title: The CARD15 2936insC mutation and TLR4 896 A>G polymorphism in African Americans and risk of preterm premature rupture of membranes (PPROM).
abstract: Infection is believed to be a leading cause of preterm premature rupture of membranes (PPROM). The bacterial cell wall component, lipopolysaccharide (LPS), is thought to initiate tissue responses leading to PPROM in the setting of Gram negative infection. LPS is recognized by the innate immune system, including the proteins encoded by the CARD15 and TLR4 genes. A recently described mutation (2936insC) in CARD15 and a polymorphism in TLR4 896 A>G impair responses to LPS. The objective of this study was to determine if African Americans, who have a higher incidence of PPROM than Caucasians, have different frequencies of the mutant CARD15 allele and the TLR4 hyporesponsive variant, and if risk of PPROM is influenced by fetal carriage of these alleles. The allele frequencies for the CARD15 mutation and the TLR4 896G variant in African Americans were similar to those reported for Caucasians. There was no association between the TLR4 alleles examined and PPROM. However, the CARD15 mutation was only detected in controls and not in PPROM cases. We conclude that the CARD15 mutation and hyporesponsive TLR4 allele do not contribute to ethnic variation in the incidence of PPROM.
authors.affiliation: Center for Research on Reproduction and Women's Health, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors.forename: Pedro E
authors.initials: PE
authors.lastname: Ferrand
authors.forename: Toshio
authors.initials: T
authors.lastname: Fujimoto
authors.forename: Vargheese
authors.initials: V
authors.lastname: Chennathukuzhi
authors.forename: Samuel
authors.initials: S
authors.lastname: Parry
authors.forename: George A
authors.initials: GA
authors.lastname: Macones
authors.forename: Mary
authors.initials: M
authors.lastname: Sammel
authors.forename: Helena
authors.initials: H
authors.lastname: Kuivaniemi
authors.forename: Roberto
authors.initials: R
authors.lastname: Romero
authors.forename: Jerome F
authors.initials: JF
authors.lastname: Strauss
mesh_terms: D000328:Adult; D001741:Black or African American; D044383:Black People / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D029721:Drosophila Proteins; D005260:Female; D005322:Premature Rupture of Fetal Membranes / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics*; D008824:Michigan / Q000453:epidemiology; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D010414:Pennsylvania / Q000453:epidemiology; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011956:Receptors, Cell Surface / Q000235:genetics*; D012306:Risk; D051197:Toll-Like Receptor 4; D051193:Toll-Like Receptors; D044465:White People / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D029721:Drosophila Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D011956:Receptors, Cell Surface; C495345:TLR4 protein, human; D051197:Toll-Like Receptor 4; D051193:Toll-Like Receptors