A Polynesian-specific copy number variant encompassing the MICA gene associates with gout.

Humans DNA Copy Number Variations Genotype Gout / ethnology Histocompatibility Antigens Class I / genetics HLA Antigens Native Hawaiian or Other Pacific Islander / genetics

Journal

Human molecular genetics
ISSN: 1460-2083
Titre abrégé: Hum Mol Genet
Pays: England
ID NLM: 9208958

Informations de publication

Date de publication:
28 10 2022
Historique:
received: 16 01 2022
revised: 01 04 2022
accepted: 19 04 2022
pubmed: 23 4 2022
medline: 2 11 2022
entrez: 22 4 2022
Statut: ppublish

Résumé

Gout is of particularly high prevalence in the Māori and Pacific (Polynesian) populations of Aotearoa New Zealand (NZ). Here, we investigated the contribution of common population-specific copy number variation (CNV) to gout in the Aotearoa NZ Polynesian population. Microarray-generated genome-wide genotype data from Aotearoa NZ Polynesian individuals with (n = 1196) and without (n = 1249) gout were analyzed. Comparator population groups were 552 individuals of European ancestry and 1962 of Han Chinese ancestry. Levels of circulating major histocompatibility complex (MHC) class I polypeptide-related sequence A (MICA) were measured by enzyme-linked immunosorbent assay. Fifty-four CNV regions (CNVRs) appearing in at least 10 individuals were detected, of which seven common (>2%) CNVRs were specific to or amplified in Polynesian people. A burden test of these seven revealed associations of insertion/deletion with gout (odds ratio (OR) 95% confidence interval [CI] = 1.80 [1.01; 3.22], P = 0.046). Individually testing of the seven CNVRs for association with gout revealed nominal association of CNVR1 with gout in Western Polynesian (Chr6: 31.36-31.45 Mb, OR = 1.72 [1.03; 2.92], P = 0.04), CNVR6 in the meta-analyzed Polynesian sample sets (Chr1: 196.75-196.92 Mb, OR = 1.86 [1.16; 3.00], P = 0.01) and CNVR9 in Western Polynesian (Chr1: 189.35-189.54 Mb, OR = 2.75 [1.15; 7.13], P = 0.03). Analysis of European gout genetic association data demonstrated a signal of association at the CNVR1 locus that was an expression quantitative trait locus for MICA. The most common CNVR (CNVR1) includes deletion of the MICA gene, encoding an immunomodulatory protein. Expression of MICA was reduced in the serum of individuals with the deletion. In summary, we provide evidence for the association of CNVR1 containing MICA with gout in Polynesian people, implicating class I MHC-mediated antigen presentation in gout.

Identifiants

DOI: 10.1093/hmg/ddac094 PMID: 35451026 PMC: PMC9616569
pubmed: 35451026
pii: 6572162
doi: 10.1093/hmg/ddac094
pmc: PMC9616569
doi:

Substances chimiques

Histocompatibility Antigens Class I 0
HLA Antigens 0
MHC class I-related chain A 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

3757-3768

Informations de copyright

© The Author(s) 2022. Published by Oxford University Press.

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Auteurs

Ke Wang (K)

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, People's Republic of China.
Department of Biochemistry, University of Otago, Dunedin 9054, New Zealand.

Murray Cadzow (M)

Department of Biochemistry, University of Otago, Dunedin 9054, New Zealand.

Matt Bixley (M)

Department of Biochemistry, University of Otago, Dunedin 9054, New Zealand.

Megan P Leask (MP)

Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.

Marilyn E Merriman (ME)

Department of Biochemistry, University of Otago, Dunedin 9054, New Zealand.

Qiangzhen Yang (Q)

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, People's Republic of China.

Zhiqiang Li (Z)

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, People's Republic of China.
Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao 266003, China.

Riku Takei (R)

Department of Biochemistry, University of Otago, Dunedin 9054, New Zealand.
Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.

Amanda Phipps-Green (A)

Department of Biochemistry, University of Otago, Dunedin 9054, New Zealand.

Tanya J Major (TJ)

Department of Biochemistry, University of Otago, Dunedin 9054, New Zealand.

Ruth Topless (R)

Department of Biochemistry, University of Otago, Dunedin 9054, New Zealand.

Nicola Dalbeth (N)

Department of Medicine, University of Auckland, Auckland 1023, New Zealand.

Frances King (F)

Ngati Porou Hauora Charitable Trust, Te Puia Springs, New Zealand.

Rinki Murphy (R)

Department of Medicine, University of Auckland, Auckland 1023, New Zealand.

Lisa K Stamp (LK)

Department of Medicine, University of Otago, Christchurch 8013, New Zealand.

Janak de Zoysa (J)

Department of Medicine, University of Auckland, Auckland 1023, New Zealand.

Zhuo Wang (Z)

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, People's Republic of China.

Yongyong Shi (Y)

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, People's Republic of China.
Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes), Qingdao University, Qingdao 266003, China.

Tony R Merriman (TR)

Department of Biochemistry, University of Otago, Dunedin 9054, New Zealand.
Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
ORCID: 0000-0003-0844-8726

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Polynesian-specific copy number variant...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › A Polynesian-specific copy number variant...
questionsmedicales.fr › Phénomènes génétiques › Génotype › A Polynesian-specific copy number variant...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme de la purine et de la pyrimidine › Goutte › A Polynesian-specific copy number variant...
questionsmedicales.fr › Facteurs biologiques › Antigènes › Isoantigènes › Antigènes d'histocompatibilité › Antigènes d'histocompatibilité de classe I › A Polynesian-specific copy number variant...
questionsmedicales.fr › Facteurs biologiques › Antigènes › Isoantigènes › Antigènes d'histocompatibilité › Antigènes HLA › A Polynesian-specific copy number variant...
questionsmedicales.fr › Personnes › Populations d'Océanie › Populations d'Australasie › Population originaire des îles du Pacifique › Hawaïen autochtone ou autre insulaire du Pacifique › A Polynesian-specific copy number variant...