Verification of the Chromosome Region 9q21 Association with Pelvic Organ Prolapse Using RegulomeDB Annotations.
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 t...
| Publicado en: | BioMed Research International Vol. 2015; pp. 1 - 10 |
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| Autores principales: | , , , , , |
| Formato: | equations & formulas research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
8/10/2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109149433&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109149433 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23146133 FT2T jtl: BioMed Research International issn: 23146133 maglogo: N pubinfo: dt: 8/10/2015 vid: 2015 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 109149433 109149433 109149433 10.1155/2015/837904 109149433 ppf: 1 ppct: 9 formats: fmt: @attributes: type: P tig: atl: Verification of the Chromosome Region 9q21 Association with Pelvic Organ Prolapse Using RegulomeDB Annotations. aug: au: Khadzhieva, Maryam B. Kolobkov, Dmitry S. Kamoeva, Svetlana V. Ivanova, Anastasia V. Abilev, Serikbay K. Salnikova, Lyubov E. affil: Laboratory of Ecological Genetics, N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, 3 Gubkin Street, Moscow 117971, Russia sug: subj: Pelvic Organ Prolapse Familial and Genetic Genomics Polymorphism, Genetic Pelvic Organ Prolapse Epidemiology Case Control Studies Russia Human Academic Medical Centers Genotype Severity of Illness Female Polymerase Chain Reaction Record Review Alleles Fisher's Exact Test Chi Square Test Logistic Regression Mann-Whitney U Test Multivariate Analysis Data Analysis Software Post Hoc Analysis Body Mass Index Odds Ratio Confidence Intervals Funding Source Female ab: 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. pubtype: Academic Journal doctype: equations & formulas research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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