Sun Ju Chung1, Mi-Jung Kim2, Young Jin Kim3, Juyeon Kim3, Sooyeoun You4, Eun Hye Jang3, Seong Yoon Kim5, Jae-Hong Lee3. 1. Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address: sjchung@amc.seoul.kr. 2. Department of Neurology, Bobath Memorial Hospital, Seongnam, Republic of Korea. 3. Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. 4. Department of Neurology, Dongsan Medical Center, Keimyung University, Daegu, Republic of Korea. 5. Department of Psychiatry, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
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). CONCLUSION: Our results suggest that CR1, ABCA7, and APOE correlate with specific aspects of cognitive impairments in AD patients.
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 ADpatients. 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 ADpatients: 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). CONCLUSION: Our results suggest that CR1, ABCA7, and APOE correlate with specific aspects of cognitive impairments in ADpatients.
Authors: Neha Sinha; Zachariah M Reagh; Nicholas J Tustison; Chelsie N Berg; Ashlee Shaw; Catherine E Myers; Diane Hill; Michael A Yassa; Mark A Gluck Journal: Hippocampus Date: 2018-12-10 Impact factor: 3.899
Authors: Selma M Soyal; Markus Kwik; Ognian Kalev; Stefan Lenz; Greta Zara; Peter Strasser; Wolfgang Patsch; Serge Weis Journal: Mol Genet Genomic Med Date: 2020-05-30 Impact factor: 2.183