Comprehensive Molecular Evaluation of Transcription Factor 7-like 2, Long Noncoding RNA (ANRIL), and CYP2C19*17 Gene Variants and Their Association with Predisposition and Progression in Stroke Patients.
PMID 41247572 | PMCID PMC12623554 | DOI 10.1007/s10571-025-01625-2 · Cellular and molecular neurobiology · 2025 · View on PubMed ↗
Stroke is a health problem all over the world. It is a primary cause of disability and ranked number two death cause. In kingdom of Saudi Arabia KSA, the prevalence of stroke in the KSA estimated to be more than 40 per 100 thousand in 2021. The incidence of stroke is increasing in KSA. The risk factors for stroke are grouped into modifiable and nonmodifiable. The modifiable risk factors include diabetes, hyperlipidemia physical inactivity, and diet, whereas the nonmodifiable include sex, age, and race/ethnicity. Decreasing the modifiable risk factors reduces the burden of stroke in population. The long noncoding RNAs (LncRNAs) ANRIL is suggested as a biomarker and treatment target for stroke. The Transcription factor 7-like 2 (TCF7L2) has crucial roles in biological and pathological processes such as inflammation, metabolism, and atherosclerosis. In this study, we examined the associations of ANRIL rs1333045 C>T, CYP2C19*17 (C806T, rs12248560C>T, and TCF7L2 rs12255372 G>T with stroke in 100 stroke cases and 100 matched healthy controls from Tabuk population using the amplification refractory mutation system PCR (ARMS-PCR). Results indicated that the T allele of the ANRIL rs1333048 C>T was associated with stroke with Odd ratio (OR) = 1.73, P value-0.0067. Likewise, the GT genotype and the T allele of the TCF7L2 rs12255372 G>T were associated with stroke with OR = 2.14, P value = 0.01, and 1.9, P value = 0.004, respectively. In addition, the CT genotype and T allele of the CYP2C19*17 (rs12248560) C>T were also associated stroke with OR = 2, P value = 0.02 and OR = 2.3, P value = 0.002, respectively. We conclude that ANRIL rs1333045 C>T, CYP2C19*17 (C806T, rs12248560C>T, and TCF7L2 rs12255372 G>T are potential loci for susceptibility to stroke. This will assist in treatment and/or prevention of cerebrovascular disease.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP2C19 | “Comprehensive Molecular Evaluation of Transcription Factor 7-like 2, Long Noncoding RNA (ANRIL), and CYP2C19*17 Gene Variants and Their Association with Predisposition and Progression in Stroke Patients.” | 0.98 | hgnc_dict_v1 |
| gene | TCF7L2 | “The Transcription factor 7-like 2 (TCF7L2) has crucial roles in biological and pathological processes such as inflammation, metabolism, and atherosclerosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “Comprehensive Molecular Evaluation of Transcription Factor 7-like 2, Long Noncoding RNA (ANRIL), and CYP2C19*17 Gene Variants and Their Association with Predisposition and Progression in Stroke Patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “The modifiable risk factors include diabetes, hyperlipidemia physical inactivity, and diet, whereas the nonmodifiable include sex, age, and race/ethnicity.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | dyslipidemia | “The modifiable risk factors include diabetes, hyperlipidemia physical inactivity, and diet, whereas the nonmodifiable include sex, age, and race/ethnicity.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Tabuk | “In kingdom of Saudi Arabia KSA, the prevalence of stroke in the KSA estimated to be more than 40 per 100 thousand in 2021. In this study, we examined the associations of ANRIL rs1333045 C>T, CYP2C19*17 (C806T, rs12248560C>T, and TCF7L2 rs12255372 G>T with stroke in 100 stroke cases and 100 matched healthy controls from Tabuk population using the amplification refractory mutation system PCR (ARMS-PCR).” | 0.95 | saudi_context_rules_v1 |
| variant | rs1333045 | “In this study, we examined the associations of ANRIL rs1333045 C>T, CYP2C19*17 (C806T, rs12248560C>T, and TCF7L2 rs12255372 G>T with stroke in 100 stroke cases and 100 matched healthy controls from Tabuk population using the amplification refractory mutation system PCR (ARMS-PCR).” | 0.90 | hgvs_regex_v1 |
| variant | rs12255372 | “In this study, we examined the associations of ANRIL rs1333045 C>T, CYP2C19*17 (C806T, rs12248560C>T, and TCF7L2 rs12255372 G>T with stroke in 100 stroke cases and 100 matched healthy controls from Tabuk population using the amplification refractory mutation system PCR (ARMS-PCR).” | 0.90 | hgvs_regex_v1 |
| variant | rs1333048 | “Results indicated that the T allele of the ANRIL rs1333048 C>T was associated with stroke with Odd ratio (OR) = 1.73, P value-0.0067.” | 0.90 | hgvs_regex_v1 |
| variant | rs12248560 | “In addition, the CT genotype and T allele of the CYP2C19*17 (rs12248560) C>T were also associated stroke with OR = 2, P value = 0.02 and OR = 2.3, P value = 0.002, respectively.” | 0.90 | hgvs_regex_v1 |
| variant | C806T | “In this study, we examined the associations of ANRIL rs1333045 C>T, CYP2C19*17 (C806T, rs12248560C>T, and TCF7L2 rs12255372 G>T with stroke in 100 stroke cases and 100 matched healthy controls from Tabuk population using the amplification refractory mutation system PCR (ARMS-PCR).” | 0.82 | literature_variant_regex_v2 |