Document Detail

Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss.
MedLine Citation:
PMID:  23416372     Owner:  NLM     Status:  Publisher    
Transforming growth factor β1 (TGF-beta-1) plays a significant role in pregnancy outcome. We investigated the association of TGFB1 exon 1 (rs1800471, rs1800470) and promoter region (rs1800469, rs1800468) polymorphisms with recurrent pregnancy loss (RPL) in 675 Tunisian women: 304 women with a history of three consecutive pregnancy losses of unknown etiology with the same partner, and 371 age-matched multiparous control women. TGFB1 genotyping was done by TaqMan assays. Higher minor allele frequency (MAF) for rs1800471 (P<0.001), but not for rs1800470, rs1800469, or rs1800468 was found in RPL cases compared to controls. A significant difference in the distribution of rs1800471 genotypes was seen between the RPL cases and control women, irrespective of the genetic model used. Increased RPL risk was seen with rs1800471 allele C in the heterozygous state and to a greater degree in the homozygous state thus establishing a dose-dependent effect. Haploview analysis revealed differential linkage disequilibrium between the TGFB1 SNPs analyzed. TGFB1 haplotype analysis identified 8 common haplotypes (rs1800471/rs1800470/rs1800469/rs1800468) with three (GTTG, Pc=0.02; CCTG, Pc=0.02, and CTCG, Pc=0.02) positively associated with RPL, and one (GCCG, Pc=0.009) negatively associated with RPL. This study provides the first evidence that the TGFB1 genotype may influence RPL.
K Magdoud; V Granados Herbepin; S Messaoudi; S Hizem; N Bouafia; W Y Almawi; T Mahjoub; R Touraine
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-2-15
Journal Detail:
Title:  Molecular human reproduction     Volume:  -     ISSN:  1460-2407     ISO Abbreviation:  Mol. Hum. Reprod.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-2-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9513710     Medline TA:  Mol Hum Reprod     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Research Unit of Hematological and Autoimmune Diseases, Faculty of Pharmacy, University of MonastirMonastir, Tunisia.
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