Pitx3 Gene Polymorphism and Its Association with Parkinson’s Disease In Pakistani Population.
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.
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Ioacara S, Popescu AC, Tenenbaum J, Dimulescu DR, Popescu MR, Sirbu A, et al. Acute Myocardial Infarction Mortality Rates and Trends in Romania between 1994 and 2017. International Journal of Environmental Research and Public Health. 2020;17(1):285.
Khoury S, Soleman M, Margolis G, Barashi R, Rozenbaum Z, Keren G, et al. Incidence, characteristics and outcomes in very young patients with ST segment elevation myocardial infarction. Coronary artery disease. 2019;31(2):103-8.
Bates ER. In patients with suspected AMI and LBBB, algorithms based on ECG and troponin data were tested to rule MI in or out. Annals of internal medicine. 2019;171(8):JC47.
Bahall M, Seemungal T, Legall G. Risk factors for first-time acute myocardial infarction patients in Trinidad. BMC public health. 2018;18(1):161.
Cohen E, Margalit I, Shochat T, Goldberg E, Krause I. The relationship between the concentration of plasma homocysteine and chronic kidney disease: a cross sectional study of a large cohort. Journal of nephrology. 2019;32(5):783-9.
Afrose L, Qamar J. Current Trends of Cardiovascular Risk Determinants in Pakistan. Cureus. 2018;10(10).
Esnafoğlu E, Yaman E. Vitamin B12, folic acid, homocysteine and vitamin D levels in children and adolescents with obsessive compulsive disorder. Psychiatry Research. 2017;254:232-7.
Zhang S, Bai Y-Y, Luo L-M, Xiao W-K, Wu H-M, Ye P. Association between serum homocysteine and arterial stiffness in elderly: a community-based study. Journal of geriatric cardiology: JGC. 2014;11(1):32.
Zarich S, Luciano C, Hulford J, Abdullah A. Prevalence of metabolic syndrome in young patients with acute MI: does the Framingham Risk Score underestimate cardiovascular risk in this population? Diabetes Vasc Dis Res. 2006;3(2):103-7.
Schaffer A, Verdoia M, Cassetti E, Marino P, Suryapranata H, De Luca G, et al. Relationship between homocysteine and coronary artery disease. Results from a large prospective cohort study. Thrombosis research. 2014;134(2):288-93.
Fedeli U, Cestari L, Ferroni E, Avossa F, Saugo M, Modesti PA. Ethnic inequalities in acute myocardial infarction hospitalization rates among young and middle-aged adults in Northern Italy: high risk for South Asians. Internal and emergency medicine. 2018;13(2):177-82.
Jafary MH, Samad A, Ishaq M, Jawaid SA, Ahmad M, Vohra EA. Profile of acute myocardial infarction (AMI) in Pakistan. Pakistan Journal of Medical Sciences. 2007;23(4):485.
Javed I, Iqbal MJ, Arshad S, Javed MT, Masood Z. A study on Acute Myocardial Infarction with special reference to age, sex, type of infarct and associated risk factors. Pakistan Journal of Medical Sciences. 2012;28(1):143-8.
Liaquat A, Javed Q. Current Trends of Cardiovascular Risk Determinants in Pakistan. Cureus. 2018;10(10).
Mahajan AM, Gandhi H, Smilowitz NR, Roe MT, Hellkamp AS, Chiswell K, et al. Seasonal and circadian patterns of myocardial infarction by coronary artery disease status and sex in the ACTION Registry-GWTG. International journal of cardiology. 2019;274:16-20.
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