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In a cohort of 164 cystic fibrosis (CF) patients, Multifactor Dimensionality Reduction analysis identified an interaction between CFTR mutations and the SLC11A1 intronic variant rs17235416 that was associated with earlier onset of digestive symptoms and exocrine pancreatic insufficiency (n=164) (PMID:29635781). No rare coding SLC11A1 variants or familial segregation data have been reported in CF, indicating that SLC11A1 acts as a modifier gene rather than a primary cause. The evidence is limited to a single statistical modifier study without independent replication or mechanistic follow-up.
Gene–Disease AssociationLimitedSingle CF modifier study in 164 patients without identification of causative variants or segregation Genetic EvidenceLimitedModifier variant rs17235416 assessed in 164 CF patients, no de novo or familial segregation data Functional EvidenceLimitedNo direct functional studies of SLC11A1 in cystic fibrosis have been reported |