Association analysis of polymorphisms in STARD6 and near ECHDC3 in Alzheimer’s disease patients carrying the APOE ε4 Allele

Background and purpose: Lipid metabolism plays an important role in Alzheimer's disease (AD), and recent evidence suggests that single nucleotide polymorphisms (SNPs) in the StAR-related lipid transfer domain 6 (STARD6) and near the enzyme enoyl CoA hydratase domain containing 3 (ECHDC3) gene are related to plasma lipid levels or lipid traits in AD. Materials and methods: To identify whether the variants in or near the STARD6 and ECHDC3 genes contribute to AD susceptibility, we carried out an association analysis of STARD6 rs10164112 and ECHDC3 rs7920721 in combination with the apolipoprotein E (APOE) e4 allele in a case-control study (278 cases, 509 controls) in China. Results: We identified that SNP rs10164112 in the STARD6 gene was a risk factor associated with AD and the APOE e4 carriers (all P<0.05) after Bonferroni correction. However, multivariate logistic regression analysis indicated that only the minor T allele of STARD6 rs10164112 combined with the APOE e4 allele increased the risk of AD under the additive and dominant models (additive model: P=0.0078, OR=1.988, 95 % CI: 1.198-3.298; dominant model: P=0.0172, OR=2.169, 95% CI: 1.147-4.102). Conclusion: These results suggest that the rs10164112-T allele is not an independent risk factor for AD patients. However, in combination with the APOE e4 allele, the rs10164112-T allele has been found to be a risk factor for AD in the Han Chinese population reported in this study.