title: Association between the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) rs4073366 polymorphism and ovarian hyperstimulation syndrome during controlled ovarian hyperstimulation.
abstract: BACKGROUND
  The aim of this study was to determine the relationship between a purported luteinizing hormone/chorionic gonadotropin (LHCGR) high function polymorphism (rs4539842/insLQ) and outcome to controlled ovarian hyperstimulation (COH).
  
  
  METHODS
  This was a prospective study of 172 patients undergoing COH at the Fertility and IVF Center at GWU. DNA was isolated from blood samples and a region encompassing the insLQ polymorphism was sequenced. We also investigated a polymorphism (rs4073366 G > C) that was 142 bp from insLQ. The association of the insLQ and rs4073366 alleles and outcome to COH (number of mature follicles, estradiol level on day of human chorionic gonadotropin (hCG) administration, the number of eggs retrieved and ovarian hyperstimulation syndrome (OHSS)) was determined.
  
  
  RESULTS
  Increasing age and higher day 3 (basal) FSH levels were significantly associated with poorer response to COH. We found that both insLQ and rs4073366 were in linkage disequilibrium (LD) and no patients were homozygous for both recessive alleles (insLQ/insLQ; C/C). The insLQ variant was not significantly associated with any of the main outcomes to COH. Carrier status for the rs4073366 C variant was associated (P = 0.033) with an increased risk (OR 2.95, 95% CI = 1.09-7.96) of developing OHSS.
  
  
  CONCLUSIONS
  While age and day 3 FSH levels were predictive of outcome, we found no association between insLQ and patient response to COH. Interestingly, rs4073366 C variant carrier status was associated with OHSS risk. To the best of our knowledge, this is the first report suggesting that LHCGR genetic variation might function in patient risk for OHSS.
authors.forename: Travis J
authors.initials: TJ
authors.lastname: O'Brien
authors.forename: Mariah M
authors.initials: MM
authors.lastname: Kalmin
authors.forename: Arthur F
authors.initials: AF
authors.lastname: Harralson
authors.forename: Adam M
authors.initials: AM
authors.lastname: Clark
authors.forename: Ian
authors.initials: I
authors.lastname: Gindoff
authors.forename: Samuel J
authors.initials: SJ
authors.lastname: Simmens
authors.forename: David
authors.initials: D
authors.lastname: Frankfurter
authors.forename: Paul
authors.initials: P
authors.lastname: Gindoff
mesh_terms: D000328:Adult; D000375:Aging / Q000502:physiology; D005260:Female; D005787:Gene Frequency; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D016471:Ovarian Hyperstimulation Syndrome / Q000453:epidemiology / Q000235:genetics*; D010062:Ovulation Induction / Q000379:methods*; D011110:Polymorphism, Genetic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D011974:Receptors, LH / Q000235:genetics*
chemical_list: D011974:Receptors, LH