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

Authors
 Sun-Mi Cho  ;  Saeam Shin  ;  Kyung-A Lee 
Citation
 Annals of Laboratory Medicine, Vol.36(6) : 555-560, 2016 
Journal Title
 Annals of Laboratory Medicine 
ISSN
 2234-3806 
Issue Date
2016
MeSH
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* ; Pancreatitis, Chronic/pathology ; Polymorphism, Genetic ; Republic of Korea ; Trypsin/genetics* ; Trypsin Inhibitor, Kazal Pancreatic ; Young Adult
Keywords
CFTR ; CTRC ; PRSS1 ; Pancreatitis ; SPINK1
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.
Files in This Item:
T201603640.pdf Download
DOI
10.3343/alm.2016.36.6.555
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
신새암(Shin, Saeam) ORCID logo https://orcid.org/0000-0003-1501-3923
이경아(Lee, Kyung A) ORCID logo https://orcid.org/0000-0001-5320-6705
조선미(Cho, Sun Mi)
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/152128
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