This Article Full Text (OnlineFirst PDF) All Versions of this Article: 1933719108330567v1 16/5/438    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Ferrell, G. Articles by Matthews, C. Search for Related Content PubMed PubMed Citation Articles by Ferrell, G. Articles by Lu, M. Articles by Stoddard, P. Articles by Sammel, M. Articles by Romero, R. Articles by Strauss, J., III Articles by Matthews, C. Pubmed/NCBI databases Gene GEO Profiles HomoloGene UniGene Medline Plus Health Information High Risk Pregnancy Pelvic Support Problems Social Bookmarking                         What's this?

A Single Nucleotide Polymorphism in the Promoter of the LOXL1 Gene and Its Relationship to Pelvic Organ Prolapse and Preterm Premature Rupture of Membranes

^* To whom correspondence should be addressed. E-mail: jfstrauss{at}vcu.edu.

	Abstract

Pelvic organ prolapse and preterm premature rupture of membranes, the 2 conditions which have in common weakening of the tensile strength of tissues, are thought to be caused, in part, by abnormal extracellular matrix synthesis and/or catabolism. We identified a new single nucleotide polymorphism (NT_010194(LOXL1):g.45008784A>C) in the promoter of the LOXL1 gene, which is essential for elastin synthesis. Promoter studies showed that the minor "C" allele had significantly greater activity than the major "A" allele. Case-control studies examined the association of the alleles of this single nucleotide polymorphism with pelvic organ prolapse and preterm premature rupture of membranes. When comparing allele frequencies and genotypes in pelvic organ prolapse cases versus controls, no significant associations were found. A case-control study conducted in African American neonates also found no significant associations between the promoter alleles and preterm premature rupture of membranes. We conclude that a functional single nucleotide polymorphism exists in the promoter region of the LOXL1 gene. Association studies suggest that the promoter single nucleotide polymorphism does not contribute significantly to risk of pelvic organ prolapse or preterm premature rupture of membranes.

First published on January 30, 2009, doi:10.1177/1933719108330567

Reproductive Sciences 2009;16:438.

A more recent version of this article appeared on May 1, 2009


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?