member 2; ATP-Binding Cassette Transporters - genetics; Biological and medical sciences; Chemical and industrial products toxicology. Toxic occupational diseases; Gene Frequency; Genetic Predisposition to Disease; Genetic susceptibility; Genotype; Humans; Hypersensitivity pneumonitis; Inorganic dusts (pneumoconiosises) and organic dusts (byssinosis etc.); Investigative techniques, diagnostic techniques (general aspects); Major histocompatibility complex (MHC); Medical sciences; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Polymorphism, Single Nucleotide; TAP1; Toxicology; Transporter associated with antigen processing genes; Transporter associated with antigen processing genes; TAP1; Major histocompatibility complex (MHC); Genetic susceptibility; Hypersensitivity pneumonitis; Human; Allergy; Immunopathology; Lung disease; Genetic variability; Occupational disease; Respiratory disease; Major histocompatibility system; Genotype; Transporter associated antigen processing; Transporter associated with antigen processing 1; Anatomic pathology; Sensitivity; Gene; Interstitial pneumonitis; Genetics; Bird breeder lung
• DOI: 10.1016/j.yexmp.2008.01.002
• ISSN: 0014-4800

Hypersensitivity pneumonitis (HP) is a lung inflammatory disease caused by the inhalation of a variety of antigens. Previous studies support the role of the major histocompatibility complex (MHC) class II genes in the susceptibility to develop HP. However, the putative role of other MHC loci has not been elucidated. Transporters associated with antigen processing (TAP) genes are located within the MHC class II region and play an important role transporting peptides across the endoplasmic reticulum membrane for MHC class I molecules assembly. The distribution of single nucleotide polymorphisms (SNPs) in TAP1 genes was analyzed in 73 hypersensitivity pneumonitis (HP) patients and 58 normal subjects. We found a significant association of the allele Gly-637 (GGC) ( p = 0.00004, OR = 27.30, CI = 3.87–548.04) and the genotypes Asp-637/Gly-637 ( p = 0.01, OR = 16.0, CI = 2.19–631.21), Pro-661/Pro-661 ( p = 0.006, OR = 11.30, CI = 2.28–75.77) with HP. A significant decrease in the frequency of the allele Pro-661 (CCA) ( p = 0.008, OR = 0.06, CI = 0–0.45), the genotype Asp-637/Asp-637 ( p = 0.01, OR = 0.17, 95% CI = 0.05–0.58) and the haplotype [Val-333 (GTC), Val-458 (GTG), Gly-637 (GGC), Pro-661 (CCA)] was detected in HP patients compared with controls ( p = 0.002, OR = 0.07, CI = 0.0–0.57). These findings suggest that TAP1 gene polymorphisms are related to HP risk, and highlight the importance of the MHC in the development of this disease.