Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis

Hyuck Lee Kwang, Ji Kon Ryu, Jae Yoon Won, Kyu Lee Jun, Yong Tae Kim, Bum Yoon Yong

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22 Scopus citations


Several genetic mutations have been reported to increase susceptibility to chronic pancreatitis. However, their roles in alcoholic chronic pancreatitis are controversial. We investigated the prevalence of SPINK1 N34S and new CFTR Q1352H mutations in alcoholic chronic pancreatitis in Korea. Forty-three patients with alcoholic chronic pancreatitis were enrolled and 35 healthy individuals served as controls. The SPINK1 N34S mutation was detected by the PCR-RFLP technique. The CFTR Q1352H mutation was examined with PCR direct sequencing. Mean age of chronic pancreatitis and control groups was 53.2 and 51.3 years, respectively. A SPINK1 N34S was detected as a heterozygote in one (2.4%) patient with alcoholic chronic pancreatitis and a heterozygote CFTR Q1352H was detected in one other patient. In the control population, neither SPINK1 nor CFTR mutation was detected. This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an important role in chronic alcoholic pancreatitis in Korea.

Original languageEnglish
Pages (from-to)1852-1856
Number of pages5
JournalDigestive Diseases and Sciences
Issue number10
StatePublished - Oct 2005

Bibliographical note

Funding Information:
This article was supported in part by Grant No. 04-2005-010 from the Seoul National University Hospital Research Fund.


  • Alcohol
  • CFTR
  • Chronic pancreatitis
  • SPINK1


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