The abstract is read at the publisher; the summary is JClub's.
MUC5AC H3 and MUC5B H1 haplogroups are linked to idiopathic pulmonary fibrosis in European-ancestry Job Exposures Study participants, but their signals attenuate after adjusting for rs35705950.
- Why it matters: rs35705950 is the strongest common genetic risk factor for IPF, and VNTR haplogroup tags correlate with it, leaving unclear whether VNTR effects are independent.
- What they did: Haplogroups for MUC5AC and MUC5B were assigned from imputed chromosome 11 array data in 771 participants (385 cases, 386 controls), using logistic regression with and without rs35705950; TOPMed was used for replication (1,961 cases, 3,816 controls).
- The result: After rs35705950 adjustment, MUC5AC H3 (OR 1.10, p=0.52) and MUC5B H1 (OR 0.82, p=0.25) lost association, while MUC5AC H2 persisted in the discovery set (OR 0.69, p=0.017) but did not replicate in TOPMed.
The findingWhy it mattersWhat they didThe result
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