PERSONAL DE APOYO
GIMENEZ lucas Gabriel
congresos y reuniones científicas
Título:
Fetal and maternal haplotypes effects on spontaneous preterm birth occurrence in an Argentine population at riskFetal and maternal haplotypes effects on spontaneous preterm birth occurrence in an Argentine population at risk
Autor/es:
ELIAS, DARIO E; GIMENEZ, LUCAS G; KRUPITZKI, HUGO B; POLETTA, FERNANDO A; SALEME, CESAR; GADOW, ENRIQUE C; LOPEZ-CAMELO, JORGE S
Lugar:
Houston
Reunión:
Congreso; ASHG 2019 Annual Meeting; 2019
Institución organizadora:
ASHG
Resumen:
Fetal and maternalhaplotypes effects on spontaneous preterm birth occurrence in an Argentinepopulation at riskPretermbirth (PTB) is defined as birth before 37 gestation weeks. It is the leadingcause of perinatal morbimortality worldwide. It is estimated that 9,60% of allbirths in the world are preterm. Due to spontaneous PTB etiologicalheterogeneity, previous epidemiological genetic studies suggest theirdiscrimination by clinical subtypes: preterm labor leading to PTB (PTB-I) andpremature rupture of membranes (PTB-PPROM). The aims of this study is toevaluate the fetal and maternal haplotypes effects on spontaneous PTBoccurrence by clinical subtype.Thisstudy included families of neonates born between 2005 and 2010 in theMaternidad Nuestra Señora de la Merced (Tucumán, Argentina). Inclusion criteriawere singleton neonates delivered at less than 37 weeks of gestational age.Neonates were excluded for: congenital anomalies, multiple gestation, ormaternal age less than 14 years. Of the 1290 families recruited, 436 (210 PTB-Iand 226 PTB-PPROM) families was selected and 24 SNPs from 18 candidate genes ofmother, father and child were genotyped. Genotyping quality controls wereperformed. Haplotypes were defined from protein interactions with a scoregreater than 0,7 in String database. Eighteen fully connected groups of 2 and 3proteins were used. To estimate maternal and fetal haplotypes effects, andinteraction effects between haplotypes and clinical subtypes, a log-linearadditive model of Haplin R package was used.Inthe PTB-I subtype, a fetal haplotype generated with the IL1B-FN1-IGF1 genes presented a double dose Relative Risk (RR)(respect to reciprocal reference) greater than 3. On the other hand, in thePTB-PPROM subtype, fetal haplotype generated with IGF1R-FN1 genes showed a RR greater than 4. The 95% confidence intervallower end of these RRs was greater than 1 (p-value < 0,01 and q-value <0,1); the haplotype population frequency was greater than 0,2.Theinteraction between clinical subtypes and fetal haplotypes of IGF1R-FN1 and TIMP2-FN1 genes presented a RR greater than 3 (calculated as RRPTB-PPROM over RR PTB-I). While the interaction between clinical subtypes andmaternal haplotype of IL1B-FN1 genesshowed a RR greater than 2. The p-values of these RR were less than 0,06 andq-values were less than 0,15.Resultssuggest that fetal and maternal haplotypes effects would contribute differentlyto spontaneous PTB risk according to clinical subtype.