Molecular Evaluation of Exon 8 Cystathionine rs5742905T T>C Gene Polymorphism and Determination of its Frequency, Distribution Pattern, and Association with Susceptibility to Coronary Artery Disease in the North Indian Population.
PMID 33719952 | DOI 10.2174/1871529X21666210315121027 · Cardiovascular & hematological disorders drug targets · 2021
BACKGROUND: The protein coded by the cystathionine β synthase (CBS) gene acts as a catalyzer and converts homocysteine to cystathionine. Impairment of the CBS gene leads to homocystinuria by cystathionine β synthase deficiency which is linked to Coronary Artery Disease. A number of polymorphisms studies have been performed on the cystathionine β synthase gene. In the current study, we planned to analyze the influence of CBS T833C gene polymorphism(exon 8 cystathionine rs5742905T T>C), its association with Coronary Artery Disease development, and its progression in the north Indian population. MATERIALS AND METHODS: The present study comprises 100 angiographically confirmed CAD patients and 100 age and sex-matched healthy controls. A total of 50% or more luminal stenosis at one major coronary artery was considered for the inclusion criteria of the cases. The investigation of T833C polymorphism in the CBS gene was performed by PCR- RFLP technique. RESULTS: As a result, we found that homozygous mutant (CC) and heterozygous (TC) genotypes of CBS T833C gene polymorphism were significantly higher in CAD patients than in healthy subjects. We also observed a substantially increased CAD risk in dominant, codominant inheritance, and allele-specific models for the CBS T833C gene polymorphism. We analyzed the differential distribution with respect to disease severity, but there was no significant association (p=0.96). CONCLUSION: In conclusion, this study demonstrates that CBS T833C gene polymorphism plays a key role in developing coronary artery disease and its progression.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CBS | “BACKGROUND: The protein coded by the cystathionine β synthase (CBS) gene acts as a catalyzer and converts homocysteine to cystathionine.” | 0.98 | hgnc_dict_v1 |
| phenotype | coronary artery disease | “Molecular Evaluation of Exon 8 Cystathionine rs5742905T T>C Gene Polymorphism and Determination of its Frequency, Distribution Pattern, and Association with Susceptibility to Coronary Artery Disease in the North Indian Population.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | homocystinuria | “Impairment of the CBS gene leads to homocystinuria by cystathionine β synthase deficiency which is linked to Coronary Artery Disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “MATERIALS AND METHODS: The present study comprises 100 angiographically confirmed CAD patients and 100 age and sex-matched healthy controls.” | 0.80 | saudi_context_rules_v1 |
| variant | T833C | “In the current study, we planned to analyze the influence of CBS T833C gene polymorphism(exon 8 cystathionine rs5742905T T>C), its association with Coronary Artery Disease development, and its progression in the north Indian population.” | 0.82 | literature_variant_regex_v2 |