Polymorphisms in maternal and fetal genes encoding for proteins involved in extracellular matrix metabolism alter the risk for small-for-gestational-age

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dc.contributor.authorEdwards, Digna R. Velez
dc.contributor.authorRomero, Roberto
dc.contributor.authorKusanovic, Juan Pedro
dc.contributor.authorHassan, Sonia S.
dc.contributor.authorMazaki Tovi, Shali
dc.contributor.authorVaisbuch, Edi
dc.contributor.authorKim, Chong Jai
dc.contributor.authorErez, Offer
dc.contributor.authorChaiworapongsa, Tinnakorn
dc.contributor.authorPearce, Brad D.
dc.contributor.authorBartlett, Jacquelaine
dc.contributor.authorFriel, Lara A.
dc.contributor.authorSalisbury, Benjamin A.
dc.contributor.authorAnant, Madan Kumar
dc.contributor.authorVovis, Gerald F.
dc.contributor.authorLee, Min Seob
dc.contributor.authorGomez, Ricardo
dc.contributor.authorBehnke, Ernesto
dc.contributor.authorOyarzun, Enrique
dc.contributor.authorTromp, Gerard
dc.contributor.authorMenon, Ramkumar
dc.contributor.authorWilliams, Scott M.
dc.date.accessioned2024-01-10T13:52:14Z
dc.date.available2024-01-10T13:52:14Z
dc.date.issued2011
dc.description.abstractObjective. To examine the association between maternal and fetal genetic variants and small-for-gestational-age (SGA).
dc.description.abstractMethods. A case-control study was conducted in patients with SGA neonates (530 maternal and 436 fetal) and controls (599 maternal and 628 fetal); 190 candidate genes and 775 SNPs were studied. Single-locus, multi-locus and haplotype association analyses were performed on maternal and fetal data with logistic regression, multifactor dimensionality reduction (MDR) analysis, and haplotype-based association with 2 and 3 marker sliding windows, respectively. Ingenuity pathway analysis (IPA) software was used to assess pathways that associate with SGA.
dc.description.abstractResults. The most significant single-locus association in maternal data was with a SNP in tissue inhibitor of metalloproteinase 2 (TIMP2) (rs2277698 OR = 1.71, 95% CI [1.26-2.32], p = 0.0006) while in the fetus it was with a SNP in fibronectin 1 isoform 3 preproprotein (FN1) (rs3796123, OR = 1.46, 95% CI [1.20-1.78], p = 0.0001). Both SNPs were adjusted for potential confounders (maternal body mass index and fetal sex). Haplotypc analyses resulted in associations in alpha 1 type I collagen preproprotein (COL1A1, rs1007086-rs2141279-rs17639446, global p = 0.006) in mothers and FN1 (rs2304573-rs1250204-rs1250215, global p = 0.045) in fetuses. Multi-locus analyses with MDR identified a two SNP model with maternal variants collagen type V alpha 2 (COL5A2) and plasminogen activator urokinase (PLAU) predicting SGA outcome correctly 59% of the time (p = 0.035).
dc.description.abstractConclusions. Genetic variants in extracellular matrix-related genes showed significant single-locus association with SGA. These data are consistent with other studies that have observed elevated circulating fibronectin concentrations in association with increased risk of SGA. The present study supports the hypothesis that DNA variants can partially explain the risk of SGA in a cohort of Hispanic women.
dc.description.funderPerinatology Research Branch, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS
dc.description.funderEUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT
dc.description.funderEUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT
dc.fechaingreso.objetodigital2024-05-14
dc.format.extent19 páginas
dc.fuente.origenWOS
dc.identifier.doi10.3109/14767058.2010.497572
dc.identifier.eissn1476-4954
dc.identifier.issn1476-7058
dc.identifier.pubmedidMEDLINE:20617897
dc.identifier.urihttps://doi.org/10.3109/14767058.2010.497572
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79652
dc.identifier.wosidWOS:000287008100031
dc.information.autorucMedicina;Gomez R ;S/I;80926
dc.information.autorucMedicina;Oyarzun E ;S/I;54261
dc.issue.numero2
dc.language.isoen
dc.nota.accesoSin adjunto
dc.pagina.final380
dc.pagina.inicio362
dc.publisherTAYLOR & FRANCIS LTD
dc.revistaJOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
dc.rightsregistro bibliográfico
dc.subjectDNA variants
dc.subjectextracellular matrix
dc.subjectgenetic association study
dc.subjectgenomics
dc.subjectgenotype
dc.subjecthaplotype
dc.subjecthigh dimensional biology
dc.subjectSNP
dc.subjectintrauterine growth restriction
dc.subjectgenetic epidemiology
dc.subjectcomplex disease
dc.subjectINTRAUTERINE GROWTH RESTRICTION
dc.subjectUTERINE ARTERY DOPPLER
dc.subjectLOW-BIRTH-WEIGHT
dc.subjectMULTIFACTOR-DIMENSIONALITY REDUCTION
dc.subjectHARDY-WEINBERG EQUILIBRIUM
dc.subjectFALSE DISCOVERY RATE
dc.subjectSIB-PAIR LINKAGE
dc.subjectPLACENTAL GROWTH
dc.subjectFACTOR RECEPTOR-1
dc.subjectANGIOGENIC FACTORS
dc.subject.ods03 Good Health and Well-being
dc.subject.ods05 Gender Equality
dc.subject.odspa03 Salud y bienestar
dc.subject.odspa05 Igualdad de género
dc.titlePolymorphisms in maternal and fetal genes encoding for proteins involved in extracellular matrix metabolism alter the risk for small-for-gestational-age
dc.typeartículo
dc.volumen24
sipa.codpersvinculados80926
sipa.codpersvinculados54261
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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