Microduplication of 10q26.3 in a Chinese hypertriglyceridemia patient

Hypertriglyceridemia (HTG) plays an important role in the development and progression of atherosclerosis. It is inherited in an autosomal dominant pattern with a frequency of approximately 1:1,000,000 worldwide. Previous study has demonstrated that more than six genes underlie this disorder. In addition, copy number variants (CNVs) including disease-causing genes also play a crucial role in it. In this study, we have employed SNP-ARRAY chip technology to detect the pathogenic CNVs in a HTG patient who carried no meaningful mutations in HTG candidate genes. And we identified a de novo CNV interstitial 134.7 kb duplication of chromosome region 10q26.3 containing CYP2E1. And this CNV also has been confirmed by Real-time PCR. CYP2E1 is a member of cytochrome P450 superfamily of enzymes which play an important role in fatty acid metabolism. Our study is consistent with previous research and further claimes that CNVs containing CYP2E1 may be related to HTG and obesity. Our study not only further confirmes the hypothesis that the CYP2E1 is a plausible candidate gene for HTG, but also may contribute to the diagnosis and treatment of these genomic diseases.