慢性胰腺炎候选易感基因的研究进展

已发现阳离子胰蛋白酶原（PRSS1）基因、囊性纤维化跨膜传导调节因子（CFTR）基因和胰分泌性胰蛋白酶抑制剂Kaza11型（SPINK1）基因突变可显著提高个体对慢性胰腺炎（CP）的易感性。大量研究结果显示CTRC基因很可能为CP易感基因研究的新热点；TNF-238A基因、UGT1A7基因、CASR基因或乙醇脱氢酶（ADH）、乙醛脱氢酶（ALDH）2及羧基酯脂肪酶（CEL）等与酒精代谢有关的基因等亦被认为有较好研究前景；GSTT-1＊A和角蛋白8的作用尚难界定；而血色素沉着症基因（HFE）、二氧化锰超氧化剂物歧化酶（MnSOD）和谷胱甘肽转移酶同工酶（GSTP1）基因很可能与CP无关。但这仅仅是研究的开始，为彻底阐明CP易感基因之谜尚需付出巨大努力。

Researches on relationship between gene mutations and chronic pancreatitits

Mutations or polymorphisms in predisposing genes such as cationic trypsinogen （ PRSS1 ） , pancreatic secretory trypsin inhibitor （PSTI） , also known as the serine protease inhibitor, Kazal type 1 （ SPINK1 ） and cystic fibrosis transmembrane conductance regulator （CFTR） play considerable roles in increasing an individu- al＇s susceptibility to develop chronic pancreatitis （CP）. But there are many underlying genetic defects are still unknown. Researches are being performed to elucidate other high-risk genetic mutations or polymorphisms which are related to the pathogenesis, etiology or clinical presents of CP. The predisposing genes which may be related to CP are chymotrypsinogen C gene, keratin 8 gene, tumor necrosis factor alpha gene, polymorphisms of UDP-glucuronosyltransferase 1 A7 gene, functional glutathione S-transferases T1 genotype, calcium-sensing receptor gene, alcohol dehydrogenase gene, aldehyde dehydrogenase 2 gene, carboxyl ester lipase gene. But the results are preliminary and undeterminable, and the detailed pathogenic mechanisms of these genes in CP were pending.