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Novel loci linked to serum lipid traits are identified in a genome-wide association study of a highly admixed Brazilian population - the 2015 ISA Nutrition.
Leite, Jean Michel R S; Pereira, Jaqueline L; Alves de Souza, Camila; Pavan Soler, Júlia M; Mingroni-Netto, Regina Célia; Fisberg, Regina M; Rogero, Marcelo M; Sarti, Flavia M.
Afiliación
  • Leite JMRS; School of Public Health, University of São Paulo, São Paulo, Brazil.
  • Pereira JL; School of Public Health, University of São Paulo, São Paulo, Brazil.
  • Alves de Souza C; Institute of Mathematics and Statistics, University of São Paulo, São Paulo, Brazil.
  • Pavan Soler JM; Institute of Mathematics and Statistics, University of São Paulo, São Paulo, Brazil.
  • Mingroni-Netto RC; Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
  • Fisberg RM; School of Public Health, University of São Paulo, São Paulo, Brazil.
  • Rogero MM; School of Public Health, University of São Paulo, São Paulo, Brazil.
  • Sarti FM; School of Arts, Sciences and Humanities, University of São Paulo, São Paulo, Brazil. flamori@usp.br.
Lipids Health Dis ; 23(1): 229, 2024 Jul 26.
Article en En | MEDLINE | ID: mdl-39060932
ABSTRACT

BACKGROUND:

Cardiovascular diseases (CVDs) comprise major causes of death worldwide, leading to extensive burden on populations and societies. Alterations in normal lipid profiles, i.e., dyslipidemia, comprise important risk factors for CVDs. However, there is lack of comprehensive evidence on the genetic contribution to dyslipidemia in highly admixed populations. The identification of single nucleotide polymorphisms (SNPs) linked to blood lipid traits in the Brazilian population was based on genome-wide associations using data from the São Paulo Health Survey with Focus on Nutrition (ISA-Nutrition).

METHODS:

A total of 667 unrelated individuals had genetic information on 330,656 SNPs available, and were genotyped with Axiom™ 2.0 Precision Medicine Research Array. Genetic associations were tested at the 10- 5 significance level for the following phenotypes low-density lipoprotein cholesterol (LDL-c), very low-density lipoprotein cholesterol (VLDL-c), high-density lipoprotein cholesterol (HDL-c), HDL-c/LDL-c ratio, triglycerides (TGL), total cholesterol, and non-HDL-c.

RESULTS:

There were 19 significantly different SNPs associated with lipid traits, the majority of which corresponding to intron variants, especially in the genes FAM81A, ZFHX3, PTPRD, and POMC. Three variants (rs1562012, rs16972039, and rs73401081) and two variants (rs8025871 and rs2161683) were associated with two and three phenotypes, respectively. Among the subtypes, non-HDL-c had the highest proportion of associated variants.

CONCLUSIONS:

The results of the present genome-wide association study offer new insights into the genetic structure underlying lipid traits in underrepresented populations with high ancestry admixture. The associations were robust across multiple lipid phenotypes, and some of the phenotypes were associated with two or three variants. In addition, some variants were present in genes that encode ncRNAs, raising important questions regarding their role in lipid metabolism.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo de Nucleótido Simple / Estudio de Asociación del Genoma Completo Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Lipids Health Dis Asunto de la revista: BIOQUIMICA / METABOLISMO Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo de Nucleótido Simple / Estudio de Asociación del Genoma Completo Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Lipids Health Dis Asunto de la revista: BIOQUIMICA / METABOLISMO Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido