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.

Hongyan Wang, Mary D. Sammel, Gerard Tromp, Francesca Gotsch, Indrani Halder, Mark D. Shriver, Roberto Romero, Jerome F. Strauss

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

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. (c) 2007 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)332
Number of pages1
JournalHuman mutation
Volume29
Issue number2
DOIs
StatePublished - Feb 2008

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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