Frequency of rs2282649 and rs12285364 polymorphisms in SORL1 gene and their association with Alzheimer’s disease in Azari population in northwest of Iran

Alzheimer’s disease is the most common cause of dementia in old people. AD is a progressive and irreversible neurodegenerative brain disorder. Sortilin receptor 1 (SORL1) is involved in cellular trafficking of amyloid precursor protein and plays an essential role in amyloid-beta peptide generation in the AD. The purpose of the present study was to evaluate the association of SORL1 rs2282649 and rs12285364 polymorphism with AD in Azeri population in the northwest of Iran.

This case- control study included 100 Alzheimer’s disease patients as our case and 83 healthy subjects as our control group. Genotypes were determined by (PCR- RFLP) technique.

In rs2282649 SNP the frequency of homozygous CC genotype was 36% in the case and 38.55% % in the control groups (P= 0.70). The frequencies of TT genotype were 12% and 7.23% in the case and control groups respectively (P = 0.25). The frequency of heterozygote CT genotype was 52% in the cases and 54.22% in the control group (P = 0.75). Also, in rs12285364 polymorphism the frequencies of homozygous CC genotype in the cases and the control groups were 93% and 90.36 % respectively (P= 0.5). The frequency of TT genotype was 0% in both case and control groups (P = 0.00). The frequencies of heterozygote CT genotype were 7% in the case and 9.64% in the control groups (P = 0.49).            

No statistically significant difference was observed between the case and control groups in regard to the frequencies of the genotypes. Therefore we can conclude that these polymorphisms are not associated with Alzheimer’s disease among the people in the northwest of Iran.