Common variants and haplotypes in the TF, TNF-a, and TMPRSS6 genes are associated with iron status in a female black South African population

W.N. Gichohi-Wainaina, A. Boonstra, D.W. Swinkels, M.B. Zimmermann, E.J.M. Feskens, G.W. Towers

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)

Abstract

Background: 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. Objectives: We aimed to investigate associations of reported SNPs with iron markers in a South African cohort. Methods: Blood concentrations of hemoglobin, serum ferritin (SF), serum soluble transferrin receptor (sTfR), and body iron (BI) stores were determined from 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. Results: 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-a (TNF-a) and rs2071592 in nuclear factor ¿B inhibitor–like protein 1 (NFKBIL1) was associated with higher odds for low SF concentrations (SF <15 µg/L; OR: 1.86; 95% CI: 1.23, 2.79) than the allele combinations AGA, GGT, and AGT. The chromosome 22 allele combination (GG) consisting of rs228918 and rs228921 in the transmembrane protease serine 6 (TMPRSS6) gene was associated with lower odds for increased sTfR concentrations (sTfR > 8.3mg/L; OR: 0.79; 95% CI: 0.63, 0.98) than the allele combination AA. Conclusions: Various SNPs and allele combinations in the TF, TNF-a, 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.
Original languageEnglish
Pages (from-to)945-953
JournalThe Journal of Nutrition
Volume145
Issue number5
DOIs
Publication statusPublished - 2015

Keywords

  • tumor-necrosis-factor
  • transferrin g277s mutation
  • deficiency anemia
  • serum hepcidin
  • women
  • risk
  • disease
  • hfe
  • polymorphisms
  • saturation

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