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12 records shown · first 60Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia.
PMID 39871098 | DOI 10.1691/ph.2024.4601 · Die Pharmazie · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Jeddah | “Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia. Study aim: This study explored the association between MTHFR C677T and A1298C polymorphisms among Saudi MDD patients attending the Erada Complex for Mental Health and Erada Services outpatient clinic in Jeddah, Saudi Arabia. Methods: The study involved 87 MDD patients and 87 control subjects. Results: A significant difference was observed in the distribution of genotype frequencies for MTHFR C677T and A1298C polymorphisms between MDD patients and controls in the Saudi cohort (C677T: P = 0.001; A1298C: P = 0.01) Risk analysis indicated that individuals with the mutant TT genotype of the C677T polymorphism (Odd Ratio (OR) = 6.80, CI 95% = 1.47-31.36, P = 0.01) and the mutant CC genotype of the A1298C polymorphism (OR = 2.64, CI 95% = 1.36-5.13, P = 0.004) are more common in MDD patients, suggesting a higher risk for depression.” | 0.95 | saudi_context_rules_v1 |
| variant | A1298C | “Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia.” | 0.82 | literature_variant_regex_v2 |
Maternal Thrombophilic and Hypofibrinolytic Genetic Variants in Idiopathic Recurrent Pregnancy Loss: a Continuing Mystery.
PMID 35969362 | DOI 10.1007/s43032-022-01063-1 · Reproductive sciences (Thousand Oaks, Calif.) · 2023 · 19 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Thirteen genetic variants, including FV G1691A, FV A4070G, F2 G20210A, F13A1 G103T, FGB - 455G > A, PAI-1 - 675 4G/5G, ITGB3 T1565C, MTHFR C677T, MTHFR A1298C, ACE I/D, APOB G10708A, APOE T388C, and APOE C526T were genotyped using ViennaLab StripAssay.” | 0.82 | literature_variant_regex_v2 |
| gene | F13A1 | “Thirteen genetic variants, including FV G1691A, FV A4070G, F2 G20210A, F13A1 G103T, FGB - 455G > A, PAI-1 - 675 4G/5G, ITGB3 T1565C, MTHFR C677T, MTHFR A1298C, ACE I/D, APOB G10708A, APOE T388C, and APOE C526T were genotyped using ViennaLab StripAssay.” | 0.98 | hgnc_dict_v1 |
| gene | FGB | “Thirteen genetic variants, including FV G1691A, FV A4070G, F2 G20210A, F13A1 G103T, FGB - 455G > A, PAI-1 - 675 4G/5G, ITGB3 T1565C, MTHFR C677T, MTHFR A1298C, ACE I/D, APOB G10708A, APOE T388C, and APOE C526T were genotyped using ViennaLab StripAssay.” | 0.98 | hgnc_dict_v1 |
| gene | ITGB3 | “Thirteen genetic variants, including FV G1691A, FV A4070G, F2 G20210A, F13A1 G103T, FGB - 455G > A, PAI-1 - 675 4G/5G, ITGB3 T1565C, MTHFR C677T, MTHFR A1298C, ACE I/D, APOB G10708A, APOE T388C, and APOE C526T were genotyped using ViennaLab StripAssay.” | 0.98 | hgnc_dict_v1 |
Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment.
PMID 33550905 | PMCID PMC7868620 | DOI 10.5144/0256-4947.2021.1 · Annals of Saudi medicine · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “BACKGROUND: Methylenetetrahydrofolate reductase, the encoded by the MTHFR gene, plays a crucial role in converting the amino acid homocysteine to methionine.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment. SUBJECTS AND METHODS: Healthy Saudi children 6-12 years old with no known allergies were screened for eligibility between May and December 2019. Therefore, caution is advised in using N2O in Saudi children as the increased prevalence of this MTHFR allele may increase the incidence of serious adverse effects among these children. LIMITATIONS: Further studies are recommended with a larger sample size from randomly selected hospitals from different regions of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | A1298C | “Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment.” | 0.82 | literature_variant_regex_v2 |
Methylenetetrahydrofolate Reductase C677T Gene Polymorphism as Risk Factor for Psoriasis in Saudis.
PMID 30828245 | PMCID PMC6390219 | DOI 10.1177/1177271919830973 · Biomarker insights · 2019 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Methylenetetrahydrofolate Reductase C677T Gene Polymorphism as Risk Factor for Psoriasis in Saudis.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Methylenetetrahydrofolate reductase (MTHFR) has been linked with the etiopathogenesis of psoriasis with inconsistent results.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Methylenetetrahydrofolate reductase C677T polymorphism was evaluated in 106 Saudi psoriasis vulgaris patients and 280 matched healthy controls using PCR-RFLP (restriction fragment length plymorphism) technique. It is concluded that the MTHFR C677T polymorphism increases psoriasis risk in Saudi patients.” | 0.95 | saudi_context_rules_v1 |
Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia.
PMID 27766963 | PMCID PMC5073987 | DOI 10.1186/s12881-016-0331-1 · BMC medical genetics · 2016 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.” | 0.98 | hgnc_dict_v1 |
| gene | PGD | “Given the high rate of consanguineous marriages in the Saudi population, these results underline the importance of systematic cytogenetic investigation and genetic counseling preferably at the premarital stage or at least during early pregnancy phase through preimplantation genetic diagnosis (PGD).” | 0.98 | hgnc_dict_v1 |
| phenotype | recurrent pregnancy loss | “BACKGROUND: Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age.” | 0.98 | phenotype_alias_lexicon_v2 |
Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population.
