scholarly journals Association study of MTHFR-c677t with male infertility and reporting new potential SNPS/ sequence variants as a sourse of population genetic markers

Genetika ◽  
2020 ◽  
Vol 52 (3) ◽  
pp. 1181-1192
Author(s):  
Amir Pourborhanzadeh ◽  
Masoud Sheidai ◽  
Zahra Noormohammadi ◽  
Naser Kalhor ◽  
Mehdi Horestani
Keyword(s):  
Population Genetics ◽  
Male Infertility ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Unprotected Intercourse ◽  
Significant Relation ◽  
Salting Out ◽  
Pcr Rflp ◽  
Genetic And Environmental Factors ◽  
And Control

It is estimated that about 15% of couples concern with the inability to conceive after 1 year of unprotected intercourse. Genetic and environmental factors play important roles in male infertility. MTHFR (Methylene Tetrahydro Folate Reductase) is encoded by a gene which maps to human chromosome 1p36.22. The c.677C>T mutation causes an amino - acid change of Alanine to Valine (Ala222Val) in exon 4 which is related to oligospermia and azoospermia. Our purpose was to investigate the association of rs1801133 in MTHFR gene with azoospermia and also genetic diversity of some Iranian folks. Peripheral blood samples of 100 men suffered from azoospermia and 55 controls collected from Infertility Clinic of Jihad-university of Qom. DNA was extracted by salting-out method and SNP-Genotyping was performed by PCR-RFLP technique and sequencing. Furthermore, statistical and population genetics analysis were done. The rs1801133 showed no significant relation with azoospermia according to statistical analysis. Furthermore, population genetics analysis showed that there is no genetic differentiation between Turk and Fars ethnics and case and control individuals. MTHFR studied SNP has no significant relation with azoospermia infertility, although further studies on more samples are demanded.

Association between FVL G1691A, MTHFR C677T and A1298C Polymorphisms with Risk for Retinopathy of PrematurityAssociation between FVL G1691A, MTHFR C677T and A1298C Polymorphisms with Risk for Retinopathy of Prematurity

2021 ◽  
Author(s):  
Hamideh Shajari ◽  
Mohammadamin Ghadyani ◽  
Seyed Hamed Hosseini-Jangjou ◽  
Reza Bahrami ◽  
Seyed Alireza Dastgheib ◽  
...  
Keyword(s):  
Retinopathy Of Prematurity ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Factor V ◽  
Background Retinopathy ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Rflp Assay ◽  
Preventable Blindness

Background: Retinopathy of prematurity (ROP) is an important cause of preventable blindness in children. The aim of this study was to examine the association of the polymorphisms at Factor V Leiden (FVL) and methylene tetrahydrofolate reductase (MTHFR) gene with risk of ROP. Methods: A total of 106 neonates with ROP and 110 healthy neonates were enrolled. The FVL G1691A and MTHFR C677T and A1298C polymorphisms were genotyped by PCR-RFLP assay. Results: There was a significant association between FVL G1691A polymorphism and an increased risk of ROP. However, the MTHFR C677T and A1298C polymorphisms were not associated with risk of ROP. Conclusion: FVL G1691A polymorphism may be risk factor for development of ROP in neonates. However, there was no significant association between MTHFR C677T and A1298C polymorphisms and risk of ROP. However, it is critical that larger and well-designed studies in different ethnicities are needed to confirm our conclusions.

scholarly journals PREVALENCE OF MTHFR GENE 677C>T POLYMORPHISM IN THE PATIENTS WITH PSORIASIS VULGARIS

2021 ◽  
Vol 27 (2) ◽  
pp. 3707-3711
Author(s):  
Borislav Dimitrov ◽  
◽  
Dimitar Gospodinov ◽  
Veronika Gincheva ◽  
Regina Komsa-Penkova ◽  
...  
Keyword(s):  
Psoriasis Vulgaris ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Mthfr Polymorphism ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Pasi Score ◽  
Bulgarian Population ◽  
Relationship Of ◽  
The Relationship

