Research Article

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02/25/2005
Body iron overload; European descent; Genetic diseases; Hereditary hemochromatosis; HFE mutations

Hereditary hemochromatosis (HH) is the most common genetic disease among individuals of European descent. Two mutations (845G®A, C282Y and 187C®G, H63D) in the hemochromatosis gene (HFE gene) are associated with HH. About 85-90% of patients of northern European descent with HH are C282Y homozygous. The prevalence of HH in the Brazilian ... more

A.L.C. Martinelli; R. Filho; S. Cruz; R. Franco; M. Tavella; M. Secaf; L. Ramalho; S. Zucoloto; S. Rodrigues; M. Zago
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C282Y; Diabetes mellitus type 2; H63D; Hereditary hemochromatosis; HFE; Women

Hereditary hemochromatosis is one of the most common autosomal recessive diseases; it is characterized by excess absorption of iron. Clinically, the major challenge is to diagnose increased iron deposition before irreversible tissue damage has occurred. C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with ... more

K.B. Gomes; M.G. Carvalho; F.F. Coelho; I.F. Rodrigues; A.L. Soares; D.A. Guimarães; A.P. Fernandes
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Brazil; Hereditary hemochromatosis; HFE gene; S65C mutation

Development of hereditary hemochromatosis is asso­ciated with the C282Y, H63D or S65C mutations in the hemochro­matosis gene. Though there is extensive knowledge about the former two, there is little information on the mechanism of action and the allelic frequency of the S65C mutation. We examined the prevalence of the S65C mutation of the hemochromatosis gene in Brazilians with clinical ... more

V.C. Oliveira; F.A. Caxito; K.B. Gomes; A.M. Castro; V.C. Pardini; A.C.S. Ferreira
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Functional enrichment analysis; Hereditary hemochromatosis; Iron overload; Module analysis; Myelodysplastic syndrome

The aim of this study was to identify feature genes that are associated with hereditary hemochromatosis (HHC; iron overload) in cardiac and skeletal muscle of mice. First, the expression profile GSE9726 was downloaded from Gene Expression Omnibus database which included 12 samples. Then the differentially expressed genes (DEGs) were identified by R language. Furthermore, the KUPS software ... more

J. Wang; X. Zhou; J. Zhao; Z. Li; X. Li
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A1298C; C677T; Male infertility; Meta-analysis; MTHFR; Polymorphisms

Published studies on the association between the C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene and male infertility risk are controversial. To obtain a more precise evaluation, we performed a meta-analysis based on published case-control studies. We conducted an electronic search of PubMed, EMBASE, the Cochrane Library, the Web of Science ... more

Y. Yang; Y.Y. Luo; S. Wu; Y.D. Tang; X.D. Rao; L. Xiong; M. Tan; M.Z. Deng; H. Liu; Y. Yang; Y.Y. Luo; S. Wu; Y.D. Tang; X.D. Rao; L. Xiong; M. Tan; M.Z. Deng; H. Liu; Y. Yang; Y.Y. Luo; S. Wu; Y.D. Tang; X.D. Rao; L. Xiong; M. Tan; M.Z. Deng; H. Liu
04/07/2016
A1298C; C677T; Lung cancer; Meta-analysis; MTHFR; Polymorphisms

Results from previous studies on the association between methylenetetrahydrofolate reductase (MTHFR) polymorphisms C677T and A1298C and lung cancer have been conflicting. The aim of this meta-analysis was to clarify the effect of MTHFR polymorphisms on the risk of lung cancer. An electronic search of PubMed, EMBASE, the Cochrane library, and the China Knowledge Resource ... more

Y. Yang; L.J. Yang; M.Z. Deng; Y.Y. Luo; S. Wu; L. Xiong; D. Wang; Y. Liu; H. Liu; Y. Yang; L.J. Yang; M.Z. Deng; Y.Y. Luo; S. Wu; L. Xiong; D. Wang; Y. Liu; H. Liu; Y. Yang; L.J. Yang; M.Z. Deng; Y.Y. Luo; S. Wu; L. Xiong; D. Wang; Y. Liu; H. Liu
06/24/2016
Hepatocellular carcinoma; mt-tRNA; mutations; Polymorphisms

Mitochondrial DNA mutations have been shown to play important roles in the pathogenesis of hepatocellular carcinoma (HCC). In particular, genes encoding mitochondrial tRNA (mt-tRNA) are hotspots for pathogenic mutations associated with HCC. Recently, an increasing number of studies have reported the involvement of such mutations in this disease. As a result, several mt-tRNA mutations ... more

G. Li; Y.X. Duan; X.B. Zhang; F. Wu; G. Li; Y.X. Duan; X.B. Zhang; F. Wu