PT  - JOURNAL ARTICLE
AU  - D Cheng
AU  - R Huang
AU  - I S Lanham
AU  - H M Cathcart
AU  - M Howard
AU  - E H Corder
AU  - S E Poduslo
TI  - Functional interaction between APOE4 and LDL receptor isoforms in Alzheimer’s disease
AID  - 10.1136/jmg.2004.024968
DP  - 2005 Feb 01
TA  - Journal of Medical Genetics
PG  - 129--131
VI  - 42
IP  - 2
4099  - http://jmg.bmj.com/content/42/2/129.short
4100  - http://jmg.bmj.com/content/42/2/129.full
SO  - J Med Genet2005 Feb 01; 42
AB  - Background: Multiple genes have been provisionally associated with Alzheimer’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– and T– 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’s exact test, p = 0.0002; 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’s disease.