Figure 2
From: Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology
Genetic analysis of the BIN1 locus. (a) Locuszoom view of the imputation analysis in the EADI1 cohort showing the genomic positions of the rs4663105 and rs6733839 SNPs with P<10−4. (b) Measure of luciferase activity in HEK293 and SKNSH-SY5Y cells for the rs4663105 and rs6733839 SNPs. Cells were transfected with the pGl3 promoter vectors containing the common or minor allele of each polymorphism. pGl3 promoter empty vector has been used as reference. The graphs represent the average of three independent experiments. Histograms indicate the means±s.d. (c) LD mapping showing an LD block (from rs11680911 to rs6431223) of 6.7 kb including the most strongly associated SNPs rs4663105 and rs6733839. (d) Locuszoom view of the imputation analysis in the EADI1 cohort showing all polymorphisms identified by sequencing of the 6.7 kb region in 47 AD cases and 47 controls. X denotes the eight new polymorphisms identified by sequencing. The Indel rs59335482 was significantly associated with AD risk with P<10−4. (e) Association of rs59335482 with AD risk in EADI1, GERAD1 and the Flanders–Belgian population. P-values and ORs with the associated 95% confidence interval have been calculated under an additive model using logistic regression models adjusted for age, gender and centers when necessary. (f) Measure of luciferase activity as in b with pGl3 promoter vectors containing the common or minor allele of the rs59335482. The graphs represent the average of three independent experiments. Histograms indicate the means±s.d. *P<0.05; **P<0.001.
