ABSTRACT
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
Subject(s)
Humans , Female , Male , Adult , Middle Aged , Glaucoma, Open-Angle/genetics , PPAR gamma , Cholesterol 24-Hydroxylase , Polymorphism, Restriction Fragment Length , Polymerase Chain Reaction , GenotypeABSTRACT
Objectives: This study aimed to examine the association of angiotensin-converting enzyme [ACE] and glutathione S-transferase [GST] gene polymorphisms with body mass index [BMI] in hypertensive North Indians
Methods: This case-control study was carried out between May 2013 and November 2014 at the Era's Lucknow Medical College and Hospital, Lucknow, India, and included 378 subjects divided into three groups. One group constituted 253 hypertensive individuals [sustained diastolic blood pressure of >90 mmHg and systolic blood pressure of >140 mmHg] who were subcategorised according to normal [<25 kg/m[2]] or high [>/-25 kg/m[2]] BMI. The third group consisted of 125 age-, gender- and ethnically-matched normotensive controls with a normal BMI. Gene polymorphisms were evaluated by polymerase chain reaction. The genotypic and allelic frequency distribution among both groups were analysed
Results: A significant difference was found between GST theta 1-null and GST mu 1-positive genotype frequencies among the hypertensive overweight/obese individuals and controls [P = 0.014 and 0.033, respectively]. However, no difference was observed in the frequency of ACE polymorphisms. ACE insertion/insertion genotype [P = 0.006], insertion and deletion alleles [P = 0.007 each] and GST theta 1-null and GST theta 1-positive genotypes [P = 0.006 each] were found to differ significantly between hypertensive cases and controls, regardless of BMI
Conclusion: ACE and GST gene polymorphisms were not associated with BMI but were significantly associated with hypertension among the studied group of North Indians