SPINK1 p.N34S 基因突变在白种人慢性胰腺炎患者中的影响的荟萃分析。更新。

Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An update.

机构信息

Gastroenterology and Gastrointestinal Endoscopy Unit, Division of Experimental Oncology, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy.

Gastroenterology Unit 1, Gastroenterological Hospital 'S. De Bellis' IRCCS, Castellana Grotte, BA, Italy.

出版信息

Dig Liver Dis. 2017 Aug;49(8):847-853. doi: 10.1016/j.dld.2017.04.023. Epub 2017 May 6.

DOI:10.1016/j.dld.2017.04.023

PMID:28546062

Abstract

BACKGROUND

SPINK1 p.N34S gene variation is one of the endogenous factors which seem to be associated with chronic pancreatitis (CP). However, in literature there is no clear agreement regarding its contribution in different ethnicity and CP etiologies.

AIM

To investigate the role of SPINK1 p.N34S gene variation in CP patients with European origin by means of meta-analysis.

METHODS

Literature search was conducted and case-control studies evaluating Caucasian population, published between May 2007 and May 2015, were included. We also included Caucasian selected studies analyzed in previous meta-analysis. We carried out meta-analysis including all selected studies. After that, we performed two additional meta-analyses considering the incidence of SPINK1 p.N34S gene variation in alcoholic or in idiopathic CP patients vs control group.

RESULTS

Twenty-five studies were included and the total number of subjects was 8800 (2981 cases and 5819 controls). The presence of p.N34S variation increased nine times the overall CP risk in population of European origin [OR 9.695 (CI 95% 7.931-11.851)]. Also, the contribution of SPINK1 in idiopathic pancreatitis [OR 13.640 (CI 95% 8.858-21.002)] was found to be higher than in alcoholic CP [5.283 (CI 95% 3.449-8.092)].

CONCLUSION

The association between SPINK1 p.N34S gene variation and CP is confirmed. Also, we confirmed that the idiopathic etiology needs a better definition by means of genetic analysis.

摘要

背景

丝氨酸蛋白酶抑制剂 Kazal 型 1（SPINK1）p.N34S 基因突变是与慢性胰腺炎（CP）相关的内源性因素之一。然而，文献中对于该基因变异在不同种族和 CP 病因学中的作用尚没有明确的共识。

目的

通过荟萃分析研究欧洲裔 CP 患者中 SPINK1 p.N34S 基因突变的作用。

方法

检索文献，纳入 2007 年 5 月至 2015 年 5 月发表的评估白种人群的病例对照研究。我们还纳入了以前荟萃分析中分析的白种人选择研究。我们进行了荟萃分析，纳入了所有选定的研究。之后，我们进行了两项额外的荟萃分析，分别考虑 SPINK1 p.N34S 基因突变在酒精性或特发性 CP 患者与对照组中的发生率。

结果

共纳入 25 项研究，总研究对象为 8800 例（2981 例病例和 5819 例对照）。在欧洲人群中，p.N34S 变异的存在使 CP 的总体风险增加了 9 倍[比值比（OR）9.695（95%可信区间[CI]：7.931-11.851）]。此外，还发现 SPINK1 在特发性胰腺炎中的作用[OR 13.640（95%CI：8.858-21.002）]高于在酒精性 CP 中的作用[5.283（95%CI：3.449-8.092）]。