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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 555 - 560 (6page)
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초록· 키워드
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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.
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참고문헌 (33)
참고문헌 신청
Witt H / 2010 / Genetics of pancreatitis: a guide for clinicians / Dig Dis 28:702~708
Le Bodic L / 1996 / The hereditary pancreatitis gene maps to long arm of chromosome 7 / Hum Mol Genet 5:549~554
Whitcomb DC / 1996 / A gene for hereditary pancreatitis maps to chromosome 7q35 / Gastroenterology 110:1975~1980
Comfort MW / 1952 / Pedigree of a family with hereditary chronic relapsing pancreatitis / Gastroenterology 21:54~63
Nemoda Z / 2006 / Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen / J Biol Chem 281:11879~11886
Le Bodic L / 1996 / The hereditary pancreatitis gene maps to long arm of chromosome 7 / Hum Mol Genet 5:549~554
Whitcomb DC / 1996 / A gene for hereditary pancreatitis maps to chromosome 7q35 / Gastroenterology 110:1975~1980
Comfort MW / 1952 / Pedigree of a family with hereditary chronic relapsing pancreatitis / Gastroenterology 21:54~63
Nemoda Z / 2006 / Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen / J Biol Chem 281:11879~11886
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