A polymorphism in a possible regulatory region of PGR associated with risk of spontaneous preterm labor with intact membranes (PTB-I)

GIMÉNEZ LG; POLETTA FA,; MOMANY AM,; GILI JA ,; PAWLUK MS; COMAS B,; COSENTINO V,; SALEME C,; KRUPITZKI, H; GADOW E,; MURRAY JC; LOPEZ CAMELO JS

Milan

Congreso; The EUROPEAN HUMAN GENETICS CONFERENCE 2014 in conjunction with The European Meeting on Psychosocial Aspects of Genetics 2014 and the Società Italiana di Genetica Umana.; 2014

The EUROPEAN HUMAN GENETICS CONFERENCE 2014

Background. Progesterone has been used to prevent recurrences of preterm labor suggesting that the progesterone receptor gene (PGR) may play a critical role in the maintenance of pregnancy.The aim of this work was to investigate the association between a single nucleotide polymorphism (SNP) located in a possible regulatory region of PGR (rs1942836) and two different clinical subtypes of preterm birth: spontaneous (PTB-I) and premature rupture of membrane (PTB-PROM). This SNP has been previously studied in a heterogeneous group of PTBs. Methods. The sample included 412 triads (proband, mother, father) recruited at the Nuestra Señora de la Merced Maternity Hospital in Tucumán, Argentina. Of these triads, 200 had probands from PTB-I and 212 had probands from PTB-PROM. Genotyping was performed using Applied Biosystems Taqman probes and the Fluidigm genotyping platform. Both maternal and fetal genetic effects were analyzed using a log-linear method for analysis of case-parent?triad data (Weinberg et al. 1998). Results. We found a significant association between rs1942836 (maternal effect) and PTB-I (OR: 2.01; IC 95%: 1.12-3.61; p= 0.01), but not between this SNP and PTB-PROM (OR: 1.05; IC 95%: 0.57-1.93; p= 0.85). Conclusions. These results would suggest a specific association between the PGR gene (maternal effect) and PTB-I, but not with PTB-PROM. These findings may have implications in understanding the pathophysiology of clinical subtypes of preterm birth and the potential therapeutic role of progesterone in prevention of PTB-I.