Journal
PLACENTA
Volume 30, Issue 3, Pages 207-215Publisher
W B SAUNDERS CO LTD
DOI: 10.1016/j.placenta.2008.12.007
Keywords
Connective tissue; Genes; Preterm birth; PPROM; Cervical incompetence
Funding
- National Institutes of Health [R01 HD034612, P60 MD002256]
- March of Dimes
- VCU Physician-Scientist Training Program
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [R01HD034612] Funding Source: NIH RePORTER
- National Institute on Minority Health and Health Disparities [P60MD002256] Funding Source: NIH RePORTER
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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. (C) 2008 Elsevier Ltd. All rights reserved.
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