Abstract:
: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.
journal_name
Bloodjournal_title
Bloodauthors
Tanaka T,Roy CN,Yao W,Matteini A,Semba RD,Arking D,Walston JD,Fried LP,Singleton A,Guralnik J,Abecasis GR,Bandinelli S,Longo DL,Ferrucci Ldoi
10.1182/blood-2009-07-232496subject
Has Abstractpub_date
2010-01-07 00:00:00pages
94-6issue
1eissn
0006-4971issn
1528-0020pii
blood-2009-07-232496journal_volume
115pub_type
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