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Genetic association study of preterm birth and gestational age in a population-based case-control study in Peru.
Juvinao-Quintero, D L; Sanchez, S E; Workalemahu, T; Pinto, N; Liang, L; Williams, M A; Gelaye, B.
Afiliação
  • Juvinao-Quintero DL; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
  • Sanchez SE; Universidad de San Martin de Porres, Facultad de Medicina Humana, Instituto de Investigación, Lima, Peru.
  • Workalemahu T; Asociación Civil PROESA, Lima, Peru.
  • Pinto N; Department of Obstetrics and Gynecology, University of Utah Health, Salt Lake City, UT, USA.
  • Liang L; Asociación Civil PROESA, Lima, Peru.
  • Williams MA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
  • Gelaye B; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
J Neonatal Perinatal Med ; 17(5): 689-704, 2024.
Article em En | MEDLINE | ID: mdl-39302385
ABSTRACT

BACKGROUND:

Preterm birth (PTB) affects ∼15 million pregnancies worldwide. Genetic studies have identified several candidate loci for PTB, but results remain inconclusive and limited to European populations. Thus, we conducted a genome-wide association study (GWAS) of PTB and gestational age at delivery (GA) among 2,212 Peruvian women.

METHODS:

PTB cases delivered≥20 weeks' but < 37 weeks' gestation, while controls delivered at term (≥37 weeks but <42 weeks). Multivariable regressions were used to identify genetic markers for PTB and GA (∼6 million SNPs), adjusting for maternal age and the first two genetic principal components. In silico functional analysis was conducted among top signals detected with an arbitrary P < 1.0×10-5 . We sought to replicate genetic markers for PTB and GA identified in Europeans, and we developed a genetic risk score for GA based on European markers.

RESULTS:

Mean GA was 30 ± 4 weeks in PTB cases (N = 933) and 39 ± 1 in the controls (N = 1,279). No associatiosn were identified at genome-wide level. Nominal PTB variants were enriched for biological pathways associated with polyketide, progesterone, steroid hormones, and glycosyl metabolism. Nominal GA variants were enriched in intronic regions and cancer pathways. Variants in WNT4 associated with GA in Europeans were replicated in our study. A genetic risk score was associated with a 2-day longer GA (P = 0.002) in our sample.

CONCLUSIONS:

This study identified various signals suggestively associated with PTB and GA in pregnant Peruvian women. None of these variants overlapped with signals previously identified in Europeans.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Idade Gestacional / Polimorfismo de Nucleotídeo Único / Nascimento Prematuro / Estudo de Associação Genômica Ampla Limite: Adult / Female / Humans / Newborn / Pregnancy País/Região como assunto: America do sul / Peru Idioma: En Revista: J Neonatal Perinatal Med Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Idade Gestacional / Polimorfismo de Nucleotídeo Único / Nascimento Prematuro / Estudo de Associação Genômica Ampla Limite: Adult / Female / Humans / Newborn / Pregnancy País/Região como assunto: America do sul / Peru Idioma: En Revista: J Neonatal Perinatal Med Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Holanda