Genetic Diagnosis via Whole Exome Sequencing in Taiwanese Patients with Hypertriglyceridemia

Chiou, Kuan Rau; Chen, Chung Yung; Charng, Min Ji

doi:10.5551/jat.29736

Cited by 6 publications

(6 citation statements)

References 42 publications

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“…Although the p.G185C variant located in the APOA5 gene was first reported in 2003, it has attracted great attention from researchers during the past years because its homozygous mutation contributes strongly to severe hypertriglyceridemia and resultant HTGAP . In particular, the p.G185C polymorphism in the APOA5 gene is more commonly distributed in Asians, including Chinese populations, than in others . It has been speculated that the functional mechanism of APOA5 can decrease the concentration of blood TG by increasing lipoprotein lipase activity .…”

Section: Discussionmentioning

confidence: 99%

Hypertriglyceridemic acute pancreatitis in emergency department: Typical clinical features and genetic variants

Chen

Sun

Zhang

et al. 2017

J of Digest Diseases

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OBJECTIVE:To investigate the clinical characteristics of patients with hypertriglyceridemic acute pancreatitis (HTGAP), and the molecular foundation contributing to hypertriglyceridemia in such patients. METHODS:Clinical data from 329 patients with acute pancreatitis (AP) were analyzed. The patients were divided into the HTGAP group, with fasting serum triglyceride (TG) levels ≥500 mg/dL (5.65 mmol/L), and the non-HTGAP (NHTGAP) group. Targeted next-generation sequencing was applied to 11 HTGAP patients to identify the genetic mutations associated with hypertriglyceridemia, including apolipoprotein A-V (APOA5), APOC2, APOC3 and APOE, BLK, LPL, GPIHBP1 and LMF1. RESULTS:Patients in the HTGAP group, compared with those in the NHTGAP group, had a higher mortality rate (7.5% vs 0.7%, P = 0.001), more commonly seen severe AP (17.5% vs 5.2%, P = 0.004) as well as a higher recurrence rate (32.4% vs 19.9%, P = 0.070). DNA sequencing showed that two patients carried the same compound of p.G185C and p.V153M heterozygous mutations located in the APOA5 gene. Two patients carried a homozygous variation of p.C14F, in the GPIHBP1 gene. One patient had a homozygous variation of p.R176C in the APOE gene. And a rare heterozygous LMF1 gene mutation of p.P562R was detected in two patients.CONCLUSIONS: HTGAP was significantly severe than NHTGAP, with a high recurrence rate. Genetic information may be useful in the clinical setting for the investigation of the pathogenesis of HTGAP and its interventions.

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Section: Discussionmentioning

confidence: 99%

Hypertriglyceridemic acute pancreatitis in emergency department: Typical clinical features and genetic variants

Chen

Sun

Zhang

et al. 2017

J of Digest Diseases

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“…24 APOA5 c.553G>T is common in the Chinese population [minor allele frequency (MAF) = ~4% 30,31 ] and other Asian populations [e.g., MAF of 6.8% in East Asians according to gnomAD (https://gnomad.broadinstitute.org/)], but it is very rare in European populations (MAF of 0.03% according to gnomAD). Importantly, the minor T allele of APOA5 rs2075291 has been firmly established as being associated with altered TG levels in normal controls and/or HTG patients in different Asian populations; [30][31][32][33][34][35][36][37][38][39][40][41][42][43] and its functionality and pathogenicity have been supported by different lines of experimental evidence. [44][45][46][47] Data on the role of APOA5 c.553G>T in HTG-AP unrelated to pregnancy are also scarce; this is reflected by the very limited number of patients so far analyzed for this variant [one in Arai et al…”

Section: Introductionmentioning

confidence: 99%

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

Yang

Shi

et al. 2020

Journal of Clinical Lipidology

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“… 1 Although previous studies have described genetic information of patients with very high TG, data from Asian countries are highly limited. 2 3 4 Particularly, the prevalence and characteristics of patients in Korea have not been analyzed before. The aim of this study was to investigate the prevalence and characteristics of variants of five lipolysis-related genes in Korean patients with very high TG.…”

mentioning

confidence: 99%

“…These two variants have been previously reported. c.G553T has been known to be associated with hypertriglyceridemia, 3 9 while c.G457A has been reported to be benign. 10 …”

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confidence: 99%

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Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

et al. 2018

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We investigated the prevalence and characteristics of variants of five lipolysis-related genes in Korean patients with very high triglycerides (TGs). Twenty-six patients with TG levels >885 mg/dL were selected from 13545 Korean subjects. Five candidate genes, LPL, APOC2, GPIHBP1, APOA5, and LMF1, were sequenced by targeted next-generation sequencing. Predictions of functional effects were performed and matched against public databases of variants. Ten rare variants of three genes were found in nine (34.6%) patients (three in LPL, four in APOA5, and three in LMF1). Five were novel and all variants were suspected of being disease-causing. Nine were heterozygous, and one (3.8%) had a homozygous rare variant of LPL. Six common variants of four genes were observed in 25 (96.2%) patients (one in LPL, one in GPIHBP1, two in APOA5, and two in LMF1). The c.G41T variant of GPIHBP1 and c.G533T variant of APOA5 were most frequent and found in 15 (57.7%) and 14 (53.8%) patients, respectively. Rare homozygous variants of the genes were very uncommon, while diverse rare heterozygous variants were commonly identified. Taken together, most study subjects may be manifesting the combined effects of rare heterozygous variants and common variants.

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Genetic Diagnosis via Whole Exome Sequencing in Taiwanese Patients with Hypertriglyceridemia

Cited by 6 publications

References 42 publications

Hypertriglyceridemic acute pancreatitis in emergency department: Typical clinical features and genetic variants

Hypertriglyceridemic acute pancreatitis in emergency department: Typical clinical features and genetic variants

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

Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

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