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medRxiv PreprintsInternational11 November 2026

Mucin VNTR haplogroup associations with idiopathic pulmonary fibrosis are not independent of rs35705950

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Background: The MUC5B promoter variant (rs35705950) is the strongest common genetic risk factor for idiopathic pulmonary fibrosis (IPF). MUC5B and MUC5AC contain variable number tandem repeat (VNTR) regions. Long-read sequencing resolves MUC5AC into three SNP-tagged haplogroups (H1, H2, H3) differing in repeat length, and MUC5B into two (H1, H2) differing in lineage but not length. The tags correlate with rs35705950, so whether a haplogroup effect is distinguishable from the promoter variant is unclear. Methods: We assigned MUC5AC and MUC5B haplogroups from imputed chromosome 11 array data in
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