Редактирование: ECE2

Endothelin-converting enzyme 2 (EC 3.4.24.71) (ECE-2) [KIAA0604] [UNQ403/PRO740]

==Publications==

{{medline-entry
|title=The role of [[ECE1]] variants in cognitive ability in old age and Alzheimer's disease risk.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/22693153
|abstract=The β-amyloid peptide may play a central role in Alzheimer's disease (AD) pathogenesis. We have evaluated variants in seven Aβ-degrading genes (ACE, [[ECE1]], [[ECE2]], [[IDE]], [[MME]], [[PLAU]], and TF) for association with AD risk in the Genetic and Environmental Risk in Alzheimer's Disease Consortium 1 (GERAD1) cohort, and with three cognitive phenotypes in the Lothian Birth Cohort 1936 (LBC1936), using 128 and 121 SNPs, respectively. In GERAD1, we identified a significant association between a four-SNP intragenic [[ECE1]] haplotype and risk of AD in individuals that carried at least one [[APOE]] ε4 allele (P = 0.00035, odds ratio = 1.61). In LBC1936, we identified a significant association between a different two-SNP [[ECE1]] intragenic haplotype and non-verbal reasoning in individuals lacking the [[APOE]] ε4 allele (P = 0.00036, β = -0.19). Both results showed a trend towards significance after permutation (0.05 < P < 0.10). A follow-up cognitive genetic study evaluated the association of [[ECE1]] SNPs in three additional cohorts of non-demented older people. Meta-analysis of the four cohorts identified the significant association (Z < 0.05) of SNPs in the ECE-1b promoter with non-verbal reasoning scores, particularly in individuals lacking the [[APOE]] ε4 allele. Our genetic findings are not wholly consistent. Nonetheless, the AD associated intronic haplotype is linked to the 338A variant of known [[ECE1]]b promoter variant, 338C>A (rs213045). We observed significantly less expression from the 338A variant in two human neuroblastoma cell lines and speculate that this promoter may be subject to tissue-specific regulation.
|mesh-terms=* Aged
* Aging
* Alzheimer Disease
* Amyloid beta-Peptides
* Aspartic Acid Endopeptidases
* Cognition
* Cohort Studies
* Endothelin-Converting Enzymes
* Female
* Genetic Predisposition to Disease
* Humans
* Male
* Meta-Analysis as Topic
* Metalloendopeptidases
* Middle Aged
* Neuropsychological Tests
* Phenotype
* Polymorphism, Single Nucleotide
* Promoter Regions, Genetic
* Proteolysis
* Risk Factors

|full-text-url=https://sci-hub.do/10.1002/ajmg.b.32073
}}