Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was performed to identify genetic loci associated in the general population with serum...

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Veröffentlicht in:	Human molecular genetics Jg. 20; H. 6; S. 1232
Hauptverfasser:	Pichler, Irene, Minelli, Cosetta, Sanna, Serena, Tanaka, Toshiko, Schwienbacher, Christine, Naitza, Silvia, Porcu, Eleonora, Pattaro, Cristian, Busonero, Fabio, Zanon, Alessandra, Maschio, Andrea, Melville, Scott A, Grazia Piras, Maria, Longo, Dan L, Guralnik, Jack, Hernandez, Dena, Bandinelli, Stefania, Aigner, Elmar, Murphy, Anthony T, Wroblewski, Victor, Marroni, Fabio, Theurl, Igor, Gnewuch, Carsten, Schadt, Eric, Mitterer, Manfred, Schlessinger, David, Ferrucci, Luigi, Witcher, Derrick R, Hicks, Andrew A, Weiss, Günter, Uda, Manuela, Pramstaller, Peter P
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England 15.03.2011
Schlagworte:	Adult Aged Aged, 80 and over Cross-Sectional Studies Female Genetic Variation Humans Iron - blood Male Middle Aged Polymorphism, Single Nucleotide Receptors, Transferrin - genetics Receptors, Transferrin - metabolism Young Adult
ISSN:	1460-2083, 1460-2083
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Abstract	The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was performed to identify genetic loci associated in the general population with serum levels of iron and markers of iron status, including transferrin, ferritin, soluble transferrin receptor (sTfR) and sTfR-ferritin index. We identified and replicated a novel association of a common variant in the type-2 transferrin receptor (TFR2) gene with iron levels, with effect sizes highly consistent across samples. In addition, we identified and replicated an association between the HFE locus and ferritin and confirmed previously reported associations with the TF, TMPRSS6 and HFE genes. The five replicated variants were tested for association with expression levels of the corresponding genes in a publicly available data set of human liver samples, and nominally statistically significant expression differences by genotype were observed for all genes, although only rs3811647 in the TF gene survived the Bonferroni correction for multiple testing. In addition, we measured for the first time the effects of the common variant in TMPRSS6, rs4820268, on hepcidin mRNA in peripheral blood (n = 83 individuals) and on hepcidin levels in urine (n = 529) and observed an association in the same direction, though only borderline significant. These functional findings require confirmation in further studies with larger sample sizes, but they suggest that common variants in TMPRSS6 could modify the hepcidin-iron feedback loop in clinically unaffected individuals, thus making them more susceptible to imbalances of iron homeostasis.
AbstractList	The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was performed to identify genetic loci associated in the general population with serum levels of iron and markers of iron status, including transferrin, ferritin, soluble transferrin receptor (sTfR) and sTfR-ferritin index. We identified and replicated a novel association of a common variant in the type-2 transferrin receptor (TFR2) gene with iron levels, with effect sizes highly consistent across samples. In addition, we identified and replicated an association between the HFE locus and ferritin and confirmed previously reported associations with the TF, TMPRSS6 and HFE genes. The five replicated variants were tested for association with expression levels of the corresponding genes in a publicly available data set of human liver samples, and nominally statistically significant expression differences by genotype were observed for all genes, although only rs3811647 in the TF gene survived the Bonferroni correction for multiple testing. In addition, we measured for the first time the effects of the common variant in TMPRSS6, rs4820268, on hepcidin mRNA in peripheral blood (n = 83 individuals) and on hepcidin levels in urine (n = 529) and observed an association in the same direction, though only borderline significant. These functional findings require confirmation in further studies with larger sample sizes, but they suggest that common variants in TMPRSS6 could modify the hepcidin-iron feedback loop in clinically unaffected individuals, thus making them more susceptible to imbalances of iron homeostasis. The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was performed to identify genetic loci associated in the general population with serum levels of iron and markers of iron status, including transferrin, ferritin, soluble transferrin receptor (sTfR) and sTfR-ferritin index. We identified and replicated a novel association of a common variant in the type-2 transferrin receptor (TFR2) gene with iron levels, with effect sizes highly consistent across samples. In addition, we identified and replicated an association between the HFE locus and ferritin and confirmed previously reported associations with the TF, TMPRSS6 and HFE genes. The five replicated variants were tested for association with expression levels of the corresponding genes in a publicly available data set of human liver samples, and nominally statistically significant expression differences by genotype were observed for all genes, although only rs3811647 in the TF gene survived the Bonferroni correction for multiple testing. In addition, we measured for the first time the effects of the common variant in TMPRSS6, rs4820268, on hepcidin mRNA in peripheral blood (n = 83 individuals) and on hepcidin levels in urine (n = 529) and observed an association in the same direction, though only borderline significant. These functional findings require confirmation in further studies with larger sample sizes, but they suggest that common variants in TMPRSS6 could modify the hepcidin-iron feedback loop in clinically unaffected individuals, thus making them more susceptible to imbalances of iron homeostasis.The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was performed to identify genetic loci associated in the general population with serum levels of iron and markers of iron status, including transferrin, ferritin, soluble transferrin receptor (sTfR) and sTfR-ferritin index. We identified and replicated a novel association of a common variant in the type-2 transferrin receptor (TFR2) gene with iron levels, with effect sizes highly consistent across samples. In addition, we identified and replicated an association between the HFE locus and ferritin and confirmed previously reported associations with the TF, TMPRSS6 and HFE genes. The five replicated variants were tested for association with expression levels of the corresponding genes in a publicly available data set of human liver samples, and nominally statistically significant expression differences by genotype were observed for all genes, although only rs3811647 in the TF gene survived the Bonferroni correction for multiple testing. In addition, we measured for the first time the effects of the common variant in TMPRSS6, rs4820268, on hepcidin mRNA in peripheral blood (n = 83 individuals) and on hepcidin levels in urine (n = 529) and observed an association in the same direction, though only borderline significant. These functional findings require confirmation in further studies with larger sample sizes, but they suggest that common variants in TMPRSS6 could modify the hepcidin-iron feedback loop in clinically unaffected individuals, thus making them more susceptible to imbalances of iron homeostasis.
Author	Aigner, Elmar Hernandez, Dena Theurl, Igor Murphy, Anthony T Guralnik, Jack Weiss, Günter Naitza, Silvia Schlessinger, David Porcu, Eleonora Longo, Dan L Sanna, Serena Pichler, Irene Busonero, Fabio Maschio, Andrea Schadt, Eric Mitterer, Manfred Hicks, Andrew A Ferrucci, Luigi Gnewuch, Carsten Uda, Manuela Tanaka, Toshiko Bandinelli, Stefania Wroblewski, Victor Witcher, Derrick R Melville, Scott A Zanon, Alessandra Grazia Piras, Maria Pattaro, Cristian Minelli, Cosetta Schwienbacher, Christine Marroni, Fabio Pramstaller, Peter P
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Snippet	The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association...
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SubjectTerms	Adult Aged Aged, 80 and over Cross-Sectional Studies Female Genetic Variation Humans Iron - blood Male Middle Aged Polymorphism, Single Nucleotide Receptors, Transferrin - genetics Receptors, Transferrin - metabolism Young Adult
Title	Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
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