The study aimed to investigate the relationship between carriage of 677C>T polymorphism in the gene of methylene tetrahydrofolate reductase (MTHFR) and plaque psoriasis in patients in Bulgaria. We examined the prevalence of MTHFR C677T genotype in patients with psoriasis, as well as the relationship of the polymorphism with disease severity. Our study covered63 patients with psoriasis and 98psoriasis-free control subjects from northern Bulgaria. MTHFR677C>T genotype was verified by the PCR-RFLP method. There was no significant difference between carriage of TT genotype among the patients and controls: 12.7% versus 10.8 %in controls, OR 1.203, (CI 95% 0465-3.175), p>0.05 respectively. There was a higher PASI score in patients, carriers of TT genotype of MTHFR polymorphism 677C>T than in non-carriers, 28.18versus 24.87 respectively, but not significant. Conclusion: Carriage of TT genotype of MTHFR polymorphism 677C>T was not associated with Psoriasis Vulgaris in the northern Bulgarian population when compared to healthy controls.

A case-control study investigating the effect of MTHFR C677T variant on performance of elite athletes

2020 ◽  
Vol 20 ◽  
Author(s):  
Ayse Feyda Nursal ◽  
Serbulent Yigit ◽  
Husniye Rustemoglu ◽  
Abdullah Cenikli
Keyword(s):  
Athletic Performance ◽  
Methylenetetrahydrofolate Reductase ◽  
Elite Athletes ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Control Group ◽  
Genotype Distribution ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Strength Of Association

Objective: Increased level of plasma homocysteine (Hcy) is a potential risk factor for several multi-system diseases. The Methylenetetrahydrofolate reductase (MTHFR) gene C677T variant has been established as an important genetic determinant of hyperhomocysteinemia. There are conflicting reports about the effects of physical activity on plasma Hcy. Therefore, the main aim of this study was to investigate whether the MTHFR C677T variant affects the elite athletic performance. Methods: This study was carried out on 214 individuals (114 elite athletes and 100 sedentary controls). Genotyping was performed using PCR- RFLP method. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. Results: There was a significant difference between the athletes and the control group in genotype distribution and allele frequency of the MTHFR C677T variant. MTHFR C677T CC genotype and C allele were more prevalent in elite athletes than those in the sedentary controls (p =0.007, OR: 2.16, 95%:1.26-3.70; p=0.009, OR: 1.84, 95%:1.18-2.89, respectively). The control group had a higher MTHFR C677T CT genotype than the athletes had (p=0.019, OR: 0.51, 95%:0.30-0.88). There was no deviation from HWE for the MTHFR C677T variant in the groups. Conclusion: Our findings support that there is an association between the MTHFR C677T C allele and athletic performance among the elite Turkish athletes.

scholarly journals MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Elif Funda Sener ◽  
Didem Behice Oztop ◽  
Yusuf Ozkul
Keyword(s):  
Autism Spectrum Disorders ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Autistic Children ◽  
Dsm V ◽  
Pcr Rflp ◽  
Spectrum Disorders ◽  
Genetic And Environmental Factors

Aim. Autism is a subgroup of autism spectrum disorders, classified as a heterogeneous neurodevelopmental disorder and symptoms occur in the first three years of life. The etiology of autism is largely unknown, but it has been accepted that genetic and environmental factors may both be responsible for the disease. Recent studies have revealed that the genes involved in the folate/homocysteine pathway may be risk factors for autistic children. In particular, C677T polymorphism in the MTHFR gene as a possible risk factor for autism is still controversial. We aimed to investigate the possible effect of C677T polymorphism in a Turkish cohort. Methods. Autism patients were diagnosed by child psychiatrists according to DSM-IV and DSM-V criteria. A total of 98 children diagnosed as autistic and 70 age and sex-matched children who are nonautistic were tested for C677T polymorphism. This polymorphism was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. Results. MTHFR 677T-allele frequency was found to be higher in autistic children compared with nonautistic children (29% versus 24%), but it was not found statistically significant. Conclusions. We conclude that other MTHFR polymorphisms such as A1298C or other folate/homocysteine pathway genes may be studied to show their possible role in autism.

scholarly journals Association of the MTHFR C677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population

