title: Association analysis for the muscarinic M1 receptor genetic polymorphisms and Alzheimer's disease.
abstract: In the ongoing search to reveal the pathophysiology of Alzheimer's disease (AD), the cholinergic system is important due to its role in cognitive function and its significance with respect to the results of postmortem pathology and animal model studies. For this investigation, we tested the hypothesis that the allelic variant (C267A) of the cholinergic receptor muscarinic 1 (CHRM1) confers susceptibility to AD or is related to its age of onset, in a sample population of 232 AD patients and 169 normal controls. The distribution of the CHRM1 genotypes (p = 0.919) and alleles (p = 0.327) did not differ significantly comparing AD patients and controls, even after stratification according to apolipoprotein E genotype. The onset age was not significantly different comparing the CHRM1 genotype groups. Our negative findings suggest that it is unlikely that the CHRM1 C267A polymorphism plays a substantial role in conferring susceptibility to AD. We propose that other genetic variations of CHRM1, relating either to AD or to the therapeutic response for AD, may need further investigation.
authors.affiliation: Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
authors.forename: Hsiu-Chih
authors.initials: HC
authors.lastname: Liu
authors.forename: Chen-Jee
authors.initials: CJ
authors.lastname: Hong
authors.forename: Tsung-Yun
authors.initials: TY
authors.lastname: Liu
authors.forename: Chin-Wen
authors.initials: CW
authors.lastname: Chi
authors.forename: Shih-Jen
authors.initials: SJ
authors.lastname: Tsai
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D004198:Disease Susceptibility; D005260:Female; D015870:Gene Expression / Q000502:physiology; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009483:Neuropsychological Tests; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000235:genetics; D043643:Receptor, Muscarinic M1; D011976:Receptors, Muscarinic / Q000235:genetics*; D013223:Statistics as Topic
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; C086088:CHRM1 protein, human; D012333:RNA, Messenger; D043643:Receptor, Muscarinic M1; D011976:Receptors, Muscarinic