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Egyptian Journal of Medical Human Genetics [The]. 2017; 18 (2): 121-127
en Inglés | IMEMR | ID: emr-188473

RESUMEN

Background: Involvement of genetic factors like gene polymorphisms was found to contribute significantly to development and progression of Primary Open Angle Glaucoma [POAG] in the last few decades


Aim of study: The present study was carried out to investigate association of PPAR-y [rs 0865710] and CYP46A1 [rs754203] gene polymorphism with development of POAG in hypertensive North Indians


Patients and methods: Study included 328 individuals, 226 as POAG cases and 102 controls. PPAR-y and CYP46A1 gene polymorphism was evaluated by polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP]


The genotypic and allelic frequency distribution in patients and controls was analyzed by SPSS [version 12.0]


Results: In CYP46A1 gene polymorphism, TT genotype and T allele were found to be associated with a significantly decreased risk of POAG whereas the CT, CC genotypes and C allele were associated with an increased risk of POAG in both hypertensive and normotensive individuals. In PPAR-y gene polymorphism, only GG genotype was nearly associated with POAG in only hypertensive cases


Conclusions: CYP46A1 [rs754203] gene polymorphism was associated with POAG in both hypertensive and normotensive patients whereas, only GG genotype of PPAR-y [rs!0865710] SNP shows significant association with POAG in hypertensive POAG patients


Asunto(s)
Humanos , Femenino , Masculino , Adulto , Persona de Mediana Edad , Glaucoma de Ángulo Abierto/genética , PPAR gamma , Colesterol 24-Hidroxilasa , Polimorfismo de Longitud del Fragmento de Restricción , Reacción en Cadena de la Polimerasa , Genotipo
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