A research team at Severance Hospital has found gene variants that lower cholesterol levels, the hospital said Tuesday.

Professor Lee Sang-hak

The study led by Lee Sang-hak from Severance Hospital’s cardiology department aimed to uncover what causes below-average cholesterol levels in Korean patients with extremely poor low-density lipoprotein-cholesterol (LDL-C) levels.

The researchers selected 22 people out of 13,000 patients who visited Severance Hospital from 2000 to 2011. The 22 chosen subjects were in the bottom 1 percentile for having the lowest LDL-C levels. Their mean LDL-C level was 39㎎/㎗, falling below the normal range of 100㎎/㎗.

The research examined two target genes involved in cholesterol metabolism and excretion – APOB and PCSK9 – with targeted next-generation sequencing to find the prevalence and characteristics of rare and common gene variants in the patients.

Results showed 21 out of 22 subjects had a gene mutation with nine subjects having eight rare variants of the two candidate genes (five in APOB and three in PCSK9). The study also uncovered nine novel mutations, notably discovering three types of PCSK9 variants previously not been reported in academia.

"The PCSK9 gene is known to significantly affect blood cholesterol levels, and new drugs targeting the protein have already been developed," Lee said.

“We hope that our identification of three PCSK9 gene variants will contribute to the expansion of research on the PCSK9 gene’s function and treatment of the genetic mutation.”

The research was published in a recent issue of PLoS One.

yjc@docdocdoc.co.kr

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