Journal
BLOOD
Volume 115, Issue 1, Pages 94-96Publisher
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2009-07-232496
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Funding
- National Institutes of Health, National Institute on Aging [263 MD 9164, 263 MD 821336, R37 AG19905, N01-AG12112]
- Medstar Research Institute
- Italian Ministry of Health [19982000, ICS110.1/RF97.71]
- NCRR OPD-GCRC [RR00722]
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To investigate genetic variants that affect iron concentrations in persons not affected by overt genetic disorders of iron metabolism, a genome-wide association study was conducted in the InCHIANTI Study (N = 1206) and the Baltimore Longitudinal Study of Aging (N = 713). The top 2 single-nucleotide polymorphisms were examined for replication in the Women's Health and Aging Study (WHAS) I and II (N = 569). The single-nucleotide polymorphism most strongly associated with lower serum iron concentration was rs4820268 (P = 5.12 x 10(-9)), located in exon 13 of the transmembrane protease serine 6 (TMPRSS6) gene, an enzyme that promotes iron absorption and recycling by inhibiting hepcidin antimicrobial peptide transcription. The allele associated with lower iron concentrations was also associated with lower hemoglobin levels, smaller red cells, and more variability in red cell size (high red blood cell distribution width). Our results confirm the association of TMPRSS6 variants with iron level and provide further evidence of association with other anemia-related phenotypes. (Blood. 2010;115:94-96)
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