[1] Verheijen J, Sleegers K. Understanding Alzheimer disease at the interface between genetics and transcriptomics. Trends in Genetics,2018: 34(6): 434-447. [2] Harold D, Abraham R, Hollingworth P, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics, 2009, 41(10): 1088-1093. [3] Pericak-Vance M A, Bebout J L, Gaskell P C, et al. Linkage studies in familial Alzheimer disease: Evidence for chromosome 19 linkage. American Journal of Human Genetics, 1991, 48(6): 1034-1050. [4] Farrer L A, Cupples L A, Haines J L, et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: A meta-analysis. Jama, 1997, 278(16): 1349-1356. [5] Kok E H, Luoto T, Haikonen S, et al. CLU, CR1 and PICALM genes associate with Alzheimer's-related senile plaques. Alzheimer's Research & Therapy, 2011, 3(2): 12. [6] Hollingworth P, Harold D, Sims R, et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics, 2011, 43(5): 429-435. [7] Zuk O, Schaffner S F, Samocha K, et al. Searching for missing heritability: Designing rare variant association studies. Proceedings of the National Academy of Sciences, 2014, 111(4): E455-E464. [8] Cruchaga C, Chakraverty S, Mayo K, et al. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLOS ONE, 2012, 7(2): e31039. [9] Reich D E, Lander E S. On the allelic spectrum of human disease. Trends in Genetics, 2001, 17(9): 502-510. [10] Pritchard J K. Are rare variants responsible for susceptibility to complex diseases? The American Journal of Human Genetics, 2001, 69(1): 124-137. [11] Manolio T A, Collins F S, Visscher P M, et al. Finding the missing heritability of complex diseases. Nature, 2009, 461(7265): 747-753. [12] Coventry A, Bull-Otterson L M, Liu X, et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nature Communications, 2010, 1(1): 1-6. [13] Nelson M R, Wegmann D, Ehm M G, et al. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science, 2012, 337(6090): 100-104. [14] Nicolas G, Charbonnier C, Wallon D, et al. SORL1 rare variants: A major risk factor for familial early-onset Alzheimer's disease. Molecular Psychiatry, 2016, 21(6): 831-836. [15] Bellenguez C, Charbonnier C, Grenier-Boley B, et al. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls. Neurobiology of Aging, 2017, 59:220.e1-220.e9. [16] Rice T K, Schork N J, Rao D C. Methods for handling multiple testing. Advances in Genetics, 2008, 60(4): 293-308. [17] Seunggeun L, Wu M C, Lin X. Optimal tests for rare variant effects in sequencing association studies. Biostatistics, 2012, 13(4): 762-775. [18] Seunggeun L, Christian F, Sehee K, et al. An efficient resampling method for calibrating single and gene-based rare variant association analysis in case-control studies. Biostatistics, 2016, 17(1): 1-15. [19] Das S, Forer L, Sidore C, et al. Next-generation genotype imputation service and methods. Nature Genetics, 2016, 48(10): 1284-1287. [20] Thakker R V, Whyte M P, Eisman J A, et al. Genetics of Bone Biology and Skeletal Disease. Salt Lake City, UT: Academic Press, 2017. [21] McCarthy S, Das S, Kretzschmar W, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nature Genetics, 2016, 48(10): 1279-1283. [22] Dijk E V, Auger H, Jaszczyszyn Y, et al. Ten years of next-generation sequencing technology. Trends in Genetics, 2014, 30(9): 418-426. [23] Vrieze S I, Malone S M, Pankratz N, et al. Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes. Psychophysiology, 2014, 51(12): 1300-1308. [24] Wang K, Li M Y, Hakonarson H. ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Research, 2010, 38(16):e164. [25] Spilker C, Sanhueza G, Böckers T M, et al. SPAR2, a novel SPAR-related protein with GAP activity for Rap1 and Rap2. Journal of Neurochemistry, 2008, 104(1): 187-201. [26] Cathy S. Ras signaling in aging and metabolic regulation. Nutrition and Healthy Aging, 2017, 4(3): 195-205. [27] Naylor R M, Baker D J, Deursen V. Senescent cells: A novel therapeutic target for aging and age-related diseases. Clinical Pharmacology & Therapeutics, 2013, 93(1): 105-116. [28] Dimauro T, David G. Ras-induced senescence and its physiological relevance in cancer. Current Cancer Drug Targets, 2010, 10(8): 869-876. |