Dataset Information

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

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.

SUBMITTER: Algovik M

PROVIDER: S-EPMC2914646 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature

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Publications

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

Algovik Michael M Kivinen Katja K Peterson Hanna H Westgren Magnus M Kere Juha J

BMC medical genetics 20100630

<h4>Background</h4>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.<h4>Methods</h4>A total of 104 women in 47 families were included where ...[more]

PMID: 20587075

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Project description:BackgroundLabour dystocia (LD) is associated with maternal and foeto-neonatal complications and increased rate of caesarean section. There are scant studies on predictive factors of labour dystocia in Iran, as well as in other countries. Therefore, this study aimed to identify the predictive factors of LD using an integrated and collaborative pre- and during- labour factors to help formulate more effective intervention strategies for prevention and management of LD.MethodsIn this case-control study, 350 women with and 350 women without LD, matched individually in terms of parity and hospital, were compared. The participants were in active labor, had singleton pregnancy, live foetus with a cephalic presentation, gestational age of 37+ 0-41+ 6 weeks, and were hospitalized for vaginal birth in two teaching hospitals in Tabriz, Iran. Data related to the socio-demographic characteristics, anxiety status (using the Spielberger State Anxiety Inventory), and woman dehydration were collected at cervical dilatation between 4 and 6 cm (before dystocia detection) and the other data at different phases of labour, and after birth (before discharge). The multivariate logistic regression was used to determine the predictors.ResultsThe predictors of LD were severe [OR 58.0 (95% CI 26.9 to 125.1)] and moderate [8.6 (4.2 to 17.4)] anxiety, woman dehydration > 3 h [18.67 (4.0 to 87.3)] and ≤ 3 h [2.8 (1.7 to 4.8], insufficient support by the medical staff in the delivery room [5.8 (1.9 to 17.9)], remifentanil administration [3.1 (1.5 to 6.2)], labour induction [4.2 (2.5 to 7.2], low income [2.0 (1.2 to 3.3)], woman's height < 160 cm [2.0 (1.1 to 3.3)], and woman age of 16-20 y [0.3 (0.2 to 0.6)]. The proportion of the variance explained by all these factors was 74%.ConclusionThe controllable predictors, such as woman anxiety and dehydration, and insufficient support from medical staff during labour were strongly associated with the risk of LD. Therefore, it seems that responding to woman physical, psychological, and supportive needs during labour can play a significant role in LD prevention and control.Ethical codeIR.TBZMED.REC.1397.624.

Project description:Moraxella bovoculi is frequently cultured from the ocular secretions and conjunctiva of cattle with Infectious Bovine Keratoconjunctivitis (IBK). Previous work has shown that single nucleotide polymorphism (SNP) diversity in this species is quite high with 81,284 SNPs identified in eight genomes representing two distinct genotypes isolated from IBK affected eyes (genotype 1) and the nasopharynx of cattle without clinical IBK signs (genotype 2), respectively. The goals of this study were to identify SNPs from a collection of geographically diverse and epidemiologically unlinked M. bovoculi strains from the eyes of IBK positive cattle (n = 183) and another from the eyes of cattle (most from a single population at a single time-point) without signs of IBK (n = 63) and to characterize the genetic diversity. Strains of both genotypes were identified from the eyes of cattle without IBK signs. Only genotype 1 strains were identified from IBK affected eyes, however, these strains were isolated before the discovery of genotype 2, and the protocol for their isolation would have preferentially selected genotype 1 M. bovoculi. The core genome comprised ~74% of the whole and contained >127,000 filtered SNPs. More than 80% of these characterize diversity within genotype 1 while 23,611 SNPs (~18%) delimit the two major genotypes. Genotype 2 strains lacked a repeats-in-toxin (RTX) putative pathogenesis factor and any of ten putative antibiotic resistance genes carried within a genomic island. Within genotype 1, prevalence of these elements was 0.85 and 0.12 respectively in strains from eyes that were IBK positive. Recombination appears to be an important source of genetic diversity for genotype 1 and undermines the utility of ribosomal-locus-based species identification. The extremely high genetic diversity in genotype 1 presents a challenge to the development of an efficacious vaccine directed against them, however, several low-diversity pilin-like genes were identified. Finally, the genotype-defining SNPs described in this study are a resource that can facilitate the development of more accurate M. bovoculi diagnostic tests.

Dataset Information

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

Background

Methods

Results

Conclusions

Publications

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

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