Genetic polymorphisms of ACE2 G8790A (rs2285666) and Apo E (rs 121918398) in Alzheimer's disease among cohort of Egyptian patients: Relation to disease susceptibility and severity

Desoky, Tarek; Hassan, Mohammed H.; Elbeh, Khaled Ahmed; Abbas, Mohamed Abdala; El-Sawy, Samer A.; Sakr, Shimaa Fathy; Bekiet, Mahmoud Ahmed; Mohamed, Reham Bakry; Hefny, Mohamed Moslem

doi:10.21608/svuijm.2024.307257.1942

Genetic polymorphisms of ACE2 G8790A (rs2285666) and Apo E (rs 121918398) in Alzheimer's disease among cohort of Egyptian patients: Relation to disease susceptibility and severity

Document Type : Original research articles

Authors

¹ Psychiatry Department; Faculty of Medicine; South Valley University; Qena 83523, Egypt

² Department of Medical Biochemistry , Faculty of Medicine, South Valley University, Qena, Egypt

³ Psychiatric Department, Faculty of Medicine, Assuit University; Assiut 71525, Egypt

⁴ Neurology Department; Faculty of Medicine, Luxor University; Luxor 85951, Egypt

⁵ Department of Restorative Dentistry and Basic Medical Sciences, Faculty of Dentistry, University of Petra, Amman 11196, Jordan. & Department of Medical Biochemistry, Faculty of Medicine, Sohag University, Sohag, Egypt

⁶ Molecular Biology Unit, Medical Technology Center, Medical Research Institute, Alexandria 21131, Egypt.

10.21608/svuijm.2024.307257.1942

Abstract

Background: Multiple family members have been reported to have Alzheimer's disease (AD), according to family and twin studies. Several ApoE genetic variations have been linked to AD because of their involvement in lipid dysregulation. It has been observed that the Angiotensin converting enzyme 2 (ACE2) gene influences the accumulation of β-amyloid peptide (Aβ).
Objectives: To assess the ACE2 G8790A (rs2285666) and Apo E (rs 121918398) SNPs among cohort of Egyptian AD patients and to explore their probable connection to the occurrence and severity of AD.
Patients and methods: This is a case-control research included 50 Egyptian patients with AD and 50 healthy participants. AD patients were assessed using mini-mental state examination. Genetic analysis for ACE2 (rs2285666) SNPs and Apo E (rs 121918398) SNPs was done using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR).
Results: The age, and gender distributions of the study and control groups were matched. Patients with AD were more prevalent in rural areas. In terms of ACE2 genotyping, a higher frequency of AA genotype and A allele in the AD group, indicating their significant association with increased AD risk. They were linked to the severity of the illness as well. Regarding Apo E genotyping, there were statistically frequent (P<0.001) E4 allele and the E3/E4 genotype among the AD group, and were considerably linked to more severe illness.
Conclusion: An ACE2 homozygous mutation with an A allele is thought to be a genetic risk factor and major predictor of the severity of AD. The incidence and severity of AD are significantly predicted by the APO E4 allele.

Keywords