A 12-bp deletion in the 5'-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans
✍ Scribed by Hongyan Wang; Mary D. Sammel; Gerard Tromp; Francesca Gotsch; Indrani Halder; Mark D. Shriver; Roberto Romero; Jerome F. Strauss III
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 161 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
We identified a novel 12-bp deletion NT_033927.7: g.5495364_5495375del in the 5'-flanking region of the SERPINH1 gene that increases promoter activity. The 12-bp deletion is in linkage disequilibrium with the minor "T" allele of the -656 C/T SNP (NT_033927.7(SERPINH1):g.5495402C>T) that reduces promoter activity in amnion fibroblast cells and is associated with a significantly increased risk of preterm birth as a result of premature rupture of membranes. In a case-control study, fetal carriage of the 12-bp deletion was found to protect against PPROM, apparently overcoming the influence of the SERPINH1 -656 "T" allele. These studies define a new haplotype in the SERPINH1 gene that modifies risk of an adverse obstetrical outcome.