Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population

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dc.contributor.authorGan, W.
dc.contributor.authorGuan, Y.
dc.contributor.authorWu, Q.
dc.contributor.authorAn, P.
dc.contributor.authorZhu, J.
dc.contributor.authorLu, L.
dc.contributor.authorJing, L.
dc.contributor.authorYu, Y.
dc.contributor.authorRuan, S.
dc.contributor.authorXie, D.
dc.contributor.authorMakrides, M.
dc.contributor.authorGibson, R.
dc.contributor.authorAnderson, G.
dc.contributor.authorLi, H.
dc.contributor.authorLin, X.
dc.contributor.authorWang, F.
dc.date.issued2012
dc.description.abstractBACKGROUND: Transmembrane protease serine 6 (TMPRSS6) regulates iron homeostasis by inhibiting the expression of hepcidin. Multiple common variants in TMPRSS6 were significantly associated with serum iron in recent genome-wide association studies, but their effects in the Chinese remain to be elucidated. OBJECTIVE: The objective was to determine whether the TMPRSS6 single nucleotide polymorphisms (SNPs) rs855791(V736A) and rs4820268(D521D) were associated with blood hemoglobin and plasma ferritin concentrations and risk of type 2 diabetes in Chinese individuals. DESIGN: The SNPs rs855791(V736A) and rs4820268(D521D) in the TMPRSS6 gene were genotyped and tested for their associations with plasma iron and type 2 diabetes risk in 1574 unrelated Chinese Hans from Beijing. RESULTS: The 2 TMPRSS6 SNPs rs855791(V736A) and rs4820268(D521D) were both significantly associated with plasma ferritin (P ≤ 0.0058), hemoglobin (P ≤ 0.0013), iron overload risk (P ≤ 0.0068), and type 2 diabetes risk (P ≤ 0.0314). None of the associations with hemoglobin or plasma ferritin remained significant (P ≥ 0.1229) when the 2 variants were both included in one linear regression model. A haplotype carrying both iron-lowering alleles from the 2 TMPRSS SNPs showed significant associations with lower hemoglobin (P = 0.0014), lower plasma ferritin (P = 0.0027), and a reduced risk of iron overload (P = 0.0017) and of type 2 diabetes (P = 0.0277). CONCLUSIONS: These findings suggest that TMPRSS6 variants were significantly associated with plasma ferritin, hemoglobin, risk of iron overload, and type 2 diabetes in Chinese Hans. The type 2 diabetes risk conferred by the TMPRSS6 SNPs is possibly mediated by plasma ferritin.
dc.description.statementofresponsibilityWei Gan, Yu Guan, Qian Wu, Peng An, Jingwen Zhu, Ling Lu, Li Jing, Yu Yu, Sheng Ruan, Dong Xie, Maria Makrides, Robert A. Gibson, Gregory J. Anderson, Huaixing Li, Xu Lin and Fudi Wang
dc.identifier.citationAmerican Journal of Clinical Nutrition, 2012; 95(3):626-632
dc.identifier.doi10.3945/ajcn.111.025684
dc.identifier.issn0002-9165
dc.identifier.issn1938-3207
dc.identifier.orcidMakrides, M. [0000-0003-3832-541X]
dc.identifier.orcidGibson, R. [0000-0002-8750-525X]
dc.identifier.urihttp://hdl.handle.net/2440/74201
dc.language.isoen
dc.publisherAmer Soc Clinical Nutrition
dc.rights© 2012 American Society for Nutrition
dc.source.urihttps://doi.org/10.3945/ajcn.111.025684
dc.subjectHumans
dc.subjectDiabetes Mellitus, Type 2
dc.subjectIron
dc.subjectSerine Endopeptidases
dc.subjectAntimicrobial Cationic Peptides
dc.subjectHemoglobins
dc.subjectMembrane Proteins
dc.subjectLinear Models
dc.subjectRisk Factors
dc.subjectCohort Studies
dc.subjectHomeostasis
dc.subjectGenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectAlleles
dc.subjectMiddle Aged
dc.subjectChina
dc.subjectFemale
dc.subjectMale
dc.subjectFerritins
dc.subjectGenome-Wide Association Study
dc.subjectMendelian Randomization Analysis
dc.subjectHepcidins
dc.subjectAsian People
dc.titleAssociation of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population
dc.typeJournal article
pubs.publication-statusPublished

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