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3 records shown · first 60Genetic Risk Factors and Clinical Implications of Glaucoma in the Saudi Population: A Review.
PMID 42074148 | PMCID PMC13116526 | DOI 10.3390/ijms27083506 · International journal of molecular sciences · 2026 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs12997 | “Third, ACVR1 rs12997 associates across POAG, PACG, and pseudoexfoliation glaucoma (PXG), positioning BMP/TGF-β signaling as a shared mechanistic pathway spanning multiple subtypes.” | 0.90 | hgvs_regex_v1 |
| gene | CYP1B1 | “First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population.” | 0.98 | hgnc_dict_v1 |
| gene | LTBP2 | “Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population.” | 0.98 | hgnc_dict_v1 |
Association of rs12997 variant in the ACVR1 gene: a member of bone morphogenic protein signaling pathway with primary open-angle glaucoma in a Saudi cohort.
PMID 33443061 | DOI 10.1136/jim-2020-001596 · Journal of investigative medicine : the official publication of the American Federation for Clinical Research · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs12997 | “Association of rs12997 variant in the ACVR1 gene: a member of bone morphogenic protein signaling pathway with primary open-angle glaucoma in a Saudi cohort.” | 0.90 | hgvs_regex_v1 |
| gene | ACVR1 | “Association of rs12997 variant in the ACVR1 gene: a member of bone morphogenic protein signaling pathway with primary open-angle glaucoma in a Saudi cohort.” | 0.98 | hgnc_dict_v1 |
| gene | BMP6 | “We investigated the association between variants rs12997 in activin A receptor type I (ACVR1) and rs1043784 in BMP6 located in the 3' untranslated region, and primary open-angle glaucoma (POAG).” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Association of rs12997 variant in the ACVR1 gene: a member of bone morphogenic protein signaling pathway with primary open-angle glaucoma in a Saudi cohort. The retrospective case-control study used TaqMan real-time PCR assay to genotype 400 subjects, including 150 patients with POAG and 250 controls.” | 0.95 | saudi_context_rules_v1 |
Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin.
PMID 32641001 | PMCID PMC7346469 | DOI 10.1186/s12881-020-01076-0 · BMC medical genetics · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs12997 | “Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin.” | 0.90 | hgvs_regex_v1 |
| gene | ACVR1 | “Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin.” | 0.98 | hgnc_dict_v1 |
| gene | BMP6 | “Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin. BACKGROUND: Glaucoma is a polygenic neurodegenerative disease and the second most common cause of blindness in Saudi Arabia. METHODS: In a case-control study, TaqMan® real-time PCR-based genotyping was done in 444 subjects consisting of 250 controls, 101 PACG and 95 PXG cases, and tested for genetic association with glaucoma-types and other clinical phenotypes. CONCLUSIONS: Our results suggest that the polymorphism rs12997 in the ACVR1 gene involved in the BMP signaling pathway is significantly associated with PACG and PXG in a Saudi cohort.” | 0.95 | saudi_context_rules_v1 |