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

Human Mutation
Hongyan WangJerome F Strauss

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.

Citations

Jan 24, 2012·Reproductive Sciences·Jerome F Strauss
Jun 26, 2008·BMC Cell Biology·Pengcheng WangLin Liu
Sep 13, 2008·Pediatric Research·Emmanuel A AnumJerome F Strauss
Dec 3, 2009·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Francesca GotschLami Yeo
Sep 6, 2014·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Roberto RomeroYeon Mee Kim
Sep 12, 2008·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Daniela Holst, Yves Garnier
Aug 3, 2010·American Journal of Obstetrics and Gynecology·Roberto RomeroRamkumar Menon
Jun 2, 2016·Gastroenterology Research and Practice·Jose Miguel Moreno-OrtizMelva Gutiérrez-Angulo
Nov 28, 2012·Reproduction : the Official Journal of the Society for the Study of Fertility·Stella LiongHarry M Georgiou
Nov 8, 2008·Current Opinion in Obstetrics & Gynecology·Karla Damus
Dec 19, 2017·American Journal of Obstetrics and Gynecology·Jerome F StraussHarvey A Schenkein

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