2016
DOI: 10.5935/1676-2444.20160003
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Prevalence of C282Y and H63D mutations in the HFE gene in patients from São Paulo and Southern Brazil

Abstract: The history of muscle biopsy dates back to 1860, when Duchenne first performed a biopsy on a patient with symptoms of myopathy (1) . Since then, the basic and clinical science of muscle and muscle disease has gone through three stages of development: the classical period, the modern stage and the molecular era.

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Cited by 5 publications
(7 citation statements)
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“…19,20 An allele frequency was found to be 8.33%, 4.4%, 7.6%, and 8.5% in the Brazilian, German, French, and British populations, respectively. 9 When compared to the 1000 genome project data, the frequencies in the study population were significantly different from the American and European populations.…”
Section: Discussionmentioning
confidence: 77%
See 2 more Smart Citations
“…19,20 An allele frequency was found to be 8.33%, 4.4%, 7.6%, and 8.5% in the Brazilian, German, French, and British populations, respectively. 9 When compared to the 1000 genome project data, the frequencies in the study population were significantly different from the American and European populations.…”
Section: Discussionmentioning
confidence: 77%
“…Two SNPs (rs1799945 and rs1800562) in the HFE gene have been found to cause HH in the European population. 9 van der Schoot et al 10 carried out a study to investigate the role of these polymorphism in the development of BPT as the HFE gene is known to regulate iron metabolism, and the SNPs in these genes may contribute to toxicity. They reported that rs1799945 was associated with a higher incidence of BPT, but they could not analyze the role of rs1800562 as the frequency of the mutant genotype was very low.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…HFE gene mutations associated with hemochromatosis are common in the Brazilian population, (19) and are the primary diagnostic hypothesis in these patients, leading to unnecessary diagnostic procedures and therapeutic phlebotomies. (20) The frequency and in silico prediction of the pathogenic mutation in the population and the classification according to American College of Medical Genetics and Genomics (ACMG) criteria are shown in table 1. The mutation detected was assigned the "disease causing" status according to mutation Taster and was classified as "pathogenic" in ClinVar.…”
Section: ❚ Discussionmentioning
confidence: 99%
“…A mutation for the S65C polymorphism is responsible for the substitution of serine for a cysteine, due to the exchange in exon 2 [67]. These are the most frequent mutations for this gene in the Brazilian population [68][69][70].…”
Section: [Tnfα (-308 G > A) Tgfβ ( -509 C > T) Enos (-786 T > C) and ...mentioning
confidence: 99%