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.
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.
Wang
Hongyan
H
State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University School of Life Science, Shanghai, China.
Sammel
Mary D
MD
Tromp
Gerard
G
Gotsch
Francesca
F
Halder
Indrani
I
Shriver
Mark D
MD
Romero
Roberto
R
Strauss
Jerome F
JF
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
D050958:HSP47 Heat-Shock Proteins; C494661:Serpinh1 protein, mouse