| Autor: |
Jaye Moors, Mohanraj Krishnan, Nick Sumpter, Riku Takei, Matt Bixley, Murray Cadzow, Tanya J. Major, Amanda Phipps-Green, Ruth Topless, Marilyn Merriman, Malcolm Rutledge, Ben Morgan, Jenna C. Carlson, Jerry Z. Zhang, Emily M. Russell, Guangyun Sun, Hong Cheng, Daniel E. Weeks, Take Naseri, Muagututi’a Sefuiva Reupena, Satupa’itea Viali, John Tuitele, Nicola L. Hawley, Ranjan Deka, Stephen T. McGarvey, Janak de Zoysa, Rinki Murphy, Nicola Dalbeth, Lisa Stamp, Mele Taumoepeau, Frances King, Phillip Wilcox, Nuku Rapana, Sally McCormick, Ryan L. Minster, Tony R. Merriman, Megan Leask |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
HGG Advances, Vol 4, Iss 3, Pp 100204- (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2666-2477 |
| DOI: |
10.1016/j.xhgg.2023.100204 |
| Popis: |
Summary: Identifying population-specific genetic variants associated with disease and disease-predisposing traits is important to provide insights into the genetic determinants of health and disease between populations, as well as furthering genomic justice. Various common pan-population polymorphisms at CETP associate with serum lipid profiles and cardiovascular disease. Here, sequencing of CETP identified a missense variant rs1597000001 (p.Pro177Leu) specific to Māori and Pacific people that associates with higher HDL-C and lower LDL-C levels. Each copy of the minor allele associated with higher HDL-C by 0.236 mmol/L and lower LDL-C by 0.133 mmol/L. The rs1597000001 effect on HDL-C is comparable with CETP Mendelian loss-of-function mutations that result in CETP deficiency, consistent with our data, which shows that rs1597000001 lowers CETP activity by 27.9%. This study highlights the potential of population-specific genetic analyses for improving equity in genomics and health outcomes for population groups underrepresented in genomic studies. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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