Placenta
Volume 30, Issue 3 , Pages 207-215, March 2009

Connective Tissue and Related Disorders and Preterm Birth: Clues to Genes Contributing to Prematurity

  • E.A. Anum

      Affiliations

    • Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA
    • ,
  • L.D. Hill

      Affiliations

    • Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA
    • ,
  • A. Pandya

      Affiliations

    • Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23298, USA
    • ,
  • J.F. Strauss III

      Affiliations

    • Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA
    • Corresponding Author InformationCorrespondence to: Jerome F. Strauss III, M.D., Ph.D., MCV Campus, Sanger Hall, 1st Floor, Room 1-071, 1101 East Marshall Street, PO Box 980565, Richmond, VA 23298, USA. Tel.: +1 804 828 9788; fax: +1 804 828 7628.

Accepted 16 December 2008. published online 20 January 2009.

Abstract 

To identify candidate genes contributing to preterm birth, we examined the existing literature on the association between known disorders of connective tissue synthesis and metabolism and related diseases and prematurity. Our hypothesis was that abnormal matrix metabolism contributes to prematurity by increasing risk of preterm premature rupture of membranes (PPROM) and cervical incompetence. Based on this review, we identified gene mutations inherited by the fetus that could predispose to preterm birth as a result of PPROM. The responsible genes include COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, TNXB, PLOD1, ADAMTS2, CRTAP, LEPRE1 and ZMPSTE24. Marfan syndrome, caused by FBN1 mutations, and polymorphisms in the COL1A1 and TGFB1 genes have been associated with cervical incompetence. We speculate that an analysis of sequence variation at the loci noted above will reveal polymorphisms that may contribute to susceptibility to PPROM and cervical incompetence in the general population.

Keywords: Connective tissue, Genes, Preterm birth, PPROM, Cervical incompetence

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PII: S0143-4004(08)00437-2

doi:10.1016/j.placenta.2008.12.007

Placenta
Volume 30, Issue 3 , Pages 207-215, March 2009

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