title: 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.
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.
authors.affiliation: State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University School of Life Science, Shanghai, China.
authors.forename: Hongyan
authors.initials: H
authors.lastname: Wang
authors.forename: Mary D
authors.initials: MD
authors.lastname: Sammel
authors.forename: Gerard
authors.initials: G
authors.lastname: Tromp
authors.forename: Francesca
authors.initials: F
authors.lastname: Gotsch
authors.forename: Indrani
authors.initials: I
authors.lastname: Halder
authors.forename: Mark D
authors.initials: MD
authors.lastname: Shriver
authors.forename: Roberto
authors.initials: R
authors.lastname: Romero
authors.forename: Jerome F
authors.initials: JF
authors.lastname: Strauss
mesh_terms: D024506:5' Flanking Region / Q000235:genetics*; D001741:Black or African American / Q000208:ethnology / Q000235:genetics*; D020029:Base Pairing; D016022:Case-Control Studies; D002478:Cells, Cultured; D005260:Female; D005322:Premature Rupture of Fetal Membranes / Q000208:ethnology / Q000517:prevention & control*; D050958:HSP47 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D050958:HSP47 Heat-Shock Proteins; C494661:Serpinh1 protein, mouse