2016 ◽  
Vol 19 (1) ◽  
pp. 51-62 ◽  
Author(s):  
M Irfan ◽  
M Ismail ◽  
M Azhar Beg ◽  
A Shabbir ◽  
A Rashid Kayani ◽  
...  
Keyword(s):  
Male Infertility ◽  
Fragment Length Polymorphism ◽  
Mthfr C677t ◽  
Male Population ◽  
Pakistani Population ◽  
Infertile Men ◽  
Pcr Rflp ◽  
Combined Genotypes ◽  
Polymerase Chain ◽  
677T Allele

AbstractThe present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the MTHFR C677T polymorphism. After ruling out non genetic factors, a total of 437 idiopathic infertile men including 57 azoospermic, 66 oligospermic, 44 asthenozoospermic, 29 teratozoospermic, 20 oligoasthenospermic and 221 infertile normospermic men were recruited. Furthermore, 218 normospermic fertile men, who had two children (or more) were included as controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine MTHFR C677T (rs1801133) polymorphism. A significant association of the minor MTHFR 677T allele with male infertility was observed (p <0.05). In addition, men with MTHFR 677 CT and TT genotypes were at a greater risk [odds ratio (OR): 1.81, 95% confidence interval (95% CI): 1.17-2.80, p = 0.008 and OR: 9.24, 95% CI: 1.20-70.92, p = 0.032, respectively] of infertility. All the subgroups of male infertility (azoospermic, oligospermic, asthenospermic, oligoasthenoteratospermic (OAT) and normospermic infertile) had significantly (p <0.05) higher frequencies of CT and TT genotypes when compared to fertile men. The combined genotypes (CT + TT) were also found significantly (OR: 2.01, 95% CI: 1.31-3.08, p <0.001) associated with male infertility. The results suggest that the polymorphism might be a factor of male infertility in the Pakistani population.

scholarly journals Relationship of MTHFR and ACE gene Variations with Migraine Susceptibility: A Case-Control Study in the Population of North India (Jammu)

2018 ◽  
Vol 15 (4) ◽  
pp. 851-860
Author(s):  
Raman Jasrotia ◽  
Jyotdeep K. Raina ◽  
Minakshee Sharma ◽  
Rakesh K. Panjaliya ◽  
B.R. Kundal ◽  
...  
Keyword(s):  
Mthfr C677t ◽  
Mthfr Gene ◽  
North India ◽  
Positive Role ◽  
Mthfr C677t Polymorphism ◽  
Ace Gene ◽  
Pcr Rflp ◽  
Allele Variant ◽  
Relationship Of

Disturbance in vascular functioning pathways has been related to pathophysiology of migraine. The present study investigated the role of MTHFR C677T and ACE I/D gene polymorphisms in migraine susceptibility within the population of Jammu province of J&K state. A sum of 252 subjects including 102 migraine patients and 150 non-migrainous unrelated healthy controls were enrolled for the present study. PCR-RFLP was performed for determining MTHFR gene variations. For detecting insertion/deletion in ACE gene PCR was performed. In case of MTHFR, ‘T’ allele (variant allele) and TT genotype (variant) was found to be present only in migraine patients but not in controls thereby suggesting its positive role in migraine pathophysiology. For ACE I/D polymorphism, higher frequency of DD genotype (32.35 % vs 15.3 %) and D allele (0.51 vs 0.4) were observed in patients than in controls. Logistic regression analysis revealed a significant association of ACE I/D polymorphism with risk of migraine. However, a direct link of MTHFR C677T polymorphism with migraine risk was not found.

scholarly journals Meta-Prediction of MTHFR Gene Polymorphism and Air Pollution on the Risks of Congenital Heart Defects Worldwide: A Transgenerational Analysis

2018 ◽  
Vol 15 (8) ◽  
pp. 1660 ◽  
Author(s):  
Hsiao-Ling Yang ◽  
Ya-Ling Yang ◽  
Chong Yu ◽  
S. Shiao
Keyword(s):  
Air Pollution ◽  
Congenital Heart ◽  
Heart Defects ◽  
Mthfr C677t ◽  
Study Groups ◽  
Mthfr Gene ◽  
Mthfr Polymorphisms ◽  
Mthfr Gene Polymorphism ◽  
Related Enzyme ◽  
Genetic And Environmental Factors

