@article{Tayyaba Afzal_Ghazala Kaukab Raja_Maimoona Afzal_Shakeel Ahmad_Nighat Sultana_Umm e Kalsoom_2020, title={Genetic association study of ERBB4 SNP rs1351592 with polycystic ovary syndrome in Pakistani population}, volume={71}, url={https://ojs.jpma.org.pk/index.php/public_html/article/view/2063}, DOI={10.47391/JPMA.1026}, abstractNote={<p>Polycystic ovary syndrome (PCOS) is an oligogenic condition, characterised by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Previously, European and Han Chinese populations identified different susceptibility loci, of which <em>ERBB4</em> (rs1351592) was strongly associated with PCOS. Our study aimed to investigate the association of <em>ERBB4</em> Single Nucleotide Polymorphism (SNP), rs1351592 with PCOS in Pakistani women of Hazara region. Fifty PCOS patients and 14 healthy women were recruited and SNP was replicated using ARMS-PCR and sequencing. The study showed that Luteinising Hormone (LH), Follicle Stimulating Hormone (FSH), and Testosterone (T) were significantly elevated in patients compared to controls (P <0.05). Overall, the frequency of G allele was higher than C allele and the SNP lacked significant association with PCOS.</p> <p>This is the first study demonstrating the association of <em>ERBB4 </em>SNP, rs1351592 with PCOS in Pakistani population. Further research, <strong>Continuous....</strong></p>}, number={1}, journal={Journal of the Pakistan Medical Association}, author={Tayyaba Afzal and Ghazala Kaukab Raja and Maimoona Afzal and Shakeel Ahmad and Nighat Sultana and Umm e Kalsoom}, year={2020}, month={Nov.}, pages={332–335} }