Polymorphism Analysis of MTHFR, Factor II, and Factor V Genes in the Pomeranian Population of Espirito Santo, Brazil

Stur, Elaine; Silveira, Amanda Nunes; Selvatici, Livia Serra; Alves, Lyvia Neves Rebello; Wolfgramm, Eldamária de Vargas; Tovar, Thaís Tristão; Sartori, Mariana Penha De Nadai; Paula, Fabiana Martins de; Louro, Iúri Drumond

doi:10.1089/gtmb.2011.0163

Cited by 7 publications

(8 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There was no statistically significant difference in allelic and genotypic distributions between the two populations. This result confirms data of Stur et al [42] which reported gene flow between the general and Pomeranian populations of ES. Numbers in parenthesis represents allele or genotype counts For each SNP, we analyzed the difference in genotype distribution among ES populations and two other populations of different ethnic groups randomly selected and a population of southeast Brazil (Table 6).…”

Section: Discussionsupporting

confidence: 93%

Polymorphic genetic variation in immune system genes: a study of two populations of Espirito Santo, Brazil

et al. 2013

Self Cite

View full text Add to dashboard Cite

Mapping single nucleotide polymorphisms (SNPs) in genes potentially involved in immune responses may help understand the pathophysiology of infectious diseases in specific geographical regions. In this context, we have aimed to analyze the frequency of immunogenetic markers, focusing on genes CD209 (SNP -336A/G), FCγRIIa (SNP -131H/R), TNF-α (SNP -308A/G) and VDR (SNP Taq I) in two populations of the Espirito Santo State (ES), Brazil: general and Pomeranian populations. Peripheral blood genomic DNA was extracted from one hundred healthy individuals of the general population and from 59 Pomeranians. Polymorphic variant identification was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). SNP genotype frequencies were in Hardy-Weinberg Equilibrium. There was no statistically significant difference in allelic and genotypic distributions between the two populations studied. Statistically significant differences were observed for SNP genotype distribution in genes CD209, TNF-α and VDR when comparing the ES populations with other Brazilian populations. This is the first report of CD209, FcγRIIa, TNF-α and VDR allelic frequencies for the general and Pomeranian populations of ES.

show abstract

Section: Discussionsupporting

confidence: 93%

Polymorphic genetic variation in immune system genes: a study of two populations of Espirito Santo, Brazil

et al. 2013

Self Cite

View full text Add to dashboard Cite

show abstract

“…Thus, considerable heterogeneity is expected in the frequency distribution of genetic variants within Brazilian territory. For example, while in a northern Brazilian population the frequency of the FV G1691A and FII G20212A variants was 1.6 (P = 0.248) and 0.8% (P = 0.5), respectively, (Yoshioka et al, 2006) same variants was 4.8 (P = 0.029) and 2% (P = 0.123) (Stur et al, 2012). The former northern findings did not differ significantly from the frequencies found in this study.…”

Section: Discussioncontrasting

confidence: 62%

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Ferreira-Fernandes

Costa²,

Fernandes³

et al. 2013

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Venous thromboembolism (VTE) is an important cause of morbidity and mortality stemming from cardiovascular disease. It is a multifactorial disease caused by a combination of acquired risk factors, of which advanced age is the most significant, and genetic factors, including the variants FV G1691A, FII G20210A, and MTHFR C677T. We estimated the prevalence of these genomic variants in an elderly population of northeastern Brazil. The study included 188 elderly persons (65-93 years), of which 68 (36.2%) were men and 120 (63.8%) were women. Variants were detected by polymerase chain reaction-3699 FV G1691A, FII G20210A, and MTHFR C677T in the elderly ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (3): 3698-3707 (2013) restriction fragment length polymorphism analysis, and subsequent electrophoresis on an 8% polyacrylamide gel stained with silver nitrate. The study population was in Hardy-Weinberg equilibrium for the 3 loci. Of the individuals analyzed, none carried variants of FV or FII (0%), and 24.7% had the MTHFR C677T polymorphism: 59 subjects (31.4%) were heterozygous (CT) and 17 subjects (9%) were homozygous (TT). Based on the analysis of these particular genes, we conclude that the study population does not present an increased risk for the development of VTE. Faced with a growing aging population worldwide, similar studies in other countries will help in the prevention of VTE in older individuals.

show abstract

“…We did not observe the presence of a homozygous genotype for either C282Y or S65C among the studied population, and the heterozygous compound genotype C282Y/H63D was observed in only one sample. The MTHFR mutations showed a prevalence of 44.8% (C/T) and 9.8% (T/T) for C677T and 33.6% (A/C) and 6.1% (C/C) for A1298C, consistent with the results obtained from previous studies in Brazilian children and other control groups [ 22 – 24 , 26 , 42 ]. A comparison of the results obtained in the present study with those obtained in a recent prevalence study in middle-southern Italian blood donors revealed that the cohort used in this study presented a higher number of wild-type subjects for both C677T and A1298C [ 43 ].…”

Section: Discussionsupporting

confidence: 91%

Evaluation of a High Throughput Method for the Detection of Mutations Associated with Thrombosis and Hereditary Hemochromatosis in Brazilian Blood Donors

et al. 2015

View full text Add to dashboard Cite

BackgroundThe aim of this study was to evaluate the OpenArray platform for genetic testing of blood donors and to assess the genotype frequencies of nucleotide-polymorphisms (SNPs) associated with venous thrombosis (G1691A and G20210A), hyperhomocysteinemia (C677T, A1298C), and hereditary hemochromatosis (C282Y, H63D and S65C) in blood donors from Sao Paulo, Brazil.MethodsWe examined 400 blood donor samples collected from October to November 2011. The SNPs were detected using OpenArray technology. The blood samples were also examined using a real-time PCR–FRET system to compare the results and determine the accuracy of the OpenArray method.ResultsWe observed 100% agreement in all assays tested, except HFE C282Y, which showed 99.75% agreement. The HFE C282Y assay was further confirmed through direct sequencing, and the results showed that OpenArray analysis was accurate. The calculated frequencies of each SNP were FV G1691A 98.8% (G/G), 1.2% (G/A); FII G2021A 99.5% (G/G), 0.5% (G/A); MTHFR C677T 45.5% (C/C), 44.8% (C/T), 9.8% (T/T); MTHFR A1298C 60.3% (A/A), 33.6% (A/C), 6.1% (C/C); HFE C282Y 96%(G/G), 4%(G/A), HFE H63D 78.1%(C/C), 20.3% (C/G), 1.6% (G/G); and HFE S65C 98.1% (A/A), 1.9% (A/T).ConclusionTaken together, these results describe the frequencies of SNPs associated with diseases and are important to enhance our current knowledge of the genetic profiles of Brazilian blood donors, although a larger study is needed for a more accurate determination of the frequency of the alleles. Furthermore, the OpenArray platform showed a high concordance rate with standard FRET RT-PCR.

show abstract

Polymorphism Analysis of MTHFR, Factor II, and Factor V Genes in the Pomeranian Population of Espirito Santo, Brazil

Cited by 7 publications

References 18 publications

Polymorphic genetic variation in immune system genes: a study of two populations of Espirito Santo, Brazil

Polymorphic genetic variation in immune system genes: a study of two populations of Espirito Santo, Brazil

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Evaluation of a High Throughput Method for the Detection of Mutations Associated with Thrombosis and Hereditary Hemochromatosis in Brazilian Blood Donors

Contact Info

Product

Resources

About