PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.
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.
['Cho|Sun Mi|SM|', 'Shin|Saeam|S|', 'Lee|Kyung A|KA|']
D000293:Adolescent D000328:Adult D000368:Aged D000369:Aged, 80 and over D044466:Asians D002352:Carrier Proteins D002648:Child D002675:Child, Preschool D002918:Chymotrypsin D019005:Cystic Fibrosis Transmembrane Conductance Regulator D056915:DNA Copy Number Variations D005260:Female D006579:Heterozygote D006801:Humans D007223:Infant D008297:Male D008875:Middle Aged D050500:Pancreatitis, Chronic D011110:Polymorphism, Genetic D056910:Republic of Korea D014357:Trypsin D014359:Trypsin Inhibitor, Kazal Pancreatic D055815:Young Adult
PRSS1 SPINK1 CFTR CTRC Pancreatitis