Congenital heart disease (CHD) is the leading cause of death in children, and is affected by genetic and environmental factors. To investigate the association of air pollution with methylene-tetrahydrofolate reductase (MTHFR) polymorphisms and the risk of CHD, we included 58 study groups of children and parents, with 12,347 cases and 18,106 controls worldwide. Both MTHFR C677T (rs 1801133) and A1298C (rs 1801131) gene polymorphisms were risks for CHD in children with transgenerational effects from their parents. Countries with greater risks of CHD with a pooled risk ratio (RR) > 2 from MTHFR 677 polymorphisms included Germany, Portugal, China, and Egypt for children; and Brazil, Puerto Rico, Mexico, China, and Egypt for mothers. Whereas, countries with greater risk of CHD with RR > 2 from MTHFR 1298 polymorphisms included Taiwan, Turkey, and Egypt for children; and Brazil, China, and Egypt for mothers. Additionally, meta-prediction analysis revealed that the percentages of MTHFR 677TT and TT plus CT polymorphisms together were increased in countries with higher levels of air pollution, with a trend of increased CHD risks with higher levels of air pollution for children (p = 0.07). Our findings may have significant implications for inflammatory pathways in association with MTHFR polymorphisms and future intervention studies to correct for folate-related enzyme deficits resulted from MTHFR polymorphisms to prevent CHDs for future generations.

scholarly journals Effect of polymorphism of Insulin-induced gene 1 (INSIG1) (A4366G) on slaughter characteristics in unproductive Kebumen Ongole Grade cows

2021 ◽  
Vol 19 (2) ◽  
pp. 238
Author(s):  
Slamet Diah Volkandari ◽  
Saiful Anwar ◽  
Ari Sulistyo Wulandari ◽  
Pita Sudrajad ◽  
Indriawati Indriawati ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Carcass Characteristics ◽  
National Standard ◽  
Body Measurement ◽  
Salting Out ◽  
Blood Samples ◽  
Slaughter House ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Genetic And Environmental Factors

<p class="MDPI17abstract"><strong>Objective: </strong>Kebumen Ongole Grade (Kebumen OG) are known as good performance cattle with body weight and body measurement higher than National Standard of Ongole Grade cattle. Productivity is influenced by genetic and environmental factors. <em>Insulin-induced gene-1</em> (<em>INSIG1</em>) gene is one of many genes that are considered important in influencing carcass characteristics and playing an important role in lipid metabolism (adipogenesis and or lipogenesis). So, the aim of this study was to identify of SNP A4366G in <em>INSIG1</em> gene and associated with slaughter characteristics of unproductive Kebumen OG cows.</p><p class="MDPI17abstract"><strong>Methods: </strong>In this study used 44 unproductive Kebumen OG cows from slaughter house in Kebumen. Slaughter characteristics contain of slaughter weight, hot carcass weight and dressing percentage. Three milliliters of blood samples were collected from <em>vena jugularis</em>. DNA were extracted from blood samples using salting out method. Genotyping of <em>INSIG1</em> gene (A4366G) used PCR-RFLP method with <em>Taq</em>I restriction enzyme. Genetic diversity data in this study were allele and genotype frequencies, heterozygosity, PIC and HWE. Association of genotypes of <em>INSIG1</em> gene with slaughter characteristics were analyzed using ANOVA univariate model.<strong></strong></p><p class="MDPI17abstract"><strong>Results: </strong>Polymorphic of <em>INSIG1</em> (A4366G) gene was found in the unproductive Kebumen OG cows. Three variants of genotypes (AA, AG, GG) with two alleles (A and G) were found with allele frequencies 0.795 for G allele. The population was in equilibrium genetic. Association of slaughter characteristics with genotypes were not significant (p&gt;0.05).<strong></strong></p><p><strong>Conclusions: </strong>Polymorphic of <em>INSIG1</em> gene (A4366G) was found in unproductive Kebumen OG cows population with dominant of G allele. The population was in genetic equilibrium. The association of slaughter characteristics with genotype of <em>INSIG1</em> gene (SNP A4366G) was not significant.</p>

