Common Variants and Haplotypes in the TF, TNF-α, and TMPRSS6 Genes Are Associated with Iron Status in a Female Black South African Population
Common Variants and Haplotypes in the TF, TNF-α, and TMPRSS6 Genes Are Associated with Iron Status in a Female Black South African Population
It is unknown whether single nucleotide polymorphisms (SNPs), associated with iron status in European and Asian populations, have the same relation within the African population.We investigated associations of reported SNPs with iron markers in a South African cohort.Hemoglobin concentration, serum ferritin (SF) and soluble transferrin receptor (sTfR) concentrations, and body iron (BI) stores were measured in women (n = 686; range, 32-86 y) who were part of the Prospective Urban and Rural Epidemiology study. Thirty-two SNPs in 12 genes were selected based on existing genome-wide association study data.In the transferrin (TF) gene, SF and BI were significantly lower in the heterozygote genotype (AG) of reference SNP (rs) 1799852 (P = 0.01 and 0.03, respectively) and sTfR concentrations were significantly higher (P = 0.004) than the homozygote minor allele genotype (AA), whereas transferrin receptor and BI concentrations were significantly lower in the heterozygote genotype (AG) of rs3811647 (both P = 0.03) than the homozygote wild-type (AA) and minor allele groups (GG). The chromosome 6 allele combination (AAA) consisting of rs1799964 and rs1800629 both in tumor necrosis factor-α (TNF-α) and rs2071592 in nuclear factor κB inhibitor-like protein 1 (NFKBIL1) was associated with higher odds for low SF concentrations (SF 8.3mg/L; OR: 0.79; 95% CI: 0.63, 0.98) than the allele combination AA.Various SNPs and allele combinations in the TF, TNF-α, and TMPRSS6 genes are associated with iron status in black South African women; however, these association patterns are different compared with European ancestry populations. This stresses the need for population-specific genomic data.
- ETH Zurich Switzerland
- Institute of Food, Nutrition, and Health Switzerland
- Radboud University Nijmegen Netherlands
- Wageningen University & Research Netherlands
- North-West University South Africa
Adult, deficiency anemia, Black People, Nutritional Status, serum hepcidin, Polymorphism, Single Nucleotide, Cohort Studies, Receptors, Transferrin, Humans, Genetic Predisposition to Disease, Prospective Studies, hfe, Alleles, Genetic Association Studies, risk, Adaptor Proteins, Signal Transducing, Aged, Aged, 80 and over, disease, Anemia, Iron-Deficiency, saturation, Serine Endopeptidases, Histocompatibility Antigens Class II, Membrane Proteins, Middle Aged, Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Female, women, transferrin g277s mutation, polymorphisms, tumor-necrosis-factor
Adult, deficiency anemia, Black People, Nutritional Status, serum hepcidin, Polymorphism, Single Nucleotide, Cohort Studies, Receptors, Transferrin, Humans, Genetic Predisposition to Disease, Prospective Studies, hfe, Alleles, Genetic Association Studies, risk, Adaptor Proteins, Signal Transducing, Aged, Aged, 80 and over, disease, Anemia, Iron-Deficiency, saturation, Serine Endopeptidases, Histocompatibility Antigens Class II, Membrane Proteins, Middle Aged, Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Female, women, transferrin g277s mutation, polymorphisms, tumor-necrosis-factor
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