Assuntos
Pesquisa Biomédica/organização & administração , Anormalidades Congênitas , Comportamento Cooperativo , Monitoramento Epidemiológico , Cooperação Internacional , Autoria , Pesquisa Biomédica/métodos , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/prevenção & controle , Humanos , América Latina , Modelos Teóricos , Avaliação de Programas e Projetos de SaúdeRESUMO
OBJECTIVE: To investigate genetic etiologies of preterm birth (PTB) in Argentina through evaluation of single-nucleotide polymorphisms (SNPs) in candidate genes and population genetic admixture. STUDY DESIGN: Genotyping was performed in 389 families. Maternal, paternal and fetal effects were studied separately. Mitochondrial DNA (mtDNA) was sequenced in 50 males and 50 females. Y-chromosome anthropological markers were evaluated in 50 males. RESULT: Fetal association with PTB was found in the progesterone receptor (PGR, rs1942836; P=0.004). Maternal association with PTB was found in small conductance calcium activated potassium channel isoform 3 (KCNN3, rs883319; P=0.01). Gestational age associated with PTB in PGR rs1942836 at 32-36 weeks (P=0.0004). MtDNA sequencing determined 88 individuals had Amerindian consistent haplogroups. Two individuals had Amerindian Y-chromosome consistent haplotypes. CONCLUSION: This study replicates single locus fetal associations with PTB in PGR, maternal association in KCNN3, and demonstrates possible effects for divergent racial admixture on PTB.
Assuntos
Canais de Potássio Cálcio-Ativados/genética , Nascimento Prematuro/genética , Receptores de Progesterona/genética , Argentina , DNA Mitocondrial , Feminino , Feto , Predisposição Genética para Doença , Genótipo , Humanos , Indígenas Sul-Americanos/genética , Recém-Nascido , Masculino , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Isoformas de Proteínas , População Branca/genéticaRESUMO
Los autores hacen una revisión de las condutas quirúrgicas en los casos de deformidades nasales en niños