Association of candidate gene polymorphisms with clinical subtypes of preterm birth in a Latin American population

Autor: Tamara Busch, Mariela Pawluk, Jeffrey C. Murray, Viviana Cosentino, Fernando A. Poletta, Jorge S. Lopez-Camelo, Enrique C. Gadow, Cesar Saleme, Hebe Campaña, Juan Antonio Gili, Lucas Gabriel Gimenez, Allison M. Momany, Hugo Krupitzki
Jazyk: angličtina
Rok vydání: 2017
Předmět:
0301 basic medicine
Adult
Candidate gene
Pediatrics
medicine.medical_specialty
Fetal Membranes
Premature Rupture

Genotype
Population
Single-nucleotide polymorphism
macromolecular substances
Bioinformatics
environment and public health
Polymorphism
Single Nucleotide

Article
03 medical and health sciences
Young Adult
0302 clinical medicine
Gene Frequency
Pregnancy
Infant Mortality
medicine
Humans
clinical subtypes of PTB
education
Gene
Background. Preterm birth (PTB)
education.field_of_study
030219 obstetrics & reproductive medicine
integumentary system
Neonatal mortality
business.industry
Pediatric research
Pediatría
Infant
Newborn

preterm birth
Infant
medicine.disease
PON1
3. Good health
030104 developmental biology
Latin America
Pediatrics
Perinatology and Child Health

Premature Birth
Female
business
candidate genes
Premature rupture of membranes
Zdroj: Pediatric research
CIC Digital (CICBA)
Comisión de Investigaciones Científicas de la Provincia de Buenos Aires
instacron:CICBA
ISSN: 1530-0447
0031-3998
Popis: Background. Preterm birth (PTB) is the leading cause of neonatal mortality and morbidity. PTB is often classified according to clinical presentation: Idiopathic (PTB-I), preterm premature rupture of membranes (PTB-PPROM), and medically induced (PTBM). The aim of this study was to evaluate the associations between specific candidate genes and clinical subtypes of PTB. Methods. 24 SNPs were genotyped in 18 candidate genes in 709 infant triads. Of them, 243 were PTB-I, 256 PTB-PPROM, and 210 PTB-M. These data were analyzed with a Family-Based Association. Results. PTB was nominally associated with rs2272365 in PON1, rs883319 in KCNN3, rs4458044 in CRHR1, and rs610277 in F3. Regarding clinical subtypes analysis, 3 SNPs were associated with PTB-I (rs2272365 in PON1, rs10178458 in COL4A3, and rs4458044 in CRHR1), rs610277 in F3 was associated with PTBPPROM, and rs883319 in KCNN3 and rs610277 in F3 were associated with PTB-M. Conclusions. Our study identified polymorphisms potentially associated with specific clinical subtypes of PTB in this Latin American population. These results could suggest a specific role of such genes in the mechanisms involved in each clinical subtype. Further studies are required to confirm our results and to determine the role of these genes in the pathophysiology of clinical subtypes.
Databáze: OpenAIRE