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Full-Text Articles in Medicine and Health Sciences
No Association Of Tachykinin Receptor 2 (Tacr2) Polymorphisms With Alzheimer's Disease, Patricia Friedrich, T Feulner, Simon Laws, Klaus Eckart, R Perneczky, Alexander Kurz, H Forstl, Matthias Riemenschneider
No Association Of Tachykinin Receptor 2 (Tacr2) Polymorphisms With Alzheimer's Disease, Patricia Friedrich, T Feulner, Simon Laws, Klaus Eckart, R Perneczky, Alexander Kurz, H Forstl, Matthias Riemenschneider
Simon Laws
The Tachykinin Receptor 2 (TACR2) located at chromosome 10q21.3 belongs to a class of receptors that bind members of the tachykinin neurotransmitter family. The TACR2 binds neurokinin A, also known as substance K, and is expressed in distinct parts of the human brain. Functionally, the TACR2 has been implicated in stress induced hippocampal acetylcholine release and the gene TACR2 is located within a previously identified linkage region for Alzheimer’s disease (AD) on chromosome 10q21. Together, both facts make the TACR2 a reasonable positional and functional candidate gene for AD. Genotyping of 13 single nucleotide polymorphisms (SNPs) covering the entire gene …
Examination Of The Current Top Candidate Genes For Ad In A Genome-Wide Association Study, T Feulner, Simon Laws, Patricia Friedrich, S Wagenpfeil, S Wurst, K Kuhn, M Krawczak, S Schreiber, S Nikolaus, Hans Foerstl, Alexander Kurz, Matthias Riemenschneider
Examination Of The Current Top Candidate Genes For Ad In A Genome-Wide Association Study, T Feulner, Simon Laws, Patricia Friedrich, S Wagenpfeil, S Wurst, K Kuhn, M Krawczak, S Schreiber, S Nikolaus, Hans Foerstl, Alexander Kurz, Matthias Riemenschneider
Simon Laws
With the advent of technologies that allow simultaneous genotyping of thousands of singlenucleotide polymorphisms (SNPs) across the genome, the genetic contributions to complex diseases can be explored at an unprecedented detail. This study is among the first to apply the genome-wide association study (GWAS) approach to Alzheimer disease (AD). We present our GWAS results from the German population for genes included in the ‘Top Results’ list on the AlzGene database website. In addition to the apolipoprotein E locus, we identified nominally significant association signals in six of the ten genes investigated, albeit predominantly for SNPs other than those already published …
No Association Of Lipase C Polymorphisms With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, T Eisele, Alexander Kurz, H Forstl, Matthias Riemenschneider
No Association Of Lipase C Polymorphisms With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, T Eisele, Alexander Kurz, H Forstl, Matthias Riemenschneider
Simon Laws
Hepatic lipase, also known as hepatic triglyceride lipase (LIPC), much like the major genetic risk factor for Alzheimer’s disease (AD), apolipoprotein E (APOE), is associated with altered lipid metabolism. As such this link makes LIPC a potential functional candidate for AD risk. Previously, three single nucleotide polymorphisms (SNPs) have been investigated in AD with a lack of association reported. To rule out a possible contribution of other variants in LIPC, located at 15q21-q23, we used a detailed fine mapping approach in a German case–control sample. Genotyping of 25 single nucleotide polymorphisms covering the complete LIPC gene and haplotypic analysis revealed …
Lack Of Evidence To Support The Association Of Polymorphisms Within The Alpha- And Beta-Secretase Genes (Adam10/Bace1) With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, Alexander Kurz, H Forstl, Matthias Riemenschneider
Lack Of Evidence To Support The Association Of Polymorphisms Within The Alpha- And Beta-Secretase Genes (Adam10/Bace1) With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, Alexander Kurz, H Forstl, Matthias Riemenschneider
Simon Laws
Cleavage of the amyloid precursor protein (APP) occurs through either an amyloidogenic or a non-amyloidogenic pathway. The first results in the generation of beta-amyloid (A ) and is initiated through cleavage by the beta-site amyloid beta A4 precursor protein-cleaving enzyme 1 (BACE1). The second precludes the formation of A through cleavage by alpha-secretase, an enzyme’s activity demonstrated in a disintegrin metalloproteinase, ADAM10. To assess the contribution of variants in the BACE1 and ADAM10 genes we used a detailed fine mapping approach. Genotyping of 11 single nucleotide polymorphisms covering the complete BACE1 gene, and 27 covering the entire ADAM10 gene, revealed …