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Genetic contributions to female gout and hyperuricaemia using genome-wide association study and polygenic risk score analyses.
Lin, Chien-Yu; Chang, Ya-Sian; Liu, Ting-Yuan; Huang, Chung-Ming; Chung, Chin-Chun; Chen, Yu-Chia; Tsai, Fuu-Jen; Chang, Jan-Gowth; Chang, Shun-Jen.
Afiliación
  • Lin CY; Graduate Institute of Clinical Medical Sciences, School of Medicine, China Medical University, Taichung.
  • Chang YS; Division of Laboratory Medicine, China Medical University Hsinchu Hospital, Zhubei City.
  • Liu TY; Center for Precision Medicine and Epigenome Research Center, China Medical University Hospital.
  • Huang CM; Graduate Institute of Integrated Medicine, College of Medicine.
  • Chung CC; Center for Precision Medicine and Epigenome Research Center, China Medical University Hospital.
  • Chen YC; Center for Precision Medicine and Epigenome Research Center, China Medical University Hospital.
  • Tsai FJ; Division of Immunology and Rheumatology, Department of Internal Medicine.
  • Chang JG; Center for Precision Medicine and Epigenome Research Center, China Medical University Hospital.
  • Chang SJ; Graduate Institute of Integrated Medicine, College of Medicine.
Rheumatology (Oxford) ; 62(2): 638-646, 2023 02 01.
Article en En | MEDLINE | ID: mdl-35758599
ABSTRACT

OBJECTIVES:

To identify genetic variants and polygenic risk score (PRS) relating to female gout and asymptomatic hyperuricaemia (AH) in a genome-wide association study (GWAS).

METHODS:

Gout, AH and normouricemia controls were included from Taiwan biobank and China Medical University Hospital. All participants were divided into discovery and replication cohorts for GWAS. PRS was estimated according to whether the variant exhibited a protective effect on the phenotypes or not. Each cohort was separated into two groups by the age of 50 years old.

RESULTS:

A total of 59 472 females were enrolled, and gout and AH occupied 1.60% and 19.59%, respectively. Six variants located in genes SLC2A9, C5orf22, CNTNAP2 and GLRX5 were significantly predictors of female gout in those aged ≥50. For those aged <50 years old, only the variant rs147750368 (SPANXN1) on chromosome X was found. Most variants located in genes SLC2A9, ZNF518B, PKD2 and ABCG2 were found to be significantly related to AH in both age groups. The PRS could explain ∼0.59% to 0.89% of variance of gout in variants with protective effects, which showed 6.2 times of mean PRS in the risk variants, but only 1.2 times in the AH phenotype. Moreover, the PRS also revealed a dose-response trend between AH rates and quartile scores.

CONCLUSION:

The variants in gene SLC2A9 are the major genetic factors for females associated with gout in those aged ≥50. PRS can provide a more robust prediction of the gout/AH under a homogeneous selection of variants that show effects on the traits.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperuricemia / Gota Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Rheumatology (Oxford) Asunto de la revista: REUMATOLOGIA Año: 2023 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperuricemia / Gota Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Rheumatology (Oxford) Asunto de la revista: REUMATOLOGIA Año: 2023 Tipo del documento: Article