https://transhumanist.ru/index.php?action=history&feed=atom&title=ECE2 2026-04-09T13:43:31Z История изменений этой страницы в вики MediaWiki 1.43.6 https://transhumanist.ru/index.php?title=ECE2&diff=5158&oldid=prev 2021-05-12T13:31:45Z

<p>Новая страница: «Endothelin-converting enzyme 2 (EC 3.4.24.71) (ECE-2) [KIAA0604] [UNQ403/PRO740] ==Publications== {{medline-entry |title=The role of <a href="/ECE1" title="ECE1">ECE1</a> variants in cognit...»</p> <p><b>Новая страница</b></p><div>Endothelin-converting enzyme 2 (EC 3.4.24.71) (ECE-2) [KIAA0604] [UNQ403/PRO740]<br /> <br /> ==Publications==<br /> <br /> {{medline-entry<br /> |title=The role of [[ECE1]] variants in cognitive ability in old age and Alzheimer&#039;s disease risk.<br /> |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/22693153<br /> |abstract=The β-amyloid peptide may play a central role in Alzheimer&#039;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&#039;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 &lt; P &lt; 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 &lt; 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&gt;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.<br /> |mesh-terms=* Aged<br /> * Aging<br /> * Alzheimer Disease<br /> * Amyloid beta-Peptides<br /> * Aspartic Acid Endopeptidases<br /> * Cognition<br /> * Cohort Studies<br /> * Endothelin-Converting Enzymes<br /> * Female<br /> * Genetic Predisposition to Disease<br /> * Humans<br /> * Male<br /> * Meta-Analysis as Topic<br /> * Metalloendopeptidases<br /> * Middle Aged<br /> * Neuropsychological Tests<br /> * Phenotype<br /> * Polymorphism, Single Nucleotide<br /> * Promoter Regions, Genetic<br /> * Proteolysis<br /> * Risk Factors<br /> <br /> |full-text-url=https://sci-hub.do/10.1002/ajmg.b.32073<br /> }}</div>

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