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

Department of Obstetrics and Gynecology, Virginia Commonwealth University School of Medicine, Richmond, Virginia

Minyan Lu, MD

Department of Obstetrics and Gynecology, Virginia Commonwealth University School of Medicine, Richmond, Virginia

Paul Stoddard, BA

Department of Obstetrics and Gynecology, Virginia Commonwealth University School of Medicine, Richmond, Virginia

Mary D. Sammel, ScD

Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania

Roberto Romero, MD

Perinatology Research Branch, NICHD, Hutzel Hospital, Detroit, Michigan

Jerome F. Strauss, III, MD, PhD

Department of Obstetrics and Gynecology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, jfstrauss{at}vcu.edu

Catherine A. Matthews, MD

Department of Obstetrics and Gynecology, Virginia Commonwealth University School of Medicine, Richmond, Virginia

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.

Key Words: Lysyl oxidase-like 1 • pelvic organ prolapse • preterm premature rupture of membranes • elastin.

This version was published on May 1, 2009

Reproductive Sciences, Vol. 16, No. 5, 438-446 (2009)
DOI: 10.1177/1933719108330567


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