Abstract
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 ERBB4
(rs1351592) was strongly associated with PCOS. Our study
aimed to investigate the association of ERBB4 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.
This is the first study demonstrating the association of
ERBB4 SNP, rs1351592 with PCOS in Pakistani population.
Further research using larger population size will help to
estimate the role of ERBB4 SNP as potential biomarker for
disease diagnosis.
Tayyaba Afzal, Ghazala Kaukab Raja, Maimoona Afzal, Shakeel Ahmad, Nighat Sultana, Umm e Kalsoom. (2021) Genetic association study of ERBB4 SNP rs1351592 with polycystic ovary syndrome in Pakistani population , Journal of the Pakistan Medical Association, Volume 71, Issue 1.
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