PMID 27585654 | PMCID PMC5009653 | DOI 10.1186/s12886-016-0337-7 · BMC ophthalmology · 2016 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population. Two hundred ten primary glaucoma cases were studied for MTHFR C677T polymorphism and compared with 280 controls taken from the healthy population, employing the polymerase chain reaction-restriction fragment length polymorphism technique (PCR-RFLP). We conclude that the MTHFR C677T polymorphism increases the risk for POAG development in Saudi population and can be a genetic marker however, further studies are needed with multiple-ethnic populations affected with POAG to strengthen these findings.” | 0.95 | saudi_context_rules_v1 |
Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.
PMID 23267299 | PMCID PMC3523778 | DOI 10.12816/0005968 · International journal of health sciences · 2012 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.” | 0.98 | hgnc_dict_v1 |
| phenotype | hypertension | “Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “The same was observed among cases-subgroups of hypertension associated with obesity with a notably higher odds ratio (OR=2.6, 95% CI=1.3-5.01, p=0.004).” | 0.98 | phenotype_alias_lexicon_v2 |
Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population.
PMID 23275730 | PMCID PMC3532010 | DOI 10.6026/97320630081255 · Bioinformation · 2012 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “We performed a study to evaluate the role of three single nucleotide polymorphisms (SNPs), factor V Leiden G1691A (FVL), prothrombin gene mutation G20210A (PRT or FII-G20210A) and methylenotetrahydrofolate reductase variant C677T (MTHFRC677T), as risk factors for G6PD in Saudi populations.” | 0.82 | literature_variant_regex_v2 |
| gene | G6PD | “Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “In the MTHFR gene none of the genotypes or allele frequency cannot show any association OR=1.281, p=.0.667, (95% CI=0.414-3.958) and OR=1.1.172, p=0.800¸ (95% CI=0.343-4.008).” | 0.98 | hgnc_dict_v1 |
| phenotype | glucose-6-phosphate dehydrogenase deficiency | “Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population.” | 0.93 | phenotype_alias_lexicon_v2 |
Polymorphism in methylenetetrahydrofolate reductase, plasminogen activator inhibitor-1, and apolipoprotein E in hemodialysis patients.
PMID 18974580 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2008 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Although allele frequency of C677T of MTHFR was statistically similar in the hemodialysis patients and in the control group, the homozygotes T allele genotype was over represented in the hemodialysis group compared to normal.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “The methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, apolipoprotein E (apo epsilon4) gene polymorphism and polymorphism of plasminogen activator inhibitor-1 (PAI-1) have been shown to be associated with end-stage renal disease (ESRD).” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “The methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, apolipoprotein E (apo epsilon4) gene polymorphism and polymorphism of plasminogen activator inhibitor-1 (PAI-1) have been shown to be associated with end-stage renal disease (ESRD).” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Eastern Province | “To determine the prevalence of these mutations in Saudi patients with ESRD on hemodialysis, we studied the allelic frequency and genotype distribution in patients receiving hemodialysis and in a control group, all residing in the Eastern Province of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East.
PMID 17712558 | DOI 10.1007/s00277-007-0350-2 · Annals of hematology · 2007 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Two common variants in the MTHFR gene (C677T and A1298C) have been associated with reduced enzyme activity, thereby making MTHFR polymorphisms a potential candidate as a cancer-predisposing factor.” | 0.82 | literature_variant_regex_v2 |
| gene | MGMT | “Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East.” | 0.98 | hgnc_dict_v1 |
| gene | FHIT | “Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Methylenetetrahydrofolate reductase (MTHFR) balances the pool of folate coenzymes in one carbon metabolism of deoxyribonucleic acid (DNA) synthesis and methylation; both are implicated in carcinogenesis of many types of cancer including lymphoma.” | 0.98 | hgnc_dict_v1 |
Frequency of methylenetetrahydrofolate reductase C677T polymorphism in patients with cardiovascular disease in Eastern Saudi Arabia.
PMID 16380767 · Saudi medical journal · 2005 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Frequency of methylenetetrahydrofolate reductase C677T polymorphism in patients with cardiovascular disease in Eastern Saudi Arabia.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “OBJECTIVE: Homozygosity for the C677T mutation in the gene of the thermolabile enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) associates with reduced enzyme activity, leading to mild hyperhomocysteinemia.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Eastern Province | “Frequency of methylenetetrahydrofolate reductase C677T polymorphism in patients with cardiovascular disease in Eastern Saudi Arabia. The objective of this study was to determine the prevalence of the C677T mutation in Saudi patients diagnosed with CVD. METHODS: Over a period of 2 years (2003-2004) in a case control study, we determined the prevalence of the C677T mutation in 83 CVD patients and in 40 age and gender-matched controls in the Eastern Province of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia.
PMID 15224376 | DOI 10.1002/ajh.20087 · American journal of hematology · 2004 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia. The prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations were investigated among 87 Saudi sickle cell disease (SCD) patients (38 males and 49 females) and 105 healthy controls (65 males and 40 females).” | 0.95 | saudi_context_rules_v1 |