首页 中华肾脏病杂志 2016年32卷5期 载脂蛋白L1基因突变及其相关疾病的研究进展
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载脂蛋白L1基因突变及其相关疾病的研究进展
彭婷 
李贵森 
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·
DOI： 10.3760/cma.j.issn.1001-7097.2016.05.015
Advances in APOL1 gene mutations and their related diseases
Peng Ting
Li Guisen
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Peng Ting
Li Guisen
·
DOI： 10.3760/cma.j.issn.1001-7097.2016.05.015
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摘要
慢性肾脏病（chronic kidney disease，CKD）的发病率在全球范围内呈快速增长趋势，目前已成为全球性威胁健康的公共问题 [ 1 ] 。慢性肾脏疾病的发生和进展与遗传因素关系密切，寻找CKD的易感基因一直是学术界的研究热点。近年来的证据表明载脂蛋白L1（apolipoprotein L1，APOL1）基因一些变异会增加肾脏疾病的易感性，包括糖尿病肾病（diabetic kidney disease，DKD）、高血压肾病（hypertensive nephropathy，HTN）、人类免疫缺陷病毒相关肾病（human immunodeficiency virus associated nephropathy，HIVAN）、狼疮肾炎（lupus nephritis，LN）和局灶节段性肾小球硬化（focal segmental glomerular sclerosis，FSGS） [ 2 , 3 ] 。
引用本文
彭婷,李贵森. 载脂蛋白L1基因突变及其相关疾病的研究进展[J]. 中华肾脏病杂志,2016,32(5)：395-400.
DOI:10.3760/cma.j.issn.1001-7097.2016.05.015PERMISSIONS
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慢性肾脏病（chronic kidney disease，CKD）的发病率在全球范围内呈快速增长趋势，目前已成为全球性威胁健康的公共问题
[
1
]。慢性肾脏疾病的发生和进展与遗传因素关系密切，寻找CKD的易感基因一直是学术界的研究热点。近年来的证据表明载脂蛋白L1（apolipoprotein L1，APOL1）基因一些变异会增加肾脏疾病的易感性，包括糖尿病肾病（diabetic kidney disease，DKD）、高血压肾病（hypertensive nephropathy，HTN）、人类免疫缺陷病毒相关肾病（human immunodeficiency virus associated nephropathy，HIVAN）、狼疮肾炎（lupus nephritis，LN）和局灶节段性肾小球硬化（focal segmental glomerular sclerosis，FSGS）
[
2
,
3
]。
对FSGS的遗传背景研究表明，TRPC6、INF2、ACTN4、APOL1等基因突变可能参与FSGS的发病机制
[
4
]。而对我国终末期肾病（end stage renal disease，ESRD）患者进行APOL1等位突变基因G1和G2检测发现，汉族人群无这两种突变，提示我国肾脏病患者的突变情况不同。目前国内鲜有对APOL1在肾脏相关疾病方面的作用的研究，经检索，尚未见APOL1其他变异对肾脏疾病有确切影响的报道。我们课题组以FSGS家系及散发患者为对象，利用全外显子测序等方法，没有发现TRPC6、INF2、ACTN4等基因的已知突变
[
5
]。但在一对同卵双生的FSGS患者中同时发现了APOLl基因第五个外显子上存在新的错义突变（未发表），提示该新突变可能对FSGS有重要影响，故本文主要对APOL1基因变异与疾病的关系及可能的机制作一综述。
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备注信息
A
李贵森，Email：
mocdef.3ab61ilnesiug
B
国家重点基础研究发展计划"973"项目 (2012CB517604)
四川省青年科技创新研究团队项目 (2015TD0013)
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