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2 records shown · first 60Methylenetetrahydrofolate 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 | 677C>T | “Genotype associations of 677C>T and 1298A>C were identified in cases compared with controls (P= 0.0012 and P= 0.0008, respectively).” | 0.82 | literature_variant_regex_v2 |
| 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 |
The Saudi Thrombosis and Familial Thrombophilia Registry. Design, rational, and preliminary results.
PMID 19838435 · Saudi medical journal · 2009 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | 677C>T | “The incidence of FVL among healthy subjects was 1.3%, PT 20210 G>A 0.7%, homozygous MTHFR 677C>T 2.45%, PAI 4G/4G 10.1%, and FVHR2 26.1%.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “RESULTS: Nine hundred and two DNA samples of consenting healthy Saudi individuals were tested for factor V Leiden (FVL), prothrombin (PT) 20210 G>A, 5-10 methylenetetrahydrofolate reductase (MTHFR) 677 C>T, the 4G/5G polymorphism of Plasminogen activator inhibitor type 1 (PAI-1 4G/5G), and factor V HR2 (FVHR2) haplotype.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “The Saudi Thrombosis and Familial Thrombophilia Registry. OBJECTIVE: To describe the Registry and report preliminary data for the prevalence of 5 prothrombotic gene mutations in the normal Saudi population. METHODS: Blood from consenting healthy Saudi individuals and patients with venous thrombosis (VT) from different regions of the Kingdom was collected from November 2001 until July 2007. Data generated through direct interview were entered into the Saudi Thrombosis and Familial Thrombophilia (S-TAFT) Register. RESULTS: Nine hundred and two DNA samples of consenting healthy Saudi individuals were tested for factor V Leiden (FVL), prothrombin (PT) 20210 G>A, 5-10 methylenetetrahydrofolate reductase (MTHFR) 677 C>T, the 4G/5G polymorphism of Plasminogen activator inhibitor type 1 (PAI-1 4G/5G), and factor V HR2 (FVHR2) haplotype. CONCLUSION: Our preliminary data from healthy Saudi individuals suggest that the incidence of the 5 prothrombotic risk factors is lower than in most other populations, except for FVHR2.” | 0.95 | saudi_context_rules_v1 |