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A polymorphism of the corticotropin-releasing hormone receptor 2 (CRHR2) and preterm birth.

ABSTRACT: Our aim was to investigate whether a genetic variation in the corticotropin-releasing hormone receptor 2 gene might be associated with preterm birth. In this case-control study we evaluated the G/A polymorphism (rs2267717) in intron 2 of the corticotropin-releasing hormone receptor 2 gene in one hundred women with preterm birth and one hundred healthy women with at least one uncomplicated full term pregnancy and no history of preterm birth. No significant correlation was found between the presence of the investigated polymorphism and preterm birth (p=0.9, odds ratio 0.9 [Confidence interval 0.5-1.7]). A dose dependent association of the investigated polymorphism, in women with preterm birth, with gestational age at delivery (p=0.003) and birth weight was observed (p=0.0001). However, no association between IUGR (n=10) with either one of the investigated genotypes (p=0.3) was found. Stratified analysis within case group (i.e. PPROM vs. non-PPROM) revealed no significant difference in genotype distribution (p=0.6). In conclusion, the investigated polymorphism does not increase the risk for preterm birth overall but might modulate the length of pregnancy in a dose dependent fashion in a series of Caucasian women.

SUBMITTER: Schmid M

PROVIDER: S-EPMC3833414 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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A polymorphism of the corticotropin-releasing hormone receptor 2 (CRHR2) and preterm birth.

Schmid Maximilian M Grimm Christoph C Leipold Heinz H Knöfler Martin M Haslinger Peter P Egarter Christian C

Disease markers 20100101 1

Our aim was to investigate whether a genetic variation in the corticotropin-releasing hormone receptor 2 gene might be associated with preterm birth. In this case-control study we evaluated the G/A polymorphism (rs2267717) in intron 2 of the corticotropin-releasing hormone receptor 2 gene in one hundred women with preterm birth and one hundred healthy women with at least one uncomplicated full term pregnancy and no history of preterm birth. No significant correlation was found between the presen ...[more]

PMID: 20164545

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Project description:Corticotropin-releasing hormone (CRH) plays an important role in the pathophysiology of irritable bowel syndrome (IBS) and regulates the stress response through two CRH receptors (R1 and R2). Previously, we reported that a CRHR1 gene polymorphism (rs110402, rs242924, and rs7209436) and haplotypes were associated with IBS. However, the association between the CRHR2 gene and IBS was not investigated. We tested the hypothesis that genetic polymorphisms and haplotypes of CRHR2 are associated with IBS pathophysiology and negative emotion in IBS patients.A total of 142 IBS patients and 142 healthy controls participated in this study. Seven single nucleotide polymorphisms (SNPs) of the CRHR2 gene (rs4722999, rs3779250, rs2240403, rs2267710, rs2190242, rs2284217, and rs2284220) were genotyped. Subjects' psychological states were evaluated using the Perceived-Stress Scale, the State-Trait Anxiety Inventory, and the Self-Rating Depression Scale.We found that rs4722999 and rs3779250, located in intronic region, were associated with IBS in terms of genotype frequency (rs4722999: P = 0.037; rs3779250: P = 0.017) and that the distribution of the major allele was significantly different between patients and controls. There was a significant group effect (controls vs. IBS), and a CRHR2 genotype effect was observed for three psychological scores, but the interaction was not significant. We found a haplotype of four SNPs (rs4722999, rs3779250, rs2240403, and rs2267710) and two SNPs (rs2284217 and rs2284220) in strong linkage disequilibrium (D' > 0.90). We also found that haplotypes of the CRHR2 gene were significantly different between IBS patients and controls and that they were associated with negative emotion.Our findings support the hypothesis that genetic polymorphisms and haplotypes of CRHR2 are related to IBS. In addition, we found associations between CRHR2 genotypes and haplotypes and negative emotion in IBS patients and controls. Further studies on IBS and the CRH system are warranted.

Dataset Information

A polymorphism of the corticotropin-releasing hormone receptor 2 (CRHR2) and preterm birth.

Publications

A polymorphism of the corticotropin-releasing hormone receptor 2 (CRHR2) and preterm birth.

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