> Details

Selvaraj, Margaret Sunitha; Li, Xihao; Li, Zilin; Pampana, Akhil; Zhang, David Y.; Park, Joseph; Aslibekyan, Stella; Bis, Joshua C.; Brody, Jennifer A.; Cade, Brian E.; Chuang, Lee-Ming; Chung, Ren-Hua; Curran, Joanne E.; de las Fuentes, Lisa; de Vries, Paul S.; Duggirala, Ravindranath; Freedman, Barry I.; Graff, Mariaelisa; Guo, Xiuqing; Heard-Costa, Nancy; Hidalgo, Bertha; Hwu, Chii-Min; Irvin, Marguerite R.; Kelly, Tanika N.; [...]

Whole genome sequence analysis of blood lipid levels in 66,000 individuals

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  • Media type: E-Article
  • Title: Whole genome sequence analysis of blood lipid levels in 66,000 individuals
  • Contributor: Selvaraj, Margaret Sunitha; Li, Xihao; Li, Zilin; Pampana, Akhil; Zhang, David Y.; Park, Joseph; Aslibekyan, Stella; Bis, Joshua C.; Brody, Jennifer A.; Cade, Brian E.; Chuang, Lee-Ming; Chung, Ren-Hua; Curran, Joanne E.; de las Fuentes, Lisa; de Vries, Paul S.; Duggirala, Ravindranath; Freedman, Barry I.; Graff, Mariaelisa; Guo, Xiuqing; Heard-Costa, Nancy; Hidalgo, Bertha; Hwu, Chii-Min; Irvin, Marguerite R.; Kelly, Tanika N.; [...]
  • imprint: Springer Science and Business Media LLC, 2022
  • Published in: Nature Communications
  • Language: English
  • DOI: 10.1038/s41467-022-33510-7
  • ISSN: 2041-1723
  • Keywords: General Physics and Astronomy ; General Biochemistry, Genetics and Molecular Biology ; General Chemistry ; Multidisciplinary
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery of lipid-associated alleles using whole genome sequencing (WGS), partly due to limited sample sizes, ancestral diversity, and interpretation of clinical significance. Among 66,329 ancestrally diverse (56% non-European) participants, we associate 428M variants from deep-coverage WGS with lipid levels; ~400M variants were not assessed in prior lipids genetic analyses. We find multiple lipid-related genes strongly associated with blood lipids through analysis of common and rare coding variants. We discover several associated rare non-coding variants, largely at Mendelian lipid genes. Notably, we observe rare <jats:italic>LDLR</jats:italic> intronic variants associated with markedly increased LDL-C, similar to rare <jats:italic>LDLR</jats:italic> exonic variants. In conclusion, we conducted a systematic whole genome scan for blood lipids expanding the alleles linked to lipids for multiple ancestries and characterize a clinically-relevant rare non-coding variant model for lipids.</jats:p>
  • Access State: Open Access