Genetic diagnosis via whole exome sequencing in Taiwanese patients with hypertriglyceridemia

Kuan Rau Chiou, Chung Yung Chen, Min Ji Charng

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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. Results: Using WES alignment, variant calling and annotation, 15 presumptive causal variants were initially identified, including 13 cases by the autosomal dominant model and two cases by the autosomal recessive model. Only APOA5 c.553 G>T (rs2075291), resulting in the amino acid mutation Gly185Cys, co-segregated well with hypertriglyceridemia in terms of autosomal recessive inheritance (homozygote TT: mean triglyceride level: 1,071 mg/dL vs non TT (GT and GG): mean triglyceride level: 118 mg/dL; p<0.001) in the index family. In the unrelated cohorts, the frequency of the TT genotype of rs2075291 was 12.3% in the hypertriglyceridemic group; however, no TT genotype was found in the control group. Conclusions: Our results demonstrate that WES is feasible for identifying the genetic locus that causes hypertriglyceridemia. The TT genotype of APOA5 c.553G>T acts as an important indicator of hypertriglyceridemia in patients in Taiwan.

Original languageEnglish
Pages (from-to)887-900
Number of pages14
JournalJournal of Atherosclerosis and Thrombosis
Issue number9
Publication statusPublished - Sept 18 2015
Externally publishedYes


  • Apolipoprotein A5
  • Chinese
  • Exome sequencing
  • Taiwanese
  • Triglycerides

ASJC Scopus subject areas

  • Internal Medicine
  • Cardiology and Cardiovascular Medicine
  • Biochemistry, medical


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