Search results for "Trypsinogen activation"

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Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis

2006

Background and aims: Tropical calcific pancreatitis (TCP) is a type of chronic pancreatitis unique to countries in the tropics. Mutations in pancreatic secretory trypsin inhibitor (SPINK1) rather than cationic trypsinogen (PRSS1) explain the disease in only 50% of TCP patients. As cathepsin B (CTSB) is known to activate cationic trypsinogen, we attempted to understand the role of CTSB mutations in TCP. Evidence of epistatic interaction was investigated with the previously associated N34S SPINK1 allele, a variant considered to be a modifier rather than a true susceptibility allele. Subjects and methods: We sequenced the coding region of CTSB gene in 51 TCP patients and 25 controls and furthe…

Malemedicine.medical_specialtyTrypsinogenSingle-nucleotide polymorphismBiologyPolymerase Chain ReactionGastroenterologyCathepsin BCathepsin Bchemistry.chemical_compoundGene FrequencyPancreatitis ChronicInternal medicinemedicineHumansGenetic Predisposition to DiseaseTrypsinogen activationAlleleAllele frequencyGeneticsPolymorphism GeneticHaplotypeGastroenterologyCase-control studyCalcinosisHaplotypesPancreatitischemistryCase-Control StudiesMutationAcute DiseaseFemaleGut
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