Genome-Wide Admixture and Association Study of Serum Selenium Deficiency to Identify Genetic Variants Indirectly Linked to Selenium Regulation in Brazilian Adults

• Published in: Nutrients Vol. 16; no. 11; p. 1627
• Main Authors: Moriguchi Watanabe, Ligia, Sousa, Lisete, Couto, Francisco M, Noronha, Natália Yumi, de Souza Pinhel, Marcela Augusta, da Silva Carvalho, Gleyson Francisco, da Silva Rodrigues, Guilherme, Bueno Júnior, Carlos Roberto, Kulikowski, Leslie Domenici, Barbosa Júnior, Fernando, Nonino, Carla Barbosa
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 26.05.2024; MDPI
• Subjects: admixed population; Adult; African People; Body mass index; Brazil; Deficiency diseases; East Asian People; Female; Food; Genes; Genetic aspects; Genetic Predisposition to Disease; Genome-Wide Association Study; Genomes; Genomics; Genotype; Genotype & phenotype; GWAS; Health aspects; Humans; Male; Middle Aged; Physiological aspects; Polymorphism, Single Nucleotide; Protein Interaction Maps - genetics; Proteins; Selenium; Selenium - blood; Selenium - deficiency; Single nucleotide polymorphisms; White People - genetics; Brazil; United States > US; admixed population; selenium deficiency; GWAS
• ISSN: 2072-6643; 2072-6643
• DOI: 10.3390/nu16111627

Blood selenium (Se) concentrations differ substantially by population and could be influenced by genetic variants, increasing Se deficiency-related diseases. We conducted a genome-wide association study (GWAS) to identify single nucleotide polymorphisms (SNPs) associated with serum Se deficiency in 382 adults with admixed ancestry. Genotyping arrays were combined to yield 90,937 SNPs. R packages were applied to quality control and imputation. We also performed the ancestral proportion analysis. The Search Tool for the Retrieval of Interacting Genes was used to interrogate known protein-protein interaction networks (PPIs). Our ancestral proportion analysis estimated 71% of the genome was from Caucasians, 22% was from Africans, and 8% was from East Asians. We identified the SNP rs1561573 in the TraB domain containing 2B ( ), rs425664 in MAF bZIP transcription factor ( ), rs10444656 in spermatogenesis-associated 13 ( ), and rs6592284 in heat shock protein nuclear import factor ( ) genes. The PPI analysis showed functional associations of Se deficiency, thyroid hormone metabolism, NRF2-ARE and the Wnt pathway, and heat stress. Our findings show evidence of a genetic association between Se deficiency and metabolic pathways indirectly linked to Se regulation, reinforcing the complex relationship between Se intake and the endogenous factors affecting the Se requirements for optimal health.