INTERRELATION OF ALLELIC VARIANTS OF HEMOSTASIS SYSTEM GENES ON THE DEVELOPMENT AND COURSE OF LUPUS NEPHRITIS

2019 ◽  
Vol 23 (2) ◽  
pp. 77-81
Author(s):  
E. N. Borisov ◽  
L. V. Ivanitsky ◽  
L. M. Samokhodskaya ◽  
T. N. Krasnova ◽  
E. P. Pavlikova ◽  
...  
Keyword(s):  
Lupus Nephritis ◽  
Mutant Allele ◽  
Impaired Renal Function ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Renal Survival ◽  
Mutant Genotype ◽  
Hemostatic System ◽  
Allelic Variations ◽  
Pai 1

THE AIM: to evaluate the effect of allelic variations in the hemostatic system genes on the development and course of lupus nephritis. PATIENTS AND METHODS. The study analyzed 100 patients with SLE Caucasians. 80 women and 20 men aged 16 to 73 years (mean age 37, ± 14 years). The duration of observation was for 73 patients over 5 years, for 18 – from 1 year to 5 years and for 9 – less than 1 year A rise in the level of creatinine in the blood above or equal to 2 mg / dl was considered a significant sign of impaired renal function. RESULTS. Among the patients included in the study, kidney damage was detected in 61 people (61%). In 33 of them (54.1%), a variant of renal pathology was observed according to the type of rapidly progressive lupus nephritis (BPVN). In patients with BH, mutations in the MTHFR (C677T) gene were statistically significantly more frequent (p = 0.033). The OR for the mutant genotype is 6.146 with 95% CI from 1.692 to 22.326. In patients with PWHD, mutations in the MTHFR (C677T) gene were statistically significantly more frequent (p = 0.031). The OR for the mutant genotype is 1.625 with 95% CI from 1.034 to 4.771. The five-year renal survival in carriers of the mutant allele of the MTHFR gene (C677T) is statistically significantly lower (72.8%) than in patients without this mutation (81.9%) (p = 0.027). Ten-year renal survival in carriers of the mutant allele of the MTHFR gene (C677T) is statistically significantly less (55.6%) than in patients without this mutation (70.5%) (p = 0.016). In patients with BH, mutations in the PAI-1 gene (4G / 5G 675) were statistically significantly more frequent (p = 0.046). OR for mutant genotype – 1.766 with 95% CI from 1.061 to 4.758. CONCLUSION. The mutant alleles of the MTHFR (C677T) and PAI-1 (4G / 5G 675) genes are likely to be associated with the development of BH. Polymorphism of the MTHFR gene (C677T) is associated with an unfavorable course of HH.

IDENTIFYING THE C677T POLYMORPHISM OF MTHFR GENE BY PCR-RFLP TECHNIQUE

2011 ◽  
pp. 28-35
Author(s):  
Keyword(s):  
Internal Control ◽  
Restriction Site ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Mthfr Genotype ◽  
Restriction Digest ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Sequencing Technique ◽  
Volunteer Group

Background: The C677T polymorphism of MTHFR gene is a risk factor of many diseases. This study is aimed at: (1) Improving a PCR-RFLP process with the own designed primers to identify the C677T polymorphism of MTHFR gene. (2) Evaluating the prevalence of the C677T polymorphism of MTHFR gene in volunteer group. Materials and method: DNA samples was extracted from peripheral blood of 60 volunteers. Designing primers by using FastPCR software, then improving PCR technique. Standardizing the optimal conditions of restriction digest by HinfI. Confirming the results of polymorphism by DNA sequencing technique. Results: We designed successfully primers to amplify fragment of MTHFR gene including C677T polymorphism and an obligatory restriction site of HinfI (as internal control). 0.5 µl of HinfI enzyme (10 U/µl) is enough for restriction digest. The MTHFR genotype frequencies were: 71.67 % (677CC); 25% (677CT); and 3.33 % (677TT). Conclusion: We standardized successfully PCR-RFLP technique to identifying C677T polymorphism of MTHFR gene. Keywords: C677T polymorphism, MTHFR gene, PCR-RFLP

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