Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan

Current genome-wide association studies (GWAS) for kidney function lack ancestral diversity, limiting the applicability to broader populations. The East-Asian population is especially under-represented, despite having the highest global burden of end-stage kidney disease. We conducted a meta-analysi...

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Vydáno v:	Nature communications Ročník 15; číslo 1; s. 9317 - 16
Hlavní autoři:	Chen, Hung-Lin, Chiang, Hsiu-Yin, Chang, David Ray, Cheng, Chi-Fung, Wang, Charles C. N., Lu, Tzu-Pin, Lee, Chien-Yueh, Chattopadhyay, Amrita, Lin, Yu-Ting, Lin, Che-Chen, Yu, Pei-Tzu, Huang, Chien-Fong, Lin, Chieh-Hua, Yeh, Hung-Chieh, Ting, I-Wen, Tsai, Huai-Kuang, Chuang, Eric Y., Tin, Adrienne, Tsai, Fuu-Jen, Kuo, Chin-Chi
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London Nature Publishing Group UK 29.10.2024 Nature Publishing Group Nature Portfolio
Témata:	45/43 631/208/205/2138 692/4022/1585/104/1586 Adult Aged ATP Binding Cassette Transporter, Subfamily G, Member 2 - genetics Coagulation East Asian People - genetics End-stage renal disease Female Genetic diversity Genetic Predisposition to Disease Genome-wide association studies Genome-Wide Association Study Glomerular Filtration Rate Humanities and Social Sciences Humans Japan - epidemiology Kidney - physiopathology Kidney diseases Kidneys Male Middle Aged Missense mutation multidisciplinary Multifactorial Inheritance Mutation, Missense Neoplasm Proteins - genetics Polymorphism, Single Nucleotide Population genetics Population studies Populations Renal Insufficiency, Chronic - epidemiology Renal Insufficiency, Chronic - genetics Risk Risk Factors Science Science (multidisciplinary) Single-nucleotide polymorphism Taiwan - epidemiology Uric acid Japan Taiwan
ISSN:	2041-1723, 2041-1723
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Popis
Shrnutí:	Current genome-wide association studies (GWAS) for kidney function lack ancestral diversity, limiting the applicability to broader populations. The East-Asian population is especially under-represented, despite having the highest global burden of end-stage kidney disease. We conducted a meta-analysis of multiple GWASs ( n = 244,952) on estimated glomerular filtration rate and a replication dataset ( n = 27,058) from Taiwan and Japan. This study identified 111 lead SNPs in 97 genomic risk loci. Functional enrichment analyses revealed that variants associated with F12 gene and a missense mutation in ABCG2 may contribute to chronic kidney disease (CKD) through influencing inflammation, coagulation, and urate metabolism pathways. In independent cohorts from Taiwan ( n = 25,345) and the United Kingdom ( n = 260,245), polygenic risk scores (PRSs) for CKD significantly stratified the risk of CKD ( p < 0.0001). Further research is required to evaluate the clinical effectiveness of PRS CKD in the early prevention of kidney disease. Here the authors present a large genetic study in East Asians that identifies 97 genetic regions linked to kidney function. These findings aim at better understanding chronic kidney disease in diverse populations.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ISSN:	2041-1723 2041-1723
DOI:	10.1038/s41467-024-53516-7