Abstract

Hiba Aqeel Muslem Al-Quraishy*, Hanaa Addai Ali, Maha Mohammed Kadhim Al-Tu’m and Fadhil Jawad Al-Tu’ma

ABSTRACT

Background: Apoptosis is a kind of programmed cell death that take place within the granulosa cells of ovary, is an essential part of folliculogenesis. So there is greater incidence of apoptosis in polycystic ovary syndrome women. Programmed cell death 1 PDCD1 play important negative regulatory roles in inflammation. A genetic mutation in PD-1 is associated with the incidence and progression of PCOS. Objective: To study the genetic polymorphism of PD-1gene (rs2227982) in Iraqi women with PCOS and explore its role in pathogenesis of the PCOS disease. Materials and Methods: Whole blood samples of 80 PCOS obese patients and 80 healthy people were collected in duration from Dec., 2021 to April, 2022, at the gynecological and obstetric teaching hospital, Kerbala health directorate, Iraq. The Rotterdam criteria-2003 was accepted to PCOS females with age range between (18-40 years). Patients with any 2 of the next 3 items can be identified as PCOS: oligo menorrhea / amenorrhea, increase androgen level, ovarian volume >10mL on U/S, and follicles ?12 with diameter 2-9 mm. Controller group with ages between (18-40 year). They have regular menstruation, with normal ovaries as they were accepted by the gynecologist. BMI and WHR and hormonal status were determined. DNA was extracted and stored at -20 oC until use. Primers designed for PDCD-1gene (rs2227982) based on NCBI database. Genotypes detected using the Taq Man allelic discrimination real-time PCR method. Results: The obese PCOS women had a seriously higher frequency of the PDCD-1 GA/GG genotypes (rs2227982) compared with the controls. PD-1(rs2227982) GA genotype significantly associated together with a higher PCOS frequency. P-value (0.0151), OR (2.728) and PDCD-1gene allele frequencies (rs2227982). An allele had significance P-value (0.0237), OR (2.393) with PCOS patient. Conclusion: Our findings indicates that the PDCD1 (rs2227982) genotype GA is associated with a susceptibility to obese PCOS women and affect the clinical features and pathogenesis. It may be new possible polymorphic loci for PCOS development.