Chronic pancreatitis is a persistent inflammation of the pancreas that results in irreversible morphological changes and impairment of both exocrine and endocrine functions. Genetic studies of the disease over the past 15 years have led to the identification of four firmly established susceptibility genes namely PRSS1, SPNIK1, CTRC and CFTR. Our previously published review (Chen and Férec. Annu Rev Genomics Hum Genet 2009) has comprehensively summarized the advances made in terms of genetics and pathogenesis of chronic pancreatitis, covering the data available up to early 2009. This review summarizes the important and representative findings published thereafter, focusing on (i) newly found disease-causing mutations, (ii) functional characterization of known variations and (iii) genotype and phenotype relationship.
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