Genetics of Kidney Disease: The Unexpected Role of Rare Disorders

被引：8

作者：

Elliott, Mark D. ^{[1
,2
,3
]}

Rasouly, Hila Milo ^{[1
,2
]}

Gharavi, Ali G. ^{[1
,2
,3
]}

机构：

[1] Columbia Univ, Dept Med, Div Nephrol, Vagelos Coll Phys & Surg, New York, NY 10032 USA

[2] Columbia Univ, Ctr Precis Med & Genom, Dept Med, Vagelos Coll Phys & Surg, New York, NY 10032 USA

[3] Columbia Univ, Inst Genom Med, Vagelos Coll Phys & Surg, New York, NY 10032 USA

来源：

ANNUAL REVIEW OF MEDICINE | 2023年 / 74卷

基金：

美国国家卫生研究院;

关键词：

genetic kidney disease; collapsing analysis; precision medicine; massively parallel sequencing; genomics; chronic kidney disease; REPLACEMENT THERAPY; MUTATIONS; IDENTIFICATION; PROTECTION; PARADIGM; VARIANT; FAMILY; COHORT; GENES;

D O I：

10.1146/annurev-med-042921-101813

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Hundreds of different genetic causes of chronic kidney disease are now recognized, and while individually rare, taken together they are significant contributors to both adult and pediatric diseases. Traditional genetics approaches relied heavily on the identification of large families with multiple affected members and have been fundamental to the identification of genetic kidney diseases. With the increased utilization of massively parallel sequencing and improvements to genotype imputation, we can analyze rare variants in large cohorts of unrelated individuals, leading to personalized care for patients and significant research advancements. This review evaluates the contribution of rare disorders to patient care and the study of genetic kidney diseases and highlights key advancements that utilize new techniques to improve our ability to identify new gene-disease associations.

引用

页码：353 / 367

页数：15

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