Identification of a functional enhancer variant within the chronic pancreatitis‐associated SPINK1 c.101A>G (p.Asn34Ser)‐containing haplotype
نویسندگان
چکیده
منابع مشابه
Is the SPINK1 p.Asn34Ser Missense Mutation Per se the True Culprit within its Associated Haplotype?
Although SPINK1, which encodes the pancreatic secretory trypsin inhibitor (PSTI), has been firmly established as a chronic pancreatitis-predisposing gene, the causal variant within the most common c.101A>G (p.Asn34Ser)-containing haplotype remains to be identified. The low penetrance of this haplotype implies a minor effect on gene expression and/or protein function; such a minor effect may not...
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Pathways to Injury in Chronic Pancreatitis: Decoding the Role of the High-Risk SPINK1 N34S Haplotype Using Meta-Analysis
BACKGROUND The complex interactions between recurrent trypsin-mediated pancreatic injury, alcohol-associated pancreatic injury and SPINK1 polymorphisms in chronic pancreatitis (CP) are undefined. We hypothesize that CP occurs as a result of multiple pathological mechanisms (pathways) that are initiated by different metabolic or environmental factors (etiologies) and may be influenced differenti...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2017
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.23269