Association of TOMM۴۰, CHAT and SORL۱ Polymorphisms with the Alzheimer’s Disease in the Turkish-speaking Azeri population in Northwest of Iran

     Recent genome-wide association studies have introduced several genetic variants which contribute to the late-onset Alzheimer's disease (LOAD). Polymorphisms of CHAT, TOMM۴۰, and SORL۱ genes have been reported to be associated with the LOAD phenotype. This study was endeavored to evaluate the association of the CHAT rs۳۸۱۰۹۵۰, TOMM۴۰ rs۱۱۶۰۹۸۵ and SORL۱ rs۱۱۲۱۸۳۰۴ polymorphisms with the LOAD in the Turkish-speaking  Azeri population of northwest Iran. In a case-control study, we included ۱۷۴ cases: ۸۸ cases with LOAD diagnosis and ۸۶ healthy individuals. Peripheral blood samples were collected and the genomic DNA of all participants were extracted. Genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We did not observe any significant association between the CHAT rs۳۸۱۰۹۵۰ and SORL۱ rs۱۱۲۱۸۳۰۴ alleles with the LOAD. However, both the TOMM۴۰ rs۱۱۶۰۹۸۵ minor allele T and TT genotype showed significant negative associations with the LOAD. Hence, the TOMM۴۰ rs۱۱۶۰۹۸۵ polymorphism could be considered as a protective genetic factor against the LOAD in the Turkish-speaking Azeri population of northwest Iran.

کلیدواژه ها:

polymorphisms association study ، Alzheimer’s disease ، English ، SORL۱ ، CHAT ، TOMM۴۰ ، Genome-wide association study