title: Association between ARNTL (BMAL1) rs2278749 polymorphism T >C and susceptibility to Alzheimer disease in a Chinese population.
abstract: In the present study, we examined whether the ARNTL (BMAL1) rs2278749 T/C polymorphism was associated with the susceptibility to Alzheimer disease (AD). This case-control study examined the genotypes of apolipoprotein E (APOE e4) and BMAL1 rs2278749 T/C using restriction fragment length polymorphism and the TaqMan assay, respectively. A total of 296 unrelated AD patients and 423 control subjects were included. Both in the entire sample and in APOE e4 non-carriers, the prevalence of T carriers in BMAL1 rs2278749 T/C in AD patients was significantly higher than that in control subjects (entire sample: χ(2) = 12.950, P < 0.0001; APOE e4 non-carriers: χ(2) = 13.094, P < 0.0001). Both in the entire sample and in APOE e4 non-carriers, the prevalence of TT genotypes 2278749 in AD patients was also significantly higher than that in control subjects (entire sample: χ(2) = 7.765, P = 0.024; APOE e4 non-carriers: χ(2) = 13.062, P < 0.0001). However, among APOE e4 carriers, the difference in the prevalence of T carriers or TT genotypes in the BMAL1 rs2278749 T/C between patients and control subjects presents was not significant (T carriers: χ(2) = 0.078, P = 0.851 or TT genotypes: χ(2) = 2.576, P = 0.325). Among APOE e4 non-carriers, T carriers in the BMAL1 rs2278749 T/C were associated with a high susceptibility to AD, but among APOE e4 carriers, the association between AD and BMAL1 rs2278749 T/C was not significant.
authors.affiliation: Department of Geriatrics, The West-Hospital of Sichuan University, Chen-Du, Sichuan, Sichuang Province, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Chen
authors.affiliation: Department of Oncology, The Second Hospital of Sichuan, Sichuan, China.
authors.forename: X D
authors.initials: XD
authors.lastname: Peng
authors.affiliation: Department of Geriatrics, The Third Hospital of Mianyang, Mianyang, China.
authors.forename: C Q
authors.initials: CQ
authors.lastname: Huang
authors.affiliation: Department of Geriatrics, The West-Hospital of Sichuan University, Chen-Du, Sichuan, Sichuang Province, China.
authors.forename: X Y
authors.initials: XY
authors.lastname: Hu
authors.affiliation: Department of Geriatrics, The West-Hospital of Sichuan University, Chen-Du, Sichuan, Sichuang Province, China.
authors.forename: X M
authors.initials: XM
authors.lastname: Zhang
mesh_terms: D056930:ARNTL Transcription Factors / Q000235:genetics*; D000483:Alleles; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D056930:ARNTL Transcription Factors; C538960:BMAL1 protein, human; D001057:Apolipoproteins E