Studying the Prevalence and Genetic Contributions to Parkinsonism in Pakistan
Author(s)
Primary Supervisor
Mellick, George
Other Supervisors
Wood, Stephen
Year published
2016
Metadata
Show full item recordAbstract
The current study investigated the prevalence and genetics of Parkinsonism and Parkinson’s disease (PD) in the Pakistani population. The prevalence of PD in the Pakistani population is unknown. Similarly, there are no well documented studies on the copy number variation (CNV) or the prevalence of variants such as the G2019S mutation in the LRRK2 gene and the D620N mutation in the VPS35 gene. The Pakistani population is highly consanguineous, which may be advantageous for the identification of variants associated with recessive forms of Parkinsonism. In the present study, we estimated the prevalence rate and assessed mutational ...
View more >The current study investigated the prevalence and genetics of Parkinsonism and Parkinson’s disease (PD) in the Pakistani population. The prevalence of PD in the Pakistani population is unknown. Similarly, there are no well documented studies on the copy number variation (CNV) or the prevalence of variants such as the G2019S mutation in the LRRK2 gene and the D620N mutation in the VPS35 gene. The Pakistani population is highly consanguineous, which may be advantageous for the identification of variants associated with recessive forms of Parkinsonism. In the present study, we estimated the prevalence rate and assessed mutational profiles (including CNV analysis, single nucleotide polymorphism (SNP) genotyping and whole exome sequencing (WES) analysis) in consanguineous Parkinsonism families to discover variants segregating with the disease. We also performed an association analysis for 9 SNPs formerly found to be associated with PD in large-scale published genome-wide association studies (GWAS). For the prevalence estimation, we employed a door-to-door survey in the two districts Dir (Lower) and Malakand of the Khyber Pakhtunkhwa province of Pakistan. A total of four thousand individuals aged 50 and above were screened for PD symptoms with the help of a standard questionnaire developed by Rocca et al (1998). The estimated prevalence rate for Parkinsonism in individuals aged 65 and above was 1.7/100 (95% CI 0.9−2.46), and for PD was 1.28/100 (95%CI 0.6−1.94). For PD, the age standardized rate to the US 2000 standard population was 1.33/100.
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View more >The current study investigated the prevalence and genetics of Parkinsonism and Parkinson’s disease (PD) in the Pakistani population. The prevalence of PD in the Pakistani population is unknown. Similarly, there are no well documented studies on the copy number variation (CNV) or the prevalence of variants such as the G2019S mutation in the LRRK2 gene and the D620N mutation in the VPS35 gene. The Pakistani population is highly consanguineous, which may be advantageous for the identification of variants associated with recessive forms of Parkinsonism. In the present study, we estimated the prevalence rate and assessed mutational profiles (including CNV analysis, single nucleotide polymorphism (SNP) genotyping and whole exome sequencing (WES) analysis) in consanguineous Parkinsonism families to discover variants segregating with the disease. We also performed an association analysis for 9 SNPs formerly found to be associated with PD in large-scale published genome-wide association studies (GWAS). For the prevalence estimation, we employed a door-to-door survey in the two districts Dir (Lower) and Malakand of the Khyber Pakhtunkhwa province of Pakistan. A total of four thousand individuals aged 50 and above were screened for PD symptoms with the help of a standard questionnaire developed by Rocca et al (1998). The estimated prevalence rate for Parkinsonism in individuals aged 65 and above was 1.7/100 (95% CI 0.9−2.46), and for PD was 1.28/100 (95%CI 0.6−1.94). For PD, the age standardized rate to the US 2000 standard population was 1.33/100.
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Thesis Type
Thesis (PhD Doctorate)
Degree Program
Doctor of Philosophy (PhD)
School
School of Natural Sciences
Copyright Statement
The author owns the copyright in this thesis, unless stated otherwise.
Subject
Parkinson’s disease, Pakistan
Genetic diseases,Pakistan