Aotearoa New Zealand Māori and Pacific Population-amplified Gout Risk Variants:

Gene Frequency Glucose Transport Proteins, Facilitative / genetics Gout / genetics Humans Native Hawaiian or Other Pacific Islander / genetics New Zealand Polymorphism, Single Nucleotide
Māori Pacific Polynesian association gene gout

Journal

The Journal of rheumatology
ISSN: 0315-162X
Titre abrégé: J Rheumatol
Pays: Canada
ID NLM: 7501984

Informations de publication

Date de publication:
11 2021
Historique:
accepted: 11 06 2021
pubmed: 3 7 2021
medline: 4 11 2021
entrez: 2 7 2021
Statut: ppublish

Résumé

The Māori and Pacific (Polynesian) population of Aotearoa New Zealand has a high prevalence of gout. Our aim was to identify potentially functional missense genetic variants in candidate inflammatory genes amplified in frequency that may underlie the increased prevalence of gout in Polynesian populations. A list of 712 inflammatory disease-related genes was generated. An in silico targeted exome set was extracted from whole genome sequencing data in people with gout of various ancestral groups (Polynesian, European, East Asian; n = 55, 780, 135, respectively) to identify Polynesian-amplified common missense variants (minor allele frequency > 0.05). Candidate functional variants were tested for association with gout by multivariable-adjusted regression analysis in 2528 individuals of Polynesian ancestry. We identified 26 variants common in the Polynesian population and uncommon in the European and East Asian populations. Three of the 26 population-amplified variants were nominally associated with the risk of gout ( We provide nominal evidence for the existence of population-amplified genetic variants conferring risk of gout in Polynesian populations. Polymorphisms in

Identifiants

DOI: 10.3899/jrheum.201684 PMID: 34210831
pubmed: 34210831
pii: jrheum.201684
doi: 10.3899/jrheum.201684
doi:

Substances chimiques

Glucose Transport Proteins, Facilitative 0
SLC2A9 protein, human 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1736-1744

Informations de copyright

Copyright © 2021 by the Journal of Rheumatology.

Auteurs

Aichang Ji (A)

A. Ji, PhD, Research Fellow, C. Li, PhD, Professor, Shandong Provincial Key Laboratory of Metabolic Diseases, the Affiliated Hospital of Qingdao University, Qingdao, China.
ORCID: 0000-0002-3726-6844

Amara Shaukat (A)

A. Shaukat, MSc, Doctoral Student, M. Bixley, MSc, Assistant Research Fellow, M. Cadzow, PhD, Research Fellow, R.K. Topless, BSc, Assistant Research Fellow, T.J. Major, PhD, Research Fellow, A. Phipps-Green, MSc, Assistant Research Fellow, M.E. Merriman, BSc, Research Assistant, Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Riku Takei (R)

R. Takei, MSc, Scientist, Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, USA.
ORCID: 0000-0002-1243-2535

Matthew Bixley (M)

A. Shaukat, MSc, Doctoral Student, M. Bixley, MSc, Assistant Research Fellow, M. Cadzow, PhD, Research Fellow, R.K. Topless, BSc, Assistant Research Fellow, T.J. Major, PhD, Research Fellow, A. Phipps-Green, MSc, Assistant Research Fellow, M.E. Merriman, BSc, Research Assistant, Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Murray Cadzow (M)

A. Shaukat, MSc, Doctoral Student, M. Bixley, MSc, Assistant Research Fellow, M. Cadzow, PhD, Research Fellow, R.K. Topless, BSc, Assistant Research Fellow, T.J. Major, PhD, Research Fellow, A. Phipps-Green, MSc, Assistant Research Fellow, M.E. Merriman, BSc, Research Assistant, Department of Biochemistry, University of Otago, Dunedin, New Zealand.
ORCID: 0000-0002-2299-4136

Ruth K Topless (RK)

A. Shaukat, MSc, Doctoral Student, M. Bixley, MSc, Assistant Research Fellow, M. Cadzow, PhD, Research Fellow, R.K. Topless, BSc, Assistant Research Fellow, T.J. Major, PhD, Research Fellow, A. Phipps-Green, MSc, Assistant Research Fellow, M.E. Merriman, BSc, Research Assistant, Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Tanya J Major (TJ)

A. Shaukat, MSc, Doctoral Student, M. Bixley, MSc, Assistant Research Fellow, M. Cadzow, PhD, Research Fellow, R.K. Topless, BSc, Assistant Research Fellow, T.J. Major, PhD, Research Fellow, A. Phipps-Green, MSc, Assistant Research Fellow, M.E. Merriman, BSc, Research Assistant, Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Amanda Phipps-Green (A)

A. Shaukat, MSc, Doctoral Student, M. Bixley, MSc, Assistant Research Fellow, M. Cadzow, PhD, Research Fellow, R.K. Topless, BSc, Assistant Research Fellow, T.J. Major, PhD, Research Fellow, A. Phipps-Green, MSc, Assistant Research Fellow, M.E. Merriman, BSc, Research Assistant, Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Marilyn E Merriman (ME)

A. Shaukat, MSc, Doctoral Student, M. Bixley, MSc, Assistant Research Fellow, M. Cadzow, PhD, Research Fellow, R.K. Topless, BSc, Assistant Research Fellow, T.J. Major, PhD, Research Fellow, A. Phipps-Green, MSc, Assistant Research Fellow, M.E. Merriman, BSc, Research Assistant, Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Jennie Harré Hindmarsh (JH)

J. Harré Hindmarsh, PhD, Research Coordinator, Ngāti Porou Hauora Charitable Trust, Te Puia Springs, Tairāwhiti East Coast, New Zealand.

Lisa K Stamp (LK)

L.K. Stamp, PhD, Professor, Department of Medicine, University of Otago, Christchurch, New Zealand.

Nicola Dalbeth (N)

N. Dalbeth, MD, Professor, Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.

Changgui Li (C)

A. Ji, PhD, Research Fellow, C. Li, PhD, Professor, Shandong Provincial Key Laboratory of Metabolic Diseases, the Affiliated Hospital of Qingdao University, Qingdao, China.

Tony R Merriman (TR)

T.R. Merriman, BSc, Research Assistant, Shandong Provincial Key Laboratory of Metabolic Diseases, the Affiliated Hospital of Qingdao University, Qingdao, China, Department of Biochemistry, University of Otago, Dunedin, New Zealand, and Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, USA. A. Ji and A. Shaukat contributed equally to this work. tony.merriman@otago.ac.nz.
ORCID: 0000-0003-0844-8726

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Fréquence d'allèle › Aotearoa New Zealand Māori and Pacific...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Protéines transporteurs de solutés › Transporteurs de glucose par diffusion facilitée › Aotearoa New Zealand Māori and Pacific...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme de la purine et de la pyrimidine › Goutte › Aotearoa New Zealand Māori and Pacific...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Aotearoa New Zealand Māori and Pacific...
questionsmedicales.fr › Personnes › Populations d'Océanie › Populations d'Australasie › Population originaire des îles du Pacifique › Hawaïen autochtone ou autre insulaire du Pacifique › Aotearoa New Zealand Māori and Pacific...
questionsmedicales.fr › Régions géographiques › Océanie › Australasie › Nouvelle-Zélande › Aotearoa New Zealand Māori and Pacific...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Aotearoa New Zealand Māori and Pacific...