Abstract:
According to the statistics provided by World Health Organization (WHO), approximately
55 million people are suffering from dementia globally making it a major public health
concern. Alzheimer’s Disease (AD) is the most common cause of dementia constituting
60-70% of cases worldwide. There are various environmental and genetic risk factors that
contribute to the development of AD, among the genetic risk factors, APOE polymorphism
is the major risk factor for AD. There are three isoforms of APOE gene E2, E3, and E4.
The presence of different isoforms of APOE gene in different genotypical combinations
determine how susceptible is the person to developing AD in the future. AD affects the
patient’s quality of life severely and makes even basic chores undoable, therefore it is
imperative for people to be aware of the disease and stay clear of the myths surrounding it.
The present study is the first one to assess the presence of APOE genotype in Pakistani
population with relevance to AD, no study of this sort has been carried out in Pakistan
before. The results showed complete absence of E2 allele in the tested population size. The
most prevalent allele was E3 which was expressed in the form of E3E3 (95%) and E3E4
(5%) genotypes. E4/E4 genotype was also completely absent. In this study, a detailed
survey was also conducted to assess the knowledge of AD in Pakistani people. In certain
non-technical areas, the respondents exhibited good knowledge about the AD, but in the
technical aspects where risk factors, diagnostic criteria and treatment options related to the
disease were involved, the participants displayed poor knowledge, this shows that even the
educated people in Pakistan are unaware about the basic knowledge of the disease. It is
imperative to establish organizations that can create awareness among the masses regarding
AD which is exponentially increasing in Pakistan.
