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

Genetic evidence of multiple loci in dystocia--difficult labour.

Author information

1
Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden. michael.algovik@ltkalmar.se

Abstract

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.

PMID:
20587075
PMCID:
PMC2914646
DOI:
10.1186/1471-2350-11-105
[Indexed for MEDLINE]
Free PMC Article

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