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M. A. Memon, D. Saleheen, A. Ali, P. Froassard, F. Memon, Z. Memon, K. Talpur, S. Jatoi, T. Peto, PRAISE study grounp; Prevalence and Frequency of CFH and LOC387715 Polymorphisms Among Pakistani AMD Cases and Controls. Invest. Ophthalmol. Vis. Sci. 2009;50(13):1595.
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Pakistan Risk of Age-related macular degeneration And Its Serological, Environmental and genetic Determinants study aims to holistically evaluate determinants of development of Age-related Macular Degeneration (AMD) among 5000 cases and 5000 controls in Pakistan. The present study investigates among Pakistani patients the loci widely implicated in the development of AMD: CFH and LOC387715.
300 AMD cases and over 100 controls are to be recruited for the present study from Liaquat University Eye Hospital, Hyderabad, Pakistan by middle of 2009 of which 250 cases and 50 controls have been already recruited and a subset of them analyzed. Fundus photographs are obtained from each participants for grading at the Moorfields Eye Hospital Reading Center, London. DNA is obtained from White blood cells in blood samples of patients which are centrifuged and stored at -80ºC before undergoing sequencing of loci for CFH and LOC387715 genes. During analysis, risk associated with alleles at these loci will be calculated along with linkage disequilibrium frequencies and Population associated risk for associated Single Nucleotide Polymorphisms and their combined effects.
Preliminary analysis of a small subset of participants suggested greater presence of T-allele frequency of rs10490924 in LOC387715 among the cases . Frequency of Y402H variant in CFH was also more prevalent in cases than controls at the time of preliminary analysis. AMD patients with high risk alleles of CFH or LOC387715 also tended to have worse visual acuity than those without them. Further analysis will offer greater insights into the genetic make up of the cases and controls in this study.
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