POLYMORPHISM OF CYTOCHROME P450, SUPERFAMILY19, POLYPEPTIDE 1 GENE AND RELATED TO AROMATASE ENZYME ACTIVITY IN ACROMEGALY IRAQI PATIENTS
Keywords:Aromatase activity, Single-nucleotide polymorphism, rs2236722, Active acromegaly
Objective: The objective of the present work was to investigate the association between aromatase enzyme activity and polymorphisms, rs2236722, in exon 2 of cytochrome P450 (CYP), superfamily19, polypeptide 1 (CYP19A1gene) in patients with active acromegaly.
Methods: A total of 120 males and females (age 20-60 years) were enrolled in this study, 60 patients with active acromegaly who have attended the National Diabetes Centre and and Specialist Center for endocrinology and diabetes, Baghdad, from December 2015 to June 2016 and 60 healthy individuals with matches as a control group. From the whole blood, genomic DNA was extracted to perform genotyping analysis and single-nucleotide polymorphism, rs2236722, in the CYP19A1 gene using multiplex polymerase chain reaction technique, and serum aromatase levels were determined using a solid-phase enzyme-linked immunosorbent assay based on sandwich method.
Results: The results show that the aromatase activity levels of patients were a highly significant decrease when contrasted with healthy control groups in both sexes (pâ‰¤0.01), and there were summarized positive results of an allele in single-nucleotide polymorphism, rs2236722, were highly significant in TT allele when contrasted with healthy control groups. While revealed that there was non-significant difference in TC allele when contrasted with healthy control groups (p>0.01).
Conclusion: we conclude that there was associated between CYP19A1 gene polymorphism (rs2236722) with aromatase activity and related to acromegaly patients.
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