Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking
LIPIDS IN HEALTH AND DISEASE
Authors: Chen, Wei-Wei; Yang, Qi; Li, Xiao-Yao; Shi, Xiao-Lei; Pu, Na; Lu, Guo-Tao; Tong, Zhi-Hui; Chen, Jian-Min; Li, Wei-Qin
Abstract
Background: Hypertriglyceridemia (HTG) is one of the most common etiologies of acute pancreatitis (AP). Variants in five genes involved in the regulation of plasma lipid metabolism, namely LPL, APOA5, APOC2, GPIHBP1 and LMF1, have been frequently reported to cause or predispose to HTG. Methods: A Han Chinese patient with HTG-induced AP was assessed for genetic variants by Sanger sequencing of the entire coding and flanking sequences of the above five genes. Results: The patient was a 32-year-old man with severe obesity (Body Mass Index = 35) and heavy smoking (ten cigarettes per day for more than ten years). At the onset of AP, his serum triglyceride concentration was elevated to 1450.52 mg/dL. We sequenced the entire coding and flanking sequences of the LPL, APOC2, APOA5, GBIHBP1 and LMF1 genes in the patient. We found no putative deleterious variants, with the exception of a novel and heterozygous nonsense variant, c.1024C > T (p.Arg342*; rs776584760), in exon 7 of the LMF1 gene. Conclusions: This is the first time that a heterozygous LMF1 nonsense variant was found in a HTG-AP patient with severe obesity and heavy smoking, highlighting an important interplay between genetic and lifestyle factors in the etiology of HTG.
Absence of Association between-1131T > C Polymorphism in the Apolipoprotein APOA5 Gene and Pediatric Metabolic Syndrome
IRANIAN JOURNAL OF PEDIATRICS
Authors: Fatemi, Sayedeh Ghazaleh; Emadi-Baygi, Modjtaba; Nikpour, Parvaneh; Kelishadi, Roya; Hashemipour, Mahin
Abstract
Objective: In the present study, we evaluated the association of rs662799 variant of the APOA5 gene with Metabolic syndrome (MetS) in a sample of children and adolescents from Isfahan. Methods: This case control study comprised 50 cases of MetS and 50 controls. Mismatched polymerase chain reaction-restriction fragment length polymorphism (mPCR-RFLP) was used to genotype -1131T>C polymorphism. Findings: No significant association was documented for APOA5 genotypes with the measured laboratory parameters for CC, CT, and TT genotypes in the two groups studied. By logistic regression using a dominant model, the odds ratio (95% confidence intervalo for the MetS was 0.38 (0.139-1.0350 and 0.29 (0.08-1.071 for the unadjusted and adjusted models, respectively. Conclusion: This study suggests that among studied children and adolescents, -1131T>C polymorphism in the APOA5 gene may not be a major contributor to the MetS risk.
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