No association between MTHFR A1298C and MTRR A66G polymorphisms, and MS in an Australian cohort

Szvetko, Attila Laszlo; Fowdar, Javed; Nelson, Jonathan; Colson, Natalie Jane; Tajouri, Lotfi; Csurhes, Peter A.; Pender, Michael P.; Griffiths, Lyn R.

doi:10.1016/j.jns.2006.10.006

Cited by 22 publications

(11 citation statements)

References 22 publications

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“…[12–17] MTRR, CBS and SULT1A1 differ significantly from the other populations. [151718–21] Our recent reports on TPMT gene polymorphism from the same population also showed a significant difference in allelic frequency with other populations. [22] These results indicate that genotype data from one group or subgroup (i.e., nation or ethnicity) should not be overly generalized and applied to genetically distinct groups (i.e., other nations or ethnicities).…”

Section: Discussionmentioning

confidence: 74%

Genetic variation in genes involved in folate and drug metabolism in a south Indian population

et al. 2011

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BACKGROUND:Genetic variations represented as single nucleotide polymorphisms (SNPs) vary across the world population. This genetic polymorphism (such as SNPs) plays an important role in pharmacogenomics. SNPs that affects cellular metabolism, by altering the enzyme activity, have an important role in therapeutic outcome. Allele frequencies in number of clinically relevant SNPs within south Indian populations are not yet known. Hence, we genotyped randomly selected unrelated south Indian subjects from different locations of south India representing the heterogeneous ethnic background of the population.MATERIALS AND METHODS:Common variants of MTHFD1, TYMS, SHMT1, MTR, MTRR, CBS and SULT1A1 gene polymorphisms were screened from healthy unrelated south Indian volunteers. Genotypes were determined using RFLP analysis of polymerase chain reaction-amplified products and confirmed by DNA sequencing. Chi-square test was performed to test for deviation from the Hardy-Weinberg equilibrium for each locus.RESULTS:Gene allele frequency for several polymorphisms in our study differed significantly between the populations of other nations reported for several of the SNPs. These results demonstrate that the populations in different geographic regions may have widely varying genetic allele frequencies for clinically relevant SNPs.CONCLUSION:The present study reports, for the first time, the frequency distribution of MTHFD1, TYMS, SHMT1, MTR, MTRR, CBS and SULTIA1 gene polymorphisms in a south Indian population. Population-specific genetic polymorphism studies will help in practicing pharmacogenomic principles in the clinics.

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Section: Discussionmentioning

confidence: 74%

Genetic variation in genes involved in folate and drug metabolism in a south Indian population

et al. 2011

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“…The PCR protocol was as follows: 1X PCR buffer, 1.5 mM MgCl 2 , 0.2 mM dNTPs, 0.3uM forward primer, 0.3uM reverse primer, 1.6uM SYTO9, 1U GoTaq, and 40 ng of DNA. The primer sequences were obtained from a previous study [26] and were validated using an RFLP approach to genotype positive controls as described previously [27]. The PCR followed by high resolution melting analysis was conducted on a Qiagen Rotor-Q (Qiagen, Doncaster, VIC, Australia) and the thermocycling conditions were as follows: 95°C for 5 mins, then 95°C for 5 seconds and 60°C for 10 seconds for 45 cycles.…”

Section: Methodsmentioning

confidence: 99%

Investigation of Homocysteine-Pathway-Related Variants in Essential Hypertension

Fowdar

Lason

Szvetko

et al. 2012

International Journal of Hypertension

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Hyperhomocysteinemia (hHcy) has been associated with an increased risk of cardiovascular disease and stroke. Essential hypertension (EH), a polygenic condition, has also been associated with increased risk of cardiovascular related disorders. To investigate the role of the homocysteine (Hcy) metabolism pathway in hypertension we conducted a case-control association study of Hcy pathway gene variants in a cohort of Caucasian hypertensives and age- and sex-matched normotensives. We genotyped two polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR C677T and MTHFR A1298C), one polymorphism in the methionine synthase reductase gene (MTRR A66G), and one polymorphism in the methylenetetrahydrofolate dehydrogenase 1 gene (MTHFD1 G1958A) and assessed their association with hypertension using chi-square analysis. We also performed a multifactor dimensionality reduction (MDR) analysis to investigate any potential epistatic interactions among the four polymorphisms and EH. None of the four polymorphisms was significantly associated with EH and although we found a moderate synergistic interaction between MTHFR A1298C and MTRR A66G, the association of the interaction model with EH was not statistically significant (P = 0.2367). Our findings therefore suggest no individual or interactive association between four prominent Hcy pathway markers and EH.

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“…Two polymorphisms MTRR A66G and MTHFR A1298C were investigated in an Australian case-control population (140 controls and 140 patients) study. No significant allelic frequency difference was observed between cases and controls [37]. The genotype frequencies of the missense variant MTHFR 1298A > C investigated study in Germany were significantly different between patients (1298AA: 1298:AC and 1298 CC and 0.34: 0.55: 0.11) and controls (0.52: 0.36: 0.12).…”

Section: Genetic Susceptibility and The Risk Of Msmentioning

confidence: 68%

The Role of Folate Dependent Genetic Susceptibility in The Risk of Multiple Sclerosis

Asci¹,

Karahalıl²

2017

J Neurol Neurosci

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Background: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) of unknown cause. Epidemiological studies implicate that genetic and environmental factors interplay major roles in the etiology of MS. Several investigators have reported elevated plasma homocysteine and reduced folate and B vitamin levels in MS. Aberrations in one-carbon metabolism have impact in the pathophysiology by genetic susceptibility and increased the risk of MS. Furthermore, abnormalities in a carbon metabolism pathway may result from environmental factors such as reduced levels of vitamin B and folate due to inadequate B vitamin and folate intake from foods or the problems on their synthesis, and genetic factors such as polymorphism in folate -dependent enzymes.

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No association between MTHFR A1298C and MTRR A66G polymorphisms, and MS in an Australian cohort

Cited by 22 publications

References 22 publications

Genetic variation in genes involved in folate and drug metabolism in a south Indian population

Genetic variation in genes involved in folate and drug metabolism in a south Indian population

Investigation of Homocysteine-Pathway-Related Variants in Essential Hypertension

The Role of Folate Dependent Genetic Susceptibility in The Risk of Multiple Sclerosis

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