Polycystic ovary syndrome (PCOS) is one of the most common
endocrine–metabolic disorders; however, its pathophysiology is
still unclear. Certain polymorphisms of luteinizing hormone betasubunit
(LHb) and LH/choriogonadotrophin receptor (LHCGR)
genes may lead to changes in the bioactivity of this hormone.
We aimed to investigate possible associations between polymorphisms
in the LHb and LHCGR genes and PCOS among Egyptian
women. We also aimed to shed light on the impact of these
polymorphisms on LH level, hormonal, and metabolic features
of PCOS. A case–control study included unrelated 210 patients
with PCOS and 200 healthy controls, and they were stratified
according to their body mass index into two subgroups: lean
and obese. Polymorphisms of LHb G1502A and LHCGR [G935A,
and ins18LQ] genes were genotyped using polymerase chain
reaction–restriction fragment length polymorphism. Our results
revealed that LHb G1052A GA genotype and A allele, LHCGR
G935A GA, AA genotypes, or A allele were significantly associated
with PCOS risk, while the LHCGR ins18LQ polymorphism
was not. Additionally, there is a synergism between LHb G1052A
minor A and minor A allele of LHCGR G935A or minor ins allele
of LHCGR ins18LQ and susceptibility to PCOS. When we stratified
PCOS women or controls into obese and lean subjects, we
found that LHb G1502A GA genotype and A allele being more
frequent in the obese group when compared with lean patients
with PCOS [The odds ratio and 95% confidence interval were 5.6
(1.30–24.56) and 5.15 (1.21–21.90), respectively, P50.01, for each
group.] These results suggested that LHb G1052A and LHCGR
G935A genes polymorphisms are associated with increased risk
of PCOS in Egyptian women especially in obese cases. There
was a synergism between LHb G1052A minor A allele and of
LHCGR G935A minor A or minor ins alleles of LHCGR ins18LQ
and PCOS risk. VC 2015 IUBMB Life, 68(1):23–36, 2016