Genetic evidence of multiple loci in dystocia--difficult labour

BMC Med Genet. 2010 Jun 30:11:105. doi: 10.1186/1471-2350-11-105.


Background: Dystocia, difficult labour, is a common but also complex problem during childbirth. It can be attributed to either weak contractions of the uterus, a large infant, reduced capacity of the pelvis or combinations of these. Previous studies have indicated that there is a genetic component in the susceptibility of experiencing dystocia. The purpose of this study was to identify susceptibility genes in dystocia.

Methods: A total of 104 women in 47 families were included where at least two sisters had undergone caesarean section at a gestational length of 286 days or more at their first delivery. Study of medical records and a telephone interview was performed to identify subjects with dystocia. Whole-genome scanning using Affymetrix genotyping-arrays and non-parametric linkage (NPL) analysis was made in 39 women exhibiting the phenotype of dystocia from 19 families. In 68 women re-sequencing was performed of candidate genes showing suggestive linkage: oxytocin (OXT) on chromosome 20 and oxytocin-receptor (OXTR) on chromosome 3.

Results: We found a trend towards linkage with suggestive NPL-score (3.15) on chromosome 12p12. Suggestive linkage peaks were observed on chromosomes 3, 4, 6, 10, 20. Re-sequencing of OXT and OXTR did not reveal any causal variants.

Conclusions: Dystocia is likely to have a genetic component with variations in multiple genes affecting the patient outcome. We found 6 loci that could be re-evaluated in larger patient cohorts.

MeSH terms

  • Adult
  • Dystocia / genetics*
  • Female
  • Genetic Linkage
  • Genetic Loci / genetics*
  • Humans
  • Interviews as Topic
  • Labor, Obstetric / genetics*
  • Oxytocin / genetics
  • Pregnancy
  • Receptors, Oxytocin / genetics
  • Reference Standards
  • Sequence Analysis, DNA
  • Siblings
  • Young Adult


  • Receptors, Oxytocin
  • Oxytocin