Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Estrogen and estrogen receptors are known to play important roles in the pathophysiology of pelvic organ prolapse (POP). We investigated whether estrogen receptor alpha (ERalpha) gene polymorphisms were associated with POP risk by conducting a case-control association study in 88 women with POP and 153 women without POP. Genotypes of the ERalpha (ESR1) gene polymorphisms (rs17847075, rs2207647, rs2234693, rs3798577, and rs2228480) were determined by polymerase chain reaction, followed by restriction fragment length polymorphism analysis. There was significant difference between women with and those without POP in the distribution of the ESR1 rs2228480 genotypes evaluated. By using multivariable logistic regression, age and ESR1 rs2228480 genotype GA were significantly associated with POP risk. Although the sample size of women with POP studied is small, the present study shows that ERalpha genotype may be associated with POP risk.
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PMID:Estrogen receptor alpha polymorphism is associated with pelvic organ prolapse risk. 1838 16

Currently, despite the growing prevalence of female pelvic floor dysfunction, no consensus exists among researchers regarding its etiology and pathogenesis. There is no doubt, however, that this is a multifactorial disorder with a genetic predisposition. The risk for developing pelvic floor dysfunction is determined by the interaction of multiple additive genetic (mutations and/or polymorphic alleles) and environmental factors. This review of the world literature presents a rationale for searching specific molecular genetic factors shaping the structure of the genetic susceptibility to female pelvic floor dysfunction. The pelvic organ prolapse in women has been found to be associated with the rs1800012 polymorphism of the COL1A1 gene, genotype rs1800255-A/A of COL3A1 gene and the rs2228480 polymorphism of ESR1, although this data still controversial and need to be validated in the independent samples. The systematic accumulation of data, their reproduction in different populations and ethnic groups is necessary to further generalize the evidence on the pathogenesis and the functional significance of each gene variant.
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PMID:[Female pelvic floor dysfunction from the perspectives of genetic studies]. 2839 28