Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039483 (giant cell arteritis)
 3,204 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Genetic variants of the neuronal sortilin-related receptor (SORL1) have been demonstrated to modulate the risk of Alzheimer's disease (AD) in different American and European populations [Rogaeva, E., Meng, Y., Lee, J.H., Gu, Y., Kawarai, T., Zou, F., Katayama, T., Baldwin, C.T., Cheng, R., Hasegawa, H., Chen, F., Shibata, N., Lunetta, K.L., Pardossi-Piquard, R., Bohm, C., Wakutani, Y., Cupples, L.A., Cuenco, K.T., Green, R.C., Pinessi, L., Rainero, I., Sorbi, S., Bruni, A., Duara, R., Friedland, R.P., Inzelberg, R., Hampe, W., Bujo, H., Song, Y.Q., Andersen, O.M., Willnow, T.E., Graff-Radford, N., Petersen, R.C., Dickson, D., Der, S.D., Fraser, P.E., Schmitt-Ulms, G., Younkin, S., Mayeux, R., Farrer, L.A., St George-Hyslop, P., 2007. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat. Genet. 39 (2), 168-177]. We conducted haloptype analysis involving two genetic clusters of SORL1 in AD and controls among Han Chinese. rs3824968 (SNP 23) was associated with an increased risk of AD, and there was a trend towards association for rs1699102 (SNP 22) and rs2282649 (SNP 24). More robust associations were found for three-loci haplotypes. In particular, the GCA haplotype at SNPs 19-22-23 was associated with an increased risk (odds ratio 1.4), and CTC haplotype at SNPs 19-22-23 and TCT at SNPs 22-23-24 a decreased risk (odds ratio 0.67) of AD. The complete absence of some at-risk North European haplotypes in our Chinese study subjects was likely due to different ancestral origins, with allelic heterogeneity among races. However, our study suggests that certain SORL1 haplotypes at SNPs 19-24 modulated risk of AD in our Chinese population.
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PMID:SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese. 1806 22