Lee Kwang Hyuck, Yoon Won Jae, Ryu Ji Kon, Kim Yong-Tae, Yoon Yong Bum, Kim Chung Yong
Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
Korean J Gastroenterol. 2004 Aug;44(2):93-8.
BACKGROUND/AIMS: It has been found that mutations of cationic trypsinogen gene (PRSS1) and serine protease inhibitor, Kazal type 1 gene (SPINK1) increase the susceptibility of chronic pancreatitis (CP). Specifically, mutations in the PRSS1 gene are related to the occurrences of hereditary and idiopathic pancreatitis while SPINK1 mutations are known to act as a disease modifier and are associated with idiopathic CP. However, the association of SPINK1 mutations with alcoholic CP is still controversial. We investigated the prevalence of PRSS1 and SPINK1 mutations in idiopathic and alcoholic CP in Korea.
Seventy-one Korean patients with CP (alcoholic: 47, idiopathic: 22 and familial: 2) and 19 controls were included in this studies. Genomic DNA was extracted from peripheral blood of the patients. Mutations of SPINK1 (exon 3: N34S) and PRSS1 (exon 2: N29I, exon 3: R122H) genes were detected by PCR-RFLP methods. For the detection of SPINK1 mutation, restriction endonuclease PstI and BsrDI were used, while Sau3A and AflIII were used for the defection of PRSS1 mutation.
Only one patient (2.1%) with alcoholic CP was a heterozygote for SPINK1 (N34S) mutation. Mutation in the PRSS1 (N29I, R122H) gene was not found in any group of CP patients. Additionally, we could not find any mutations of SPINK1 or PRSS1 in the control group.
SPINK1 and PRSS1 mutations are not related to the development of CP in Korea.
背景/目的：已发现阳离子胰蛋白酶原基因（PRSS1）和丝氨酸蛋白酶抑制剂Kazal型1基因（SPINK1）的突变会增加慢性胰腺炎（CP）的易感性。具体而言，PRSS1基因突变与遗传性和特发性胰腺炎的发生有关，而SPINK1突变已知可作为疾病修饰因子，并与特发性CP相关。然而，SPINK1突变与酒精性CP的关联仍存在争议。我们调查了韩国特发性和酒精性CP中PRSS1和SPINK1突变的发生率。
本研究纳入了71例韩国CP患者（酒精性：47例，特发性：22例，家族性：2例）和19例对照。从患者外周血中提取基因组DNA。通过PCR-RFLP方法检测SPINK1（外显子3：N34S）和PRSS1（外显子2：N29I，外显子3：R122H）基因的突变。对于SPINK1突变的检测，使用限制性内切酶PstI和BsrDI，而使用Sau3A和AflIII检测PRSS1突变。
仅1例酒精性CP患者（2.1%）为SPINK1（N34S）突变杂合子。在任何一组CP患者中均未发现PRSS1（N29I，R122H）基因突变。此外，我们在对照组中未发现SPINK1或PRSS1的任何突变。
在韩国，SPINK1和PRSS1突变与CP的发生无关。
