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@article{Guillen-Guio:2024:10.1183/23120541.00553-2023,
author = {Guillen-Guio, B and Paynton, ML and Allen, RJ and Chin, DPW and Donoghue, LJ and Stockwell, A and Leavy, OC and Hernandez-Beeftink, T and Reynolds, C and Cullinan, P and Martinez, F and Booth, HL and Fahy, WA and Hall, IP and Hart, SP and Hill, MR and Hirani, N and Hubbard, RB and McAnulty, RJ and Millar, AB and Navaratnam, V and Oballa, E and Parfrey, H and Saini, G and Sayers, I and Tobin, MD and Whyte, MKB and Adegunsoye, A and Kaminski, N and Ma, S-F and Strek, ME and Zhang, Y and Fingerlin, TE and Molina-Molina, M and Neighbors, M and Sheng, XR and Oldham, JM and Maher, TM and Molyneaux, PL and Flores, C and Noth, I and Schwartz, DA and Yaspan, BL and Jenkins, RG and Wain, LV and Hollox, EJ},
doi = {10.1183/23120541.00553-2023},
journal = {ERJ Open Res},
title = {Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis.},
url = {http://dx.doi.org/10.1183/23120541.00553-2023},
volume = {10},
year = {2024}
}

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TY  - JOUR
AB  - INTRODUCTION: Idiopathic pulmonary fibrosis (IPF) is a chronic interstitial pneumonia marked by progressive lung fibrosis and a poor prognosis. Recent studies have highlighted the potential role of infection in the pathogenesis of IPF, and a prior association of the HLA-DQB1 gene with idiopathic fibrotic interstitial pneumonia (including IPF) has been reported. Owing to the important role that the human leukocyte antigen (HLA) region plays in the immune response, here we evaluated if HLA genetic variation was associated specifically with IPF risk. METHODS: We performed a meta-analysis of associations of the HLA region with IPF risk in individuals of European ancestry from seven independent case-control studies of IPF (comprising 5159 cases and 27 459 controls, including a prior study of fibrotic interstitial pneumonia). Single nucleotide polymorphisms, classical HLA alleles and amino acids were analysed and signals meeting a region-wide association threshold of p<4.5×10-4 and a posterior probability of replication >90% were considered significant. We sought to replicate the previously reported HLA-DQB1 association in the subset of studies independent of the original report. RESULTS: The meta-analysis of all seven studies identified four significant independent single nucleotide polymorphisms associated with IPF risk. However, none met the posterior probability for replication criterion. The HLA-DQB1 association was not replicated in the independent IPF studies. CONCLUSION: Variation in the HLA region was not consistently associated with risk in studies of IPF. However, this does not preclude the possibility that other genomic regions linked to the immune response may be involved in the aetiology of IPF.
AU  - Guillen-Guio,B
AU  - Paynton,ML
AU  - Allen,RJ
AU  - Chin,DPW
AU  - Donoghue,LJ
AU  - Stockwell,A
AU  - Leavy,OC
AU  - Hernandez-Beeftink,T
AU  - Reynolds,C
AU  - Cullinan,P
AU  - Martinez,F
AU  - Booth,HL
AU  - Fahy,WA
AU  - Hall,IP
AU  - Hart,SP
AU  - Hill,MR
AU  - Hirani,N
AU  - Hubbard,RB
AU  - McAnulty,RJ
AU  - Millar,AB
AU  - Navaratnam,V
AU  - Oballa,E
AU  - Parfrey,H
AU  - Saini,G
AU  - Sayers,I
AU  - Tobin,MD
AU  - Whyte,MKB
AU  - Adegunsoye,A
AU  - Kaminski,N
AU  - Ma,S-F
AU  - Strek,ME
AU  - Zhang,Y
AU  - Fingerlin,TE
AU  - Molina-Molina,M
AU  - Neighbors,M
AU  - Sheng,XR
AU  - Oldham,JM
AU  - Maher,TM
AU  - Molyneaux,PL
AU  - Flores,C
AU  - Noth,I
AU  - Schwartz,DA
AU  - Yaspan,BL
AU  - Jenkins,RG
AU  - Wain,LV
AU  - Hollox,EJ
DO  - 10.1183/23120541.00553-2023
PY  - 2024///
SN  - 2312-0541
TI  - Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis.
T2  - ERJ Open Res
UR  - http://dx.doi.org/10.1183/23120541.00553-2023
UR  - https://www.ncbi.nlm.nih.gov/pubmed/38375425
VL  - 10
ER  -

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