Collagen 1Alpha1 and transforming growth factor-beta polymorphisms in women with cervical insufficiency.
OBJECTIVE
To estimate whether polymorphisms in the collagen 1Alpha1 gene (COL1Alpha1) and the transforming growth factor-beta gene (TGF-beta;1) are more common in women with cervical insufficiency than in those without the condition.


METHODS
Medical, obstetric, and family histories and blood were obtained from women with (n=121) and those without (n=165) cervical insufficiency. DNA was extracted and purified by using commercial DNA isolation kits. Samples were analyzed for variants in two genes, the COL1A1 intron 1SP1 and TGF-beta Arg-25-Pro polymorphism, by using an allele-specific polymerase chain reaction assay.


RESULTS
Thirty-four of 125 (27.2%) women with cervical insufficiency had at least one first-degree female relative affected. The frequency of the homozygous TT genotype in the COL1A1 gene was increased in women with a history of cervical insufficiency compared with controls (10.8% compared with 3.1%, P=.04). The TGF-beta polymorphisms (ArgPro and ProPro) also were increased in cases (38.3% compared with 14.6%, P<.001).


CONCLUSIONS
Over one fourth of women with cervical insufficiency have a family history of cervical insufficiency, and the COL1A1 intron 1SP1 and TGF-beta Arg-25-Pro polymorphisms are associated with the condition. These observations suggest that, in part, cervical insufficiency is mediated by genetic factors.


METHODS
II.
Warren
Jennifer E
JE
Department of Obstetrics and Gynecology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA. Jennifer.warren@hsc.utah.edu
Silver
Robert M
RM
Dalton
Jess
J
Nelson
Lesa T
LT
Branch
D Ware
DW
Porter
T Flint
TF
D016022:Case-Control Studies; D023802:Cerclage, Cervical; D024042:Collagen Type I / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic / Q000235:genetics*; D011247:Pregnancy; D016212:Transforming Growth Factor beta / Q000235:genetics*; D002581:Uterine Cervical Incompetence / Q000235:genetics* / Q000601:surgery
D024042:Collagen Type I; D016212:Transforming Growth Factor beta