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A genetic risk factor for low serum ferritin levels in Danish blood donors
Author(s) -
Sørensen Erik,
Grau Katrine,
Berg Trine,
Simonsen Anne Catrine,
Magnussen Karin,
Erikstrup Christian,
Hansen Morten Bagge,
Ullum Henrik
Publication year - 2012
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/j.1537-2995.2012.03629.x
Subject(s) - genotype , ferritin , single nucleotide polymorphism , odds ratio , serum iron , allele , medicine , iron deficiency , confidence interval , polymorphism (computer science) , blood donor , allele frequency , serum ferritin , immunology , gastroenterology , hemoglobin , biology , genetics , anemia , gene
BACKGROUND: Iron deficiency is a frequent side effect of blood donation. In recent years, several studies have described genetic variants associated with iron concentrations. However, the impact of these variants on iron levels is unknown in blood donors. Knowledge of genetic variants that predispose donors to iron deficiency would allow bleeding frequency and iron supplementation to be tailored to the individual donor. STUDY DESIGN AND METHODS: The genotypes of five specific single‐nucleotide polymorphisms (SNPs) in three genes that have been previously associated with iron status and/or restless leg syndrome (RLS) were investigated in two groups of female blood donors. The first group had low iron stores (serum ferritin ≤ 12 µg/L, n = 657), and the second group had normal to high iron stores (serum ferritin > 30 µg/L, n = 645). Genotype distribution for each of the SNPs was compared between the two groups. RESULTS: Homozygosity for the T‐allele of BTBD9 rs9296249 was associated with lower serum ferritin. The odds ratio for low serum ferritin was 1.35 (95% confidence interval, 1.02‐1.77; p = 0.03) when comparing donors with the TT genotype with donors with the CT genotype. CONCLUSION: A frequent polymorphism in BTBD9 was significantly associated with serum ferritin. This polymorphism has previously been associated with RLS, but not low iron stores in blood donors.