Pitx3 Gene Polymorphism and Its Association with Parkinson’s Disease In Pakistani Population.

Abstract

Background: PITX3 is a paired-like homeodomain transcription factor-3, a gene which controls the development of ocular lens and dopaminergic neurons in the midbrain. Previously three major single nucleotide polymorphisms (SNPs) in PITX3 gene have been reported, i.e., rs3758549, rs2281983 and rs4919621. Our goal of study was to determine whether SNP rs4919621 is a risk factor for onset of Parkinson’s disease (PD) in Pakistani population, specifically in KPK region. Method: This multicentered study includes 321 samples (91 cases of Parkinson’s disease and 230 healthy controls) taken from Hayatabad Medical complex, Lady Reading Hospital and other clinics in Peshawar. Samples were also received from Institute of Biomedical Engineering Islamabad. DNA was extracted using modified salting out protocol. PITX3 polymorphism was genotyped using amplification refractory mutation system polymerase chain reaction (ARMS-PCR) method. Chi-square was done to determine the association between PITX3 genotypes and PD. Parkinson’s disease risk was calculated using odds ratio at 95% confidence interval. Hardy-Weinberg equilibrium (HWE) was used to determine genotype distribution in samples. Result: Our study showed significant association between PITX3 gene polymorphism (rs4919621) (p=0.0138) and PD with odds ratio of 0.26. Conclusion: PITX3 SNP rs4919621 is significantly associated with PD but not a risk factor for development of disease. Studies on a larger scale must be conducted to elaborate the risk of PD in patients with PITX3 gene polymorphism.

Pak J Physiol 2020;16(4):21?3