A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia

Kao, Jau-Tsuen; Wen, Hui-Chin; Chien, Kuo–Liong; Hsu, Hey-Chi; Lin, Shi‐Ming

doi:10.1093/hmg/ddg255

Cited by 160 publications

(155 citation statements)

References 30 publications

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“…According to our WES findings, APOA5 C553G T (rs2075291) is a causative gene mutation. Additionally, in agreement with the findings of a previous report 40) , the prevalence of the TT genotype (rs2075291) is high in affected Taiwanese populations. According to the ExAC browser (http://exac.broadinstitute.org/), which contains exome sequence data for 61,486 individuals as a global "reference set," there are 26 individuals with homozygous mutations with rs2075291 (allele frequency: 0.00637).…”

Section: Discussionsupporting

confidence: 92%

“…In Taiwan, two haplotypes of APOA5 (rs662799 and rs2075291) have been found to be closely related to HTG 39) . Moreover, the TT genotype of rs2075291 in the Taiwanese population was reported to be associated with HTG by Kao J. et al In that report, the frequency of the TT genotype of rs2075291 was reported to be 8.7% in the HTG group 40) . Based on these previous studies, SNP rs2075291 (553G T) is closely associated with HTG.…”

Section: Discussionmentioning

confidence: 92%

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Genetic Diagnosis via Whole Exome Sequencing in Taiwanese Patients with Hypertriglyceridemia

Chiou¹,

Chen

Charng

2015

JAT

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Aim: Whole exome sequencing (WES) is a recently developed method for discovering rare mutations associated with hereditary disorders. However, the feasibility and utilization of this method in identifying familial hypertriglyceridemia is not well known. The purpose of the study was to identify the genetic locus that causes hypertriglyceridemia and assess its prevalence in Taiwanese subjects with hypertriglyceridemia. Methods: We performed WES among two individuals with hypertriglyceridemia and one control subject in an index family (22 members). Based on the WES findings, we extended the study to genotype 65 unrelated adult index patients with a fasting serum triglyceride level of 500 mg/dL and 125 normal controls using polymerase chain reaction.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 92%

Genetic Diagnosis via Whole Exome Sequencing in Taiwanese Patients with Hypertriglyceridemia

Chiou¹,

Chen

Charng

2015

JAT

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“…Another SNP, rs2075291 (553G4T), has also shown to be associated with elevated triglycerides in some Asian studies. [36][37][38][39][40][41] This SNP has a MAF of 2% in the HapMap Han Chinese population and 3.8% in Hong Kong Chinese without hyperlipidaemia. 41 The strong association of rs662799 with plasma triglycerides could not be due to rs2075291 in the Hong Kong Chinese population as the two SNPs are not in strong LD (r 2 ¼0.13) and the effect of rs2075291 on triglycerides in familial combined hyperlipidaemia is much weaker than that of rs662799.…”

Section: Discussionmentioning

confidence: 99%

A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese

et al. 2010

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Single nucleotide polymorphisms (SNPs) in the apolipoprotein A5 (APOA5) gene have been associated with hypertriglyceridaemia. We investigated which SNPs in the APOA5 gene were associated with triglyceride levels in two independent Chinese populations. In all, 1375 subjects in the Hong Kong Cardiovascular Risk Factor Prevalence Study were genotyped for five tagging SNPs chosen from HapMap. Replication was sought in 1996 subjects from the Guangzhou Biobank Cohort Study. Among the five SNPs, rs662799 (-1131T4C) was strongly related to log-transformed triglyceride levels among Hong Kong subjects (b¼0.192, P¼2.6Â10 À13 ). Plasma triglyceride level was 36.1% higher in CC compared to TT genotype. This association was confirmed in Guangzhou subjects (b¼0.159, P¼1.3Â10 À12 ), and was significantly irrespective of sex, age group, obesity, metabolic syndrome, hypertension, diabetes, smoking and alcohol drinking. The odds ratios and 95% confidence interval for plasma triglycerides Z1.7 mmol/l associated with TC and CC genotypes were, respectively, 1.81 (1.37-2.39) and 2.22 (1.44-3.43) in Hong Kong and 1.27 (1.05-1.54) and 1.97 (1.42-2.73) in Guangzhou. Haplotype analysis suggested the association was due to rs662799 only. The corroborative findings in two independent populations indicate that the APOA5-1131T4C polymorphism is an important and clinically relevant determinant of plasma triglyceride levels in the Chinese population.

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“…DNA from patients and control subjects was extracted using the "G-spin™ Total DNA Extraction Kit" (iNtRON Biotechnology, Inc, South Korea). According to previous published protocols (Table 1), SNPs in APOA5 were genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) using the "Maxine PCR PreMixKit" (iNtRON Biotechnology, Inc, South Korea) [18,19].…”

Section: Genotyping Of Snpsmentioning

confidence: 99%

Association of Apolipoprotein A-V Gene Polymorphisms and Lipid Metabolism in Mongolian Patients with Metabolic Syndrome

Chuluun-Erdene,

Dagdan,

Sengeragchaa

et al. 2017

Cent. Asian j. Med. Sci.

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Objectives: Our study determined the genetic effect of Apolipoprotein A-V (APOA5) gene polymorphisms on lipid parameters in patients with metabolic syndrome (MetS). Methods: 160 patients with MetS and 144 healthy individuals were selected for the case and control groups, respectively. APOA5 gene polymorphisms (-1131T>C, IVS3+476G>A, c.1177C>T, c.1259T>C) were genotyped using PCR-RFLP. Results: Serum levels of total cholesterol and triglyceride were higher in the MetS group than the control group (p=0.028, p<0.001), while high density lipoprotein levels was lower in the MetS group than the control group (p=0.048). The -1131C allele frequency was higher in the MetS group than the control group (p=0.048). Results of regression analysis showed that APOA5−1131C carriers had increased incidences of MetS (OR=1.87, p=0.010). The frequency of the haplotype C-A-T-C was higher in the MetS group than the control group (p=0.027). In the MetS group, the triglyceride level was significantly higher in the minor allele carriers of -1131T>C, IVS3+476G>A, c.1177C>T. Conclusion: Our results suggest that, among the APOA5 SNPs, the C allele of -1131T>C polymorphism is a risk factor for MetS.

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A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia

Cited by 160 publications

References 30 publications

Genetic Diagnosis via Whole Exome Sequencing in Taiwanese Patients with Hypertriglyceridemia

Genetic Diagnosis via Whole Exome Sequencing in Taiwanese Patients with Hypertriglyceridemia

A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese

Association of Apolipoprotein A-V Gene Polymorphisms and Lipid Metabolism in Mongolian Patients with Metabolic Syndrome

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