Ann Lab Med.  2016 Nov;36(6):555-560. 10.3343/alm.2016.36.6.555.

PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis

• Cho SM
• Shin S
• Lee KA

• KMID: 2373594
• DOI: http://doi.org/10.3343/alm.2016.36.6.555

Abstract

BACKGROUND
This study aimed to identify pathogenic variants of PRSS1, SPINK1, CFTR, and CTRC genes in Korean patients with idiopathic pancreatitis.
METHODS
The study population consisted of 116 Korean subjects (65 males, 51 females; mean age, 30.4 yr, range, 1-88 yr) diagnosed with idiopathic chronic pancreatitis (ICP), idiopathic recurrent acute pancreatitis (IRAP), or idiopathic acute pancreatitis (IAP). We analyzed sequences of targeted regions in the PRSS1, SPINK1, CFTR, and CTRC genes, copy numbers of PRSS1 and SPINK1, and clinical data from medical records.
RESULTS
We identified three types of pathogenic PRSS1 variants in 11 patients, including p.N29I (n=1), p.R122H (n=1), and p.G208A (n=9). Sixteen patients exhibited heterozygous pathogenic variants of SPINK1, including c.194+2T>C (n=12), p.N34S (n=3), and a novel pathogenic splicing variation c.194+1G>A. A heterozygous CFTR p.Q1352H pathogenic variant was detected in eight patients. One patient carried a heterozygous CTRC p.P249L pathogenic variant, which is a known high-risk variant for pancreatitis. All patients had normal PRSS1 and SPINK1 gene copy numbers. Weight loss occurred more frequently in patients carrying the p.G208A pathogenic variant, while pancreatic duct stones occurred more frequently in patients with the c.194+2T>C pathogenic variant.
CONCLUSIONS
Pathogenic variants of PRSS1, SPINK1, and CFTR were associated with idiopathic pancreatitis, while pathogenic variants of CTRC were not. Copy number variations of PRSS1 and SPINK1 were not detected.

Keyword

Pancreatitis; PRSS1; SPINK1; CFTR; CTRC

MeSH Terms

Adolescent
Adult
Aged
Aged, 80 and over
Asian Continental Ancestry Group/*genetics
Carrier Proteins/*genetics
Child
Child, Preschool
Chymotrypsin/*genetics
Cystic Fibrosis Transmembrane Conductance Regulator/*genetics
DNA Copy Number Variations
Female
Heterozygote
Humans
Infant
Male
Middle Aged
Pancreatitis, Chronic/*genetics/pathology
Polymorphism, Genetic
Republic of Korea
Trypsin/*genetics
Young Adult
Carrier Proteins
Cystic Fibrosis Transmembrane Conductance Regulator
Chymotrypsin
Trypsin

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