Research press release


Nature Communications

Genetics: A genetic variant for healthier lipids



今回、UK10KコンソーシアムのNicole Soranzoたちは、低い血漿トリグリセリド濃度と関連するAPOC3遺伝子の多様体を同定し、この多様体を有する人々が、英国の人口の約0.25%に相当する約16万人であることを明らかにした。また、この多様体は、超低密度リポタンパク質(いわゆる「悪玉コレステロール」)の濃度が低い状態と高密度リポタンパク質(いわゆる「善玉コレステロール」)の濃度が高い状態とも関連していることも明らかになった。この多様体の存在により、心血管疾患の全体的なリスクが下がると推測されている。

A rare, high-impact genetic variant associated with a substantially lower plasma triglyceride level is reported online in Nature Communications this week. Plasma triglyceride level is a well-established risk factor for cardiovascular disease. This low-frequency, high-impact variant is one of the first of its kind to be identified using whole-genome sequencing of large populations of individuals.

Although genetic factors are known to play an important role in determining an individual’s cardiovascular disease risk, most factors identified so far are relatively common and account for only a small amount of the variation in the risk of developing the disease. It is hoped that whole-genome, large population studies will identify less common variants that have a bigger effect on disease risk.

Nicole Soranzo and colleagues at the UK10K Consortium find that around 0.25% of the UK population - approximately 160,000 people - are likely to carry a version of the APOC3 gene, which they find is associated with lower levels of plasma triglyceride. They also report that the variant is associated with lower levels of very-low-density lipoprotein (so-called “bad cholesterol”), and higher levels of high-density lipoprotein (so-called “good cholesterol”). These changes would be expected to result in a lower overall risk of cardiovascular disease.

doi: 10.1038/ncomms5871

「Nature 関連誌注目のハイライト」は、ネイチャー広報部門が報道関係者向けに作成したリリースを翻訳したものです。より正確かつ詳細な情報が必要な場合には、必ず原著論文をご覧ください。

メールマガジンリストの「Nature 関連誌今週のハイライト」にチェックをいれていただきますと、毎週最新のNature 関連誌のハイライトを皆様にお届けいたします。