Our purpose was to determine whether the functional genetic polymorphisms of the beta(2)-adrenergic receptor (beta(2)AR) that result in changes in amino acid residues 16 and 27 are associated with preterm delivery.
A case-control study comparing the distribution of beta(2)AR genotype between 251 Hispanic women delivered at term and 28 Hispanic women delivered preterm. Preterm delivery was defined as spontaneous onset of labor resulting in delivery before 37 weeks of gestation, in a singleton pregnancy, with no apparent etiology for preterm labor and delivery. Genomic DNA was isolated from peripheral blood, and beta( 2)AR alleles were identified by established techniques.
Only one woman (4%) with preterm labor was homozygous for Arg16 versus 79 (31%) in the control group (P =.01, odds ratio 0.08). There was no association of preterm labor with genotype at position 27.
Our data demonstrate that homozygosity for Arg16, which in vitro is associated with decreased down-regulation of the beta(2)AR, protects from preterm delivery.
"Polymorphic changes in the protein coding regions of specific genes and in regulatory and intronic sequences have been described. In most of the studies reported to date, candidate genes or proteins involved in inflammatory reactivity or uterine contractility have been investigated (34,38–55). Summaries of these observations and candidate genes have been reported (42). "
[Show abstract][Hide abstract] ABSTRACT: Genome-wide association studies (GWAS) query the entire genome in a hypothesis-free, unbiased manner. Since they have the potential for identifying novel genetic variants, they have become a very popular approach to the investigation of complex diseases. Nonetheless, since the success of the GWAS approach varies widely, the identification of genetic variants for complex diseases remains a difficult problem. We developed a novel bioinformatics approach to identify the nominal genetic variants associated with complex diseases. To test the feasibility of our approach, we developed a web-based aggregation tool to organize the genes, genetic variations and pathways involved in preterm birth. We used semantic data mining to extract all published articles related to preterm birth. All articles were reviewed by a team of curators. Genes identified from public databases and archives of expression arrays were aggregated with genes curated from the literature. Pathway analysis was used to impute genes from pathways identified in the curations. The curated articles and collected genetic information form a unique resource for investigators interested in preterm birth. The Database for Preterm Birth exemplifies an approach that is generalizable to other disorders for which there is evidence of significant genetic contributions.Database URL:
Database The Journal of Biological Databases and Curation 01/2012; 2012:bar069. DOI:10.1093/database/bar069 · 3.37 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Genetic association studies are becoming increasingly frequent in the obstetric and gynecologic literature and they are considered central to the deciphering of the genetic basis of complex disease. The purpose, design, execution, analysis, and interpretation of genetic association studies in reproduction are discussed. Frequently used terms are defined (eg, genotype, haplotype, polymorphism, single nucleotide polymorphism, linkage disequilibrium). Guidelines are proposed for the evaluation of reports of genetic association studies (including selection of polymorphisms for study, study design, assay characteristics, sample size, multiple testing, and multivariable analysis). The potential value of this type of investigation in elucidating the mechanisms of disease in reproduction is illustrated.
American Journal of Obstetrics and Gynecology 12/2002; 187(5):1299-312. DOI:10.1067/mob.2002.128319 · 4.70 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: La hipertensión arterial esencial (HTE) es uno de los principales factores de riesgo cardiovascular y generador indirecto de la enfermedad coronaria, la mayor causa de muertes en Colombia y el mundo .El Sistema Nervioso Simpático (SNS) modifica la resistenciaarterial periférica a través del receptor ? 2 adrenérgico, generando señales intracelulares que regulan la relajación delmúsculo liso vascular. Este receptor experimenta un procesodenominado desensibilización, es decir, cuando es activado porun agonista por tiempo prolongado, la respuesta no será de lamisma intensidad a la inicial. La desensibilización del receptor? 2 parece estar determinada por la estructura de aminoácidospolimórficos: Arginina 16 Glicina y Ácido glutámico 27 Glutaminaamino terminales. Estas variantes son codificadas por polimorfismos de un solo nucleótido (SNP) 46 y 79. La funciónde estos polimorfismos y su efecto en la función vascular escontroversial. Evidencias clínica e in vitro sugieren que la Glicina16 se desensibiliza mas rápido que la Arginina; igualmente, elÁcido glutámico 27 facilita la desensibilización versusglutamina.
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