血脂异常表现为血浆中的胆固醇和（或）甘油三酯水平升高，可导致严重的心血管疾病，常以冠心病和脑卒中为首发表现，该类疾病严重危害人们身体健康。一些血脂异常疾病具有遗传性，包括孟德尔遗传和多基因遗传。近年来，新兴基因测序技术的兴起，以及血脂异常致病基因的发现和基因变异致病机制的阐明，为血脂异常疾病提供新治疗靶点，并为新一代药物研发提供新思路。EAS 2024大会上，本刊特邀巴黎城市大学医学院遗传学名誉教授Catherine Boileau就血脂异常的遗传学研究进行专访。

《国际循环》：从遗传学的角度，谈谈您对血脂异常的新见解？

Catherine Boileau教授：血脂异常是一组非常复杂的疾病，主要分为两组，但在数量上并不等同。有一些罕见疾病，这些罕见的形式在过去几年中已经被很好地识别出来。还有一些较为复杂的疾病，更常见的形式仍很难理解，因为它们是由一系列的基因串连起来。这也可能是因为环境的影响，我们现在对这些还没有全面的了解。

Dyslipidemia certainly is a very complex group of disorders, and there are two main groups, I think, which are not quantitatively equivalent.There are the rare diseases, the rare forms that have been very well identified these past years, and then there are the complex, more common forms that are still difficult to apprehend because they are, there's a whole series of genes that are implicated.There's an impact of the environment, and getting an overall picture of what is happening is still not there.

《国际循环》：目前，动脉粥样硬化的基因学研究有哪些进展?

Catherine Boileau教授：基因和动脉粥样硬化的相关性已经并存很多年。本人此次会议上发表的“血脂异常遗传学的新见解”报告，无疑是分析这些年来提供的所有基因研究结果的前进之路。我们还需要进行网络分析，这肯定会有助于动脉粥样硬化的基因学研究。

Genetics and atherosclerosis have been there together for many years.And I think the talk that was given this morning certainly is the way forward to analyze all the genetic results that have been provided through the years.And we need to get into network analysis that certainly will help.

《国际循环》：如何根据遗传学研究证据对血脂异常的患者进行个体化治疗和管理？

Catherine Boileau教授：最重要的事情是，研究需要从对家庭的彻底随访开始。首先，需要弄清楚患有血脂异常的患者是否会遗传。如果遗传，在这种情况下需要确认诊断。众所周知，对于遗传性疾病，每年的累积负担非常严峻，因此需要一个非常有效的治疗方法。当然，血脂异常的数字越低越好，但在多基因的形式中，情况并非如此。在生命后期，与环境，饮食习惯密切相关，在这种情况下，累积负担就显得并不那么重要。

I think the most important thing is that it's really, investigations need to be started by a thorough questioning about the family.You really need to figure out if the patient who comes in with dyslipidemia is an inherited form and or if it is not. If it is inherited, and then in that case, you want to confirm the diagnosis. But also we now know that for inherited forms, the burden, the yearly burden as it accumulates is very important, and we need to put in a very efficient therapy.

You want to get the numbers as low as possible.That's not always the case in the polygenic forms, the ones that appear later in life, which are very much related to the environment, to the eating habits, and in that case, the burden is not as important.

专家简介

Catherine Boileau

她是巴黎城市大学医学院遗传学名誉教授，巴黎比夏大学医院遗传学系前主任，医学博士。她在Inserm从事研究工作35余年。她的研究旨在通过与临床中心密切合作，结合遗传学，基因组学，细胞和动物生物学的策略了解遗传性心血管疾病的机制。这导致了重大的范式转变和家族性高胆固醇血症（特别是PCSK9）、马凡氏综合征和家族性胸主动脉瘤和夹层（特别是TGFBR2、TGFB2）的几种疾病基因的鉴定。她发表了300余篇国际出版物，于2018年获得法国勒福隆-德拉朗研究所基金会国际科学大奖，并于2019年获得贝莱-拉图尔基金（比利时）国际健康奖。她是法国荣誉骑士勋章。