Dataset Information

Verification of the Chromosome Region 9q21 Association with Pelvic Organ Prolapse Using RegulomeDB Annotations.

ABSTRACT: Pelvic organ prolapse (POP) is a common highly disabling disorder with a large hereditary component. It is characterized by a loss of pelvic floor support that leads to the herniation of the uterus in or outside the vagina. Genome-wide linkage studies have shown an evidence of POP association with the region 9q21 and six other loci in European pedigrees. The aim of our study was to test the above associations in a case-control study in Russian population. Twelve SNPs including SNPs cited in the above studies and those selected using the RegulomeDB annotations for the region 9q21 were genotyped in 210 patients with POP (stages III-IV) and 292 controls with no even minimal POP. Genotyping was performed using the polymerase chain reaction with confronting two-pair primers (PCR-CTPP). Association analyses were conducted for individual SNPs, 9q21 haplotypes, and SNP-SNP interactions. SNP rs12237222 with the highest RegulomeDB score 1a appeared to be the key SNP in haplotypes associated with POP. Other RegulomeDB Category 1 SNPs, rs12551710 and rs2236479 (scores 1d and 1f, resp.), exhibited epistatic effects. In this study, we verified the region 9q21 association with POP in Russians, using RegulomeDB annotations.

SUBMITTER: Khadzhieva MB

PROVIDER: S-EPMC4546950 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Verification of the Chromosome Region 9q21 Association with Pelvic Organ Prolapse Using RegulomeDB Annotations.

Khadzhieva Maryam B MB Kolobkov Dmitry S DS Kamoeva Svetlana V SV Ivanova Anastasia V AV Abilev Serikbay K SK Salnikova Lyubov E LE

BioMed research international 20150810

Pelvic organ prolapse (POP) is a common highly disabling disorder with a large hereditary component. It is characterized by a loss of pelvic floor support that leads to the herniation of the uterus in or outside the vagina. Genome-wide linkage studies have shown an evidence of POP association with the region 9q21 and six other loci in European pedigrees. The aim of our study was to test the above associations in a case-control study in Russian population. Twelve SNPs including SNPs cited in the ...[more]

PMID: 26347886

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Project description:BackgroundWomen living in resource constrained settings often have limited knowledge of and access to surgical treatment for pelvic organ prolapse. Additionally, little is known about experiences during recovery periods or about the reintegration process for women who do gain access to medical services, including surgery. This study aimed to explore women's experiences related to recovery and reintegration after free surgical treatment for pelvic organ prolapse in a resource-constrained setting.MethodsThe study had a qualitative design and used in-depth interviews in the data collection with a purposive sample of 25 participants, including 12 women with pelvic organ prolapse. Recruitment took place at the University of Gondar Hospital, Ethiopia, where women with pelvic organ prolapse had been admitted for free surgical treatment. In-depth interviews were carried out with women at the hospital prior to surgery and in their homes 5-9 months following surgery. Interviews were also conducted with health-care providers (8), representatives from relevant organizations (3), and health authorities (2). The fieldwork was carried out in close collaboration with a local female interpreter.ResultsThe majority of the women experienced a transformation after prolapse surgery. They went from a life dominated by fear of disclosure, discrimination, and divorce due to what was perceived as a shameful and strongly prohibitive condition both physically and socially, to a life of gradually regained physical health and reintegration into a social life. The strong mobilization of family-networks for most of the women facilitated work-related help and social support during the immediate post-surgery period as well as on a long-term basis. The women with less extensive social networks expressed greater challenges, and some struggled to meet their basic needs. All the women openly disclosed their health condition after surgery, and several actively engaged in creating awareness about the condition.ConclusionsFree surgical treatment substantially improved the health and social life for most of the study participants. The impact of the surgery extended to the communities in which the women lived through increased openness and awareness and thus had the potential to ensure increased disclosure among other women who suffer from this treatable condition.

Dataset Information

Verification of the Chromosome Region 9q21 Association with Pelvic Organ Prolapse Using RegulomeDB Annotations.

Publications

Verification of the Chromosome Region 9q21 Association with Pelvic Organ Prolapse Using RegulomeDB Annotations.

Similar Datasets

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