title: Genetic variability of TMPRSS6 and its association with iron deficiency anaemia.
abstract: Transmembrane Protease, Serine 6 (TMPRSS6) has an important role in iron homeostasis and its mutations, performed in TMPRSS6-deficient mice, have been recently associated with iron-refractory iron deficiency anaemia (IRIDA). Several variants of TMPRSS6 have been already identified; however the role of polymorphisms and TMPRSS6 haplotypes, causing iron deficiency anaemia, have not yet been investigated. This study sequenced the TMPRSS6 gene in 16 subjects with IRIDA phenotype and identified 27 DNA polymorphisms. Eight single nucleotide polymorphisms and four haplotypes were significantly associated with iron-refractory anaemia (P < 0·001). Our preliminary results suggest a possible association between specific haplotypes of TMPRSS6 and IRIDA.
authors.affiliation: Fondazione IRCCS ‘‘Ca’ Granda’’-Ospedale Maggiore Policlinico, University of Milan, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Delbini
authors.forename: Valentina
authors.initials: V
authors.lastname: Vaja
authors.forename: Giovanna
authors.initials: G
authors.lastname: Graziadei
authors.forename: Lorena
authors.initials: L
authors.lastname: Duca
authors.forename: Isabella
authors.initials: I
authors.lastname: Nava
authors.forename: Chiara
authors.initials: C
authors.lastname: Refaldi
authors.forename: Maria D
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D000328:Adult; D018798:Anemia, Iron-Deficiency / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human