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

被引：80

作者：

Anum, E. A. ^{[1
]}

Hill, L. D. ^{[1
]}

Pandya, A. ^{[2
]}

Strauss, J. F., III ^{[1
]}

机构：

[1] Virginia Commonwealth Univ, Dept Obstet & Gynecol, Richmond, VA 23298 USA

[2] Virginia Commonwealth Univ, Dept Human & Mol Genet, Richmond, VA 23298 USA

来源：

PLACENTA | 2009年 / 30卷 / 03期

基金：

美国国家卫生研究院;

关键词：

Connective tissue; Genes; Preterm birth; PPROM; Cervical incompetence; EHLERS-DANLOS-SYNDROME; DYSTROPHIC EPIDERMOLYSIS-BULLOSA; HUMAN FETAL MEMBRANES; CONGENITAL CUTIS LAXA; IMPERFECTA TYPE-II; SYNDROME TYPE-IV; OSTEOGENESIS-IMPERFECTA; RESTRICTIVE DERMOPATHY; MARFAN-SYNDROME; PRENATAL-DIAGNOSIS;

D O I：

10.1016/j.placenta.2008.12.007

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：207 / 215

页数：9

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