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CFTRBD variants (except p.R75Q) magnify the risk for chronic pancreatitis by approximately 2-4-fold.
A study published in "PLoS One" indicated that heterozygous bicarbonate defective cystic fibrosis transmembrane conductance regulator (CFTRBD) variants, with the sole exception of p.R75Q, are associated with a rise in chronic pancreatitis risk about 2-4-fold. Through a meta-analysis of issued case-control studies, researchers sought to determine the role of heterozygous CFTRBD variants in chronic pancreatitis.
A thorough search was done in CENTRAL, MEDLINE, Scopus, and Embase databases to search for studies that stated the CFTRBD variants p.R74Q, p.R75Q, p.R117H, p.R170H, p.L967S, p.L997F, p.D1152H, p.S1235R, and p.D1270N in chronic pancreatitis patients and controls. There were 22 papers that qualified for the quantitative synthesis. The nine CFTRBD variants were combinedly analyzed.
The results illustrated enrichment in chronic pancreatitis patients compared to controls (OR = 2.31). p.R75Q was not connected with chronic pancreatitis (OR = 1.12), whereas p.R117H and p.L967S were considerably overrepresented in cases compared to controls (OR = 3.16 and OR = 3.88, respectively) by individual CFTRBD variant analysis. When the remaining 6 low-frequency variations were examined individually, the results were equivocal. However, their combined analysis revealed a connection with chronic pancreatitis (OR = 2.08).
PLoS One
Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis
Gergő Berke et al.
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