A Polynesian-specific missense CETP variant alters the lipid profile

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

doi:10.1016/j.xhgg.2023.100204

A Polynesian-specific missense CETP variant alters the lipid profile

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 ReupenaSatupa'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

Biobehavioral Health

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

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.

Original language	English (US)
Article number	100204
Journal	Human Genetics and Genomics Advances
Volume	4
Issue number	3
DOIs	https://doi.org/10.1016/j.xhgg.2023.100204
State	Published - Jul 13 2023

All Science Journal Classification (ASJC) codes

Molecular Medicine
Genetics(clinical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.xhgg.2023.100204

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Moors, J., Krishnan, M., Sumpter, N., Takei, R., Bixley, M., Cadzow, M., Major, T. J., Phipps-Green, A., Topless, R., Merriman, M., Rutledge, M., Morgan, B., Carlson, J. C., Zhang, J. Z., Russell, E. M., Sun, G., Cheng, H., Weeks, D. E., Naseri, T., ... Leask, M. (2023). A Polynesian-specific missense CETP variant alters the lipid profile. Human Genetics and Genomics Advances, 4(3), Article 100204. https://doi.org/10.1016/j.xhgg.2023.100204

@article{ea60f6a5ca2847ffbfa4ec904f5d0b63,

title = "A Polynesian-specific missense CETP variant alters the lipid profile",

abstract = "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.",

author = "Jaye Moors and Mohanraj Krishnan and Nick Sumpter and Riku Takei and Matt Bixley and Murray Cadzow and Major, {Tanya J.} and Amanda Phipps-Green and Ruth Topless and Marilyn Merriman and Malcolm Rutledge and Ben Morgan and Carlson, {Jenna C.} and Zhang, {Jerry Z.} and Russell, {Emily M.} and Guangyun Sun and Hong Cheng and Weeks, {Daniel E.} and Take Naseri and Reupena, {Muagututi'a Sefuiva} and Satupa'itea Viali and John Tuitele and Hawley, {Nicola L.} and Ranjan Deka and McGarvey, {Stephen T.} and {de Zoysa}, Janak and Rinki Murphy and Nicola Dalbeth and Lisa Stamp and Mele Taumoepeau and Frances King and Phillip Wilcox and Nuku Rapana and Sally McCormick and Minster, {Ryan L.} and Merriman, {Tony R.} and Megan Leask",

note = "Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = jul,

day = "13",

doi = "10.1016/j.xhgg.2023.100204",

language = "English (US)",

volume = "4",

journal = "Human Genetics and Genomics Advances",

issn = "2666-2477",

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Moors, J, Krishnan, M, Sumpter, N, Takei, R, Bixley, M, Cadzow, M, Major, TJ, Phipps-Green, A, Topless, R, Merriman, M, Rutledge, M, Morgan, B, Carlson, JC, Zhang, JZ, Russell, EM, Sun, G, Cheng, H, Weeks, DE, Naseri, T, Reupena, MS, Viali, S, Tuitele, J, Hawley, NL, Deka, R, McGarvey, ST, de Zoysa, J, Murphy, R, Dalbeth, N, Stamp, L, Taumoepeau, M, King, F, Wilcox, P, Rapana, N, McCormick, S, Minster, RL, Merriman, TR & Leask, M 2023, 'A Polynesian-specific missense CETP variant alters the lipid profile', Human Genetics and Genomics Advances, vol. 4, no. 3, 100204. https://doi.org/10.1016/j.xhgg.2023.100204

TY - JOUR

T1 - A Polynesian-specific missense CETP variant alters the lipid profile

AU - Moors, Jaye

AU - Krishnan, Mohanraj

AU - Sumpter, Nick

AU - Takei, Riku

AU - Bixley, Matt

AU - Cadzow, Murray

AU - Major, Tanya J.

AU - Phipps-Green, Amanda

AU - Topless, Ruth

AU - Merriman, Marilyn

AU - Rutledge, Malcolm

AU - Morgan, Ben

AU - Carlson, Jenna C.

AU - Zhang, Jerry Z.

AU - Russell, Emily M.

AU - Sun, Guangyun

AU - Cheng, Hong

AU - Weeks, Daniel E.

AU - Naseri, Take

AU - Reupena, Muagututi'a Sefuiva

AU - Viali, Satupa'itea

AU - Tuitele, John

AU - Hawley, Nicola L.

AU - Deka, Ranjan

AU - McGarvey, Stephen T.

AU - de Zoysa, Janak

AU - Murphy, Rinki

AU - Dalbeth, Nicola

AU - Stamp, Lisa

AU - Taumoepeau, Mele

AU - King, Frances

AU - Wilcox, Phillip

AU - Rapana, Nuku

AU - McCormick, Sally

AU - Minster, Ryan L.

AU - Merriman, Tony R.

AU - Leask, Megan

PY - 2023/7/13

Y1 - 2023/7/13

N2 - 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.

AB - 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.

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U2 - 10.1016/j.xhgg.2023.100204

DO - 10.1016/j.xhgg.2023.100204

M3 - Article

C2 - 37250494

AN - SCOPUS:85162232337

SN - 2666-2477

VL - 4

JO - Human Genetics and Genomics Advances

JF - Human Genetics and Genomics Advances

IS - 3

M1 - 100204

ER -

A Polynesian-specific missense CETP variant alters the lipid profile

Abstract

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