Investigation of adrenoceptor genes (β2 & β3) in women with polycystic ovary syndrome

Background: Genetic polymorphism is responsible for variations and individual differences. Polymorphism is a major factor of complex diseases with unknown etiology and cancer. Inconsistency in the symptoms of polycystic ovary syndrome (monthly disorder, hirsutism, obesity, diabetes, infertility) is one of the major pathological complications of this syndrome. The present study was conducted to evaluate the polymorphism gene β2 and β3 adrenergic receptors in women with polycystic ovary syndrome. Methods: This cross-sectional study was performed on 200 patients with polycystic ovary syndrome (PCOS) in Imam Khomeini Hospital, Vali-e-Asr Infertile Clinic in Tehran, Iran, from March 2016 to April 2017. Blood samples in two groups (study and control) were obtained for genomics approved by the DNA Company based on the gene bank. Polymerase chain reaction (PCR) samples were extracted and then the primer design was performed by using Primer Express software, version 3.0 (Applied Biosystems, Foster City, CA, USA) and confirmed by using of the primer blast tool at the NCBI site in terms of compliance with the beta 3 adrenergic receptor gene. Analysis of protein changes was performed by using CLUSTALW (https://www.genome.jp/tools-bin/clustalw). Polymorphism was investigated on codons 16, 27, 113 and 164 from the beta2 adrenoceptor gene and codon 64 of the beta3 adrenergic receptor gene. Results: The study of the codon beta2 of adrenoceptors showed that only codon 164 (Thr164Ile) polymorphism (44.4%) was significant (P<0/002) in study group. Homozygote and heterozygote ratios also show a significant difference between the study and control groups (P<0/004). Polymorphism exon 1 in codon 64 of beta3 adrenoceptor; which codes the amino acid tryptophan, indicates that the nucleotide T has changed to C. This finding confirms that mutagenic genotype can raise chance of getting to the polycystic ovary syndrome in women. OR: 2.546 (95% CI: 1.02-5.367) (P=0.012). Conclusion: These results show that polymorphisms of codon 164 (Thr164Ile) of beta2 receptor gene and beta3 adrenergic receptor gene polymorphism Thr164Ile (rs 4994) associate with polycystic ovary syndrome and the risk of PCOS are significantly increased in mutation genotype women.