title: CR1, ABCA7, and APOE genes affect the features of cognitive impairment in Alzheimer's disease.
abstract: BACKGROUND
  The genetic factors that determine the heterogeneity of cognitive impairment in Alzheimer's disease (AD) patients have been rarely reported. We aimed to investigate the association between top hits of genome-wide association studies (GWAS) and specific cognitive domains in AD patients.
  
  
  METHODS
  We investigated 86 single nucleotide polymorphisms (SNPs) selected from 12 genes (ABCA7, APOE, BIN1, CD2AP, CD33, CLU, CR1, EPHA1, LRAT, MS4A6A, PCDH11X, and PICALM) based on results of the recent GWAS and genotyped in 211 AD cases. We also analyzed results of comprehensive neuropsychological evaluations in all cases. We performed multiple regression analyses.
  
  
  RESULTS
  There were four significant associations between genotypes and phenotypes of AD patients: CR1 SNP rs11803956 correlated with Mini-Mental State Examination (MMSE) score (β=1.718, Pcorrected=0.002); ABCA7 SNP rs3752232 correlated with Rey Complex Figure Test (RCFT) copy score (β=-6.861, Pcorrected=0.013); APOE SNP rs2075650 correlated with the percentile of RCFT copy score (β=14.005, Pcorrected=0.021) and the percentile of total score in phonemic fluency (β=11.052, Pcorrected=0.035).
  
  
  CONCLUSIONS
  Our results suggest that CR1, ABCA7, and APOE correlate with specific aspects of cognitive impairments in AD patients.
authors: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address: sjchung@amc.seoul.kr.
authors: Sun Ju
authors: SJ
authors: Chung
authors: Department of Neurology, Bobath Memorial Hospital, Seongnam, Republic of Korea.
authors: Mi-Jung
authors: MJ
authors: Kim
authors: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Young Jin
authors: YJ
authors: Kim
authors: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Juyeon
authors: J
authors: Kim
authors: Department of Neurology, Dongsan Medical Center, Keimyung University, Daegu, Republic of Korea.
authors: Sooyeoun
authors: S
authors: You
authors: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Eun Hye
authors: EH
authors: Jang
authors: Department of Psychiatry, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Seong Yoon
authors: SY
authors: Kim
authors: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors: Jae-Hong
authors: JH
authors: Lee
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011446:Prospective Studies; D017463:Receptors, Complement 3b / Q000235:genetics*
chemical_list: C411895:ABCA7 protein, human; D018528:ATP-Binding Cassette Transporters; D001057:Apolipoproteins E; C509991:CR1 protein, human; D017463:Receptors, Complement 3b
keywords: ABCA7; APOE; Alzheimer's disease; CR1; Phenotype; Single nucleotide polymorphism