rs4305
This is a upstream gene variant variant in the ACE gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Calcium channel blocker use measurement
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶The role ofECE1variants in cognitive ability in old age and Alzheimer's disease riskAssociationN=6,065Gillian Hamilton et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This study evaluated variants in seven amyloid-beta degrading genes (ACE, ECE1, ECE2, IDE, MME, PLAU, TF) for association with Alzheimer's disease (AD) risk and cognitive phenotypes in older adults. In the GERAD1 cohort (3,333 AD cases, 1,225 controls), a four-SNP ECE1 intragenic haplotype (rs212524/rs212525/rs2282714/rs212531) was significantly associated with increased AD risk (OR=1.61, P=0.00035) in APOE ε4 carriers. In the Lothian Birth Cohort 1936 (LBC1936), a two-SNP ECE1 haplotype (rs2282715/rs3026883) was associated with lower non-verbal reasoning scores (β=-0.19, P=0.00036) in APOE ε4 non-carriers. Meta-analysis of four cognitive cohorts confirmed ECE1 promoter region SNPs associated with non-verbal reasoning in APOE ε4 non-carriers. Functional analysis showed the ECE1 rs213045 (338C>A) variant affected promoter activity in neuroblastoma cell lines, suggesting tissue-specific regulation.
▶Polymorphisms in the angiotensin‐converting enzyme gene region predict coping styles in healthy adults and depressed patientsAssociationN=735Angela Heck et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This study investigated associations between 15 SNPs and one insertion/deletion polymorphism in the ACE gene region with coping styles in 541 healthy adults and 194 depressed patients. The strongest association was rs8066276 (intronic SNP) with the Distraction coping factor (adjusted P=0.009, Cohen's f=0.10) in healthy subjects, where T-allele carriers showed significantly lower Distraction scores. rs4305 showed significant association with Devaluation/Defense coping (adjusted P=0.02, f=0.15). These and other ACE polymorphisms were associated with positive (stress-reducing) coping styles in both samples, suggesting the ACE gene is involved in development of adaptive coping strategies.
About ACE
This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]
View all ACE variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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