Home>>Project Introduction

Participating units

CFAN currently involves seven research centers located in Beijing, Shanghai, Chongqing, Shandong, Shanxi and Liaoning.

Progress of pedigrees enrolling

Familial Alzheimer's disease pedigrees locate throughout the country. In order to recruit participants, researchers in our center were dispatched to provinces of Guangdong, Jiangxi, Hunan, Chongqing, Liaoning, Hebei and Henan et al. Neuropsychological assessments and cerebral MRI were performed, and blood samples were taken for genetic screening. While for pedigrees visiting our center, we also offer free accommodation. Currently our center has collected more than 300 pedigrees, including 60 pedigrees with more than three patients respectively. The largest family is from Jiangxi, with 22 patients and over a hundred family members. Familial Alzheimer's disease pedigrees registration is summarized in Table 1.

Table 1. CFAN Familial Alzheimer's disease pedigrees registration (till March 2015)


Pedigrees No.

Patients No.

Family members No.

Pedigrees with Known mutation













Pedigrees without known?mutation




Pedigrees under genetic screening








Neuropsychological assessments and cerebral MRI were performed on more than 100 family members in over 20 pedigrees, and cerebrospinal fluid biomarkers inspection were taken on nearly 100 members. Diagnosis was made by experienced specialists, and treatment guidance and health education were provided to patients and family members. Known causative gene screening and apolipoprotein E (APOE) gene screening have been performed on more than 200 families and genetic counseling for family members were provided. All these tests are free for pedigrees.

Study in progress

Whole exome sequencing (WES) has been widely used to find causative genes or susceptibility genes of Mendelian diseases and other complex diseases. Using the combination of WES and linkage analysis to study familial Alzheimer's disease may find new causative genes and its pathogenesis.

Genome-wide association study (GWAS) has enabled researchers to determine the location of susceptibility genes. GWAS is having an unprecedented impact on our understanding of genetic disease such as Alzheimer's disease. Until now, we are lacking of Alzheimer's GWAS reports across Asia. Fortunately, Professor Jia and his research group have established a large-scale pre-clinical AD data repository, and have started a Chinese Han population of Alzheimer's disease GWAS study in order to find the inheritance of Alzheimer's disease and new risk genes of Chinese patients with Alzheimer's disease.

Support fund

1.China and Canada Alzheimer's disease and related disorders collaborative research project - The pre-dementia stage of Alzheimer's disease diagnostic biomarker study (81261120571)

2.Beijing municipal administration of hospitals Yangfan program- Neurodegenerative diseases(ZY201301)

3.Beijing institute for brain disorders international transformed neuroscience alliance cooperation seed fund(PXM2014_014226_000006)

4.Major Program of National Natural Science Foundation of China–The role of β-Amyloid metabolism-related gene promoter region variation in the pathogenesis of Alzheimer's disease (30830045)

5.National Natural Science Foundation of China- Establishment and application of familial Alzheimer's disease brain banks (30470615)

6.National Natural Science Foundation of China-Experimental study of Chinese familial Alzheimer's disease pathogenesis (30370494)

7.Major Program of National Natural Science Foundation of China –Molecular genetics and susceptibility gene functional studies of Chinese familial Alzheimer's disease (7071004)

8.Beijing institute for brain disorders research promotion programs (BIBDPXM2014_014226_000016)

9."National key subject of drug innovation" important specialized science and technology item"12thFive Year Plan" implementation plan - Establishment and application of Chinese neuropsychiatric disorders clinical repository (2011ZX09307-001-03)

10."11thFive Year Plan" technology support program - Diagnosis and intervention studies of mild cognitive impairment (2006BAI02B01)

Published articles

1.Zhang Y, Lu L, Jia J, et al. A lifespan observation of a novel mouse model: in vivo evidence supports abeta oligomer hypothesis. PLoS One, 2014, 9(1): e85885.

2.Wang X, Yang Y, Li C, Jia J. A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. Chin Med J (Engl), 2014, 127: 1987-89.

3.Cong L, Jia J, Qin W, Ren Y, Sun Y. Genome-wide analysis of DNA methylation in an APP/PS1 mouse model of Alzheimer's disease. Acta Neurol Belg, 2014, 114: 195-206.

4.Wu L, Rosa-Neto P, Hsiung GY, et al. Early-onset familial Alzheimer's disease (EOFAD). Can J Neurol Sci. 2012 Jul;39(4):436-45.

5.Qin W, Jia J. Down-regulation of insulin-degrading enzyme by presenilin 1 V97L mutant potentially underlies increased levels of amyloid beta 42. Eur J Neurosci, 2008, 27(9):2425-32.

6.Wei C, Jia J, Liang P, Guan Y. Ginsenoside Rg1 attenuates beta-amyloid-induced apoptosis in mutant PS1 M146L cells. Neurosci Lett, 2008, 443(3):145-9.

7.Fang B, Jia L, Jia J. Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells. Neurosci Lett, 2006, 406(1-2):33-7.

8.Jia J, Xu E, Shao Y, Jia J, Sun Y, Li D. One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease. J Alzheimers Dis, 2005, 7(2):119-24.

9.Jia J,Xu E. A study on mutation of 16 and 17 exon of APP gene in familial Alzheimer's disease. Journal of Brain and Nervous Diseases, 2003,11(4):201-4.

10.Fang B, Jia J. Relation between presenilin-1 mutation and pathological changes of Alzheimer disease. Chinese Journal of Clinical Rehabilitation, 2005,9(45):113-5.

11.Shao Y, Jia J, Fang B, Liu X, Sun Y, Dong X. Construction of eukaryotic expression vector containing PS1 and the expression in neuroblastoma cell line SH-SY5Y. Chinese Journal of Laboratory Diagnosis, 2005;9(6):853-6.

12.Wei C, Jia J, Liang P. Experimental study on activity of á-secretase in PS1 mutational transfected cells. Journal of Beijing University of Traditional Chinese Medicine, 2006,29(7):461-4.

13.Wang F, Fang B, Jia J. Establishment and identification of cell lines stable-expressing human wild amyloid precursor protein. Chinese Journal of Contemporary Neurology and Neurosurgery, 2009,9(3):275-9.

14.Cheng Z, Qin W, Jia J. Effects of presenilin-1 V97L mutation on neprilysin expressing in SH-SYSY cell. Chinese Journal of Neurology, 2011,44(3):155-8.

15.Qin W, Zhou A, Zuo X, Wang F, Cheng Z, Jia J. The study on the role of transcription factor GATA binding protein 3 in familial Alzheimer's disease pathogenesis. Chinese Journal of Neurology,2011,44(3):159-62.