Exome-wide association study of blood lipids in 1,158,017 individuals from diverse populations.

doi:10.1038/s41588-026-02613-y

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Article

Exome-wide association study of blood lipids in 1,158,017 individuals from diverse populations.

Nature genetics - 1 Jun 2026

Koyama Satoshi, Yu Zhi, Choi Seung Hoan, Jurgens Sean J, Selvaraj Margaret Sunitha, Klarin Derek, Huffman Jennifer E, Clarke Shoa L, Zhang Selena K, Trinh Michael N, Ravi Akshaya, Dron Jacqueline S, Spinks Catherine, Surakka Ida, Bhatnagar Aarushi, Lannery Kim, Hornsby Whitney, Damrauer Scott M, Chang Kyong-Mi, Lynch Julie A, Assimes Themistocles L, Tsao Philip S, Rader Daniel J, Cho Kelly, Peloso Gina M, Ellinor Patrick T, Sun Yan V, Wilson Peter W F, Natarajan Pradeep

Abstract excerpt

Rare coding alleles have crucial roles in the molecular diagnosis of genetic diseases. However, the systematic identification of these alleles has been challenging due to their scarcity in the general population. Here we discovered and characterized rare coding alleles contributing to genetic dyslipidemia, a principal risk for coronary artery disease (CAD), among 1,158,017 multi-ancestral individuals. Testing...

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Identifiers

PMID: 42185625
DOI: 10.1038/s41588-026-02613-y
PMCID: PMC13263153

Genes

CAD
RORC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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