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Gene-environment interaction between APOA5 c.553G>T and pregnancy in hypertriglyceridemia-induced acute pancreatitis

Pu, Na, Yang, Qi, Shi, Xiao-Lei, Chen, Wei-Wei, Li, Xiao-Yao, Zhang, Guo-Fu, Li, Gang, Li, Bai-Qiang, Ke, Lu, Tong, Zhi-Hui, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Chen, Jian-Min, Li, Wei-Qin and Li, Jie-Shou 2020. Gene-environment interaction between APOA5 c.553G>T and pregnancy in hypertriglyceridemia-induced acute pancreatitis. Journal of Clinical Lipidology 14 (4) 10.1016/j.jacl.2020.05.003

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Abstract

Background The etiology of hypertriglyceridemia (HTG) and, consequently, HTG-induced acute pancreatitis (HTG-AP), is complex. Objective Herein, we explore a possible gene–environment interaction between APOA5 c.553G>T (p.185Gly>Cys, rs2075291), a common variant associated with altered triglyceride levels, and pregnancy in HTG-AP. Methods We enrolled 318 Chinese HTG-AP patients and divided them into 3 distinct groups: Group 1, male patients (n = 183); Group 2, female patients whose disease was unrelated to pregnancy (n = 105); and Group 3, female patients whose disease was related to pregnancy (n = 30). APOA5 rs2075291 genotype status was determined by Sanger sequencing. A total of 362 healthy Han Chinese subjects were used as controls. Data on body mass index, peak triglyceride level, age of disease onset, episode number, and clinical severity of HTG-AP were collected from each patient. Multiple comparisons, between patient groups, between patient groups and controls, or within each patient group, were performed. Results A robust association of APOA5 rs2075291 with HTG-AP in general, and HTG-AP during pregnancy in particular, was demonstrated. The minor T allele showed a stronger association with Group 3 patients than with either Group 1 or Group 2 patients. This stronger association was due mainly to the much higher frequency of TT genotype in Group 3 patients (20%) than that (<6%) in Group 1 and Group 2 patients. Moreover, the TT genotype was associated with a significantly higher peak triglyceride level in Group 3 patients compared with the GG genotype. Conclusion Our findings provide evidence for an interaction between APOA5 rs2075291 and pregnancy in HTG-AP.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Elsevier
ISSN: 1933-2874
Date of First Compliant Deposit: 18 August 2020
Date of Acceptance: 13 May 2020
Last Modified: 08 Nov 2023 02:55
URI: https://orca.cardiff.ac.uk/id/eprint/134277

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