@article {Cheng129, author = {D Cheng and R Huang and I S Lanham and H M Cathcart and M Howard and E H Corder and S E Poduslo}, title = {Functional interaction between APOE4 and LDL receptor isoforms in Alzheimer{\textquoteright}s disease}, volume = {42}, number = {2}, pages = {129--131}, year = {2005}, doi = {10.1136/jmg.2004.024968}, publisher = {BMJ Publishing Group Ltd}, abstract = {Background: Multiple genes have been provisionally associated with Alzheimer{\textquoteright}s disease, including the coding polymorphisms in exons 8 and 13 in the low density lipoprotein receptor gene (LDLR), situated on chromosome 19p13.2. Methods: The sample groups consisted of 180 AD patients and 141 control spouses. We carried out genotyping of LDLR8 and LDLR13. Results: The LDLR8 GG genotype was common, found in 84\% of the unaffected control subjects and 91\% of the AD patients in our study. There was a ninefold elevation in risk associated with GG:CC versus A{\textendash} and T{\textendash} among APOE4+ subjects when compared with APOE4- subjects (odds ratio 9.3; 95\% confidence interval 1.8 to 48.2). With the additional information on LDLR polymorphism, we defined an overall 12 fold elevation in risk for APOE4 in combination with LDLR GG:CC (11.9; 2.8 to 50.0; Fisher{\textquoteright}s exact test, pā€Š=ā€Š0.0002; standard power 0.999), compared with other subjects lacking all three of these polymorphisms. Conclusion: These results imply a functional interaction between ApoE and LDL receptor proteins that determines risk for Alzheimer{\textquoteright}s disease.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/42/2/129}, eprint = {https://jmg.bmj.com/content/42/2/129.full.pdf}, journal = {Journal of Medical Genetics} }