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2 records shown · first 60The protective effects of the methylenetetrahydrofolate reductase rs1801131 variant among Saudi smokers.
PMID 34220254 | PMCID PMC8241599 | DOI 10.1016/j.sjbs.2021.04.011 · Saudi journal of biological sciences · 2021 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1801131 | “The protective effects of the methylenetetrahydrofolate reductase rs1801131 variant among Saudi smokers.” | 0.90 | hgvs_regex_v1 |
| gene | MTHFR | “Methylenetetrahydrofolate reductase (MTHFR) polymorphism plays a fundamental role in susceptibility to various diseases, including cancers and autoimmune diseases.” | 0.98 | hgnc_dict_v1 |
| gene | CS | “We hypothesized that genetic variations of this gene are responsible for many diseases, particularly those caused by cigarette smoking (CS) such as pulmonary diseases, oral cancer and lung cancer.” | 0.98 | hgnc_dict_v1 |
| gene | TG | “Using chi-squared tests, we found that, among smokers, TG and GG genotype carriers had 0.209-fold (OR = 0.209, P < 0.005) and 0.427-fold (OR = 0.427, P = 0.003) lower risks of CS-related disease compared to TT reference genotypes.” | 0.98 | hgnc_dict_v1 |
Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community.
PMID 31920317 | PMCID PMC6938732 | DOI 10.2147/NDT.S230348 · Neuropsychiatric disease and treatment · 2019 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs1801131 | “Genomic DNA from buccal cells was analyzed for 112 cases and 104 healthy controls using TaqMan genotyping assays of 677C>T rs1801133 and 1298A>C rs1801131 SNPs in the MTHFR gene.” | 0.90 | hgvs_regex_v1 |
| gene | MTHFR | “Here we explored associations between SNPs in the methylenetetrahydrofolate reductase (MTHFR) gene or combined genotypes and the risk of ASD in a Saudi community.” | 0.98 | hgnc_dict_v1 |
| phenotype | autism spectrum disorder | “Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community. Here we explored associations between SNPs in the methylenetetrahydrofolate reductase (MTHFR) gene or combined genotypes and the risk of ASD in a Saudi community. Genomic DNA from buccal cells was analyzed for 112 cases and 104 healthy controls using TaqMan genotyping assays of 677C>T rs1801133 and 1298A>C rs1801131 SNPs in the MTHFR gene. Our study could create reference data for future genetic association studies in the Saudi population and for use by government and health experts to develop regional health management programs.” | 0.95 | saudi_context_rules_v1 |