title: Maternal and neonatal leptin and leptin receptor polymorphisms associated with preterm birth.
abstract: Leptin (LEP) and leptin receptor (LEPR) are suggested to play a role in female reproduction and especially in pregnancy Both LEP and LEPR are synthesized by the pregnant female and embryo. The link between genetic polymorphisms of LEP and LEPR and preterm birth (PTB) is unknown. We studied maternal and neonatal LEP and LEPR genetic polymorphisms and the association with PTB. Blood for DNA analysis was collected from Israeli mothers and from venous umbilical of their respected idiopathic preterm newborns (24-36weeks, n=102) and control term newborns (>37weeks, n=158). Genotypes of maternal and neonatal LEP (rs7799039) and LEPR (rs1137101) polymorphisms were analyzed by restriction fragment length polymorphism analysis. Genotype-phenotype association was assayed using SPSS program. We found a significant independent increased risk of PTB for women and neonates bearing the homozygous AA form of LEP genotype; where women carrying AA LEP genotype had 2.53 fold ([CI] 1.367-4.685, p=0.03) and 2.38 fold ([CI] 1.150-4.915, p=0.019) increased risk for PTB compared to AG and GG genotypes, respectively. Neonates carrying the LEP AA genotype had a significant 2.8 fold increased risk for PTB compared to the AG genotype (CI11.040-7.577, p=0.042). Maternal LEPR polymorphism was significantly associated with severe PTB; where women carrying the AA and AG genotypes had a significant 4.32 and 4.76 fold increased risk for severe PTB compared to women carrying the GG genotype (CI=1.090-17.112 and 1.332-17.027, respectively p=0.035).
  
  
  CONCLUSIONS
  maternal and neonatal LEP and LEPR polymorphisms are significantly associated with increased risk for PTB.
authors.affiliation: Department of Nutrition, Faculty of Health Sciences, Ariel University, Israel.
authors.forename: Hagit
authors.initials: H
authors.lastname: Salem
authors.affiliation: Department of Nutrition, Faculty of Health Sciences, Ariel University, Israel; Genetics Unit and Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Talya
authors.initials: T
authors.lastname: Rosenfeld
authors.affiliation: Genetics Unit and Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
authors.affiliation: Genetics Unit and Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Sorina
authors.initials: S
authors.lastname: Grisaru-Granovsky
authors.affiliation: Department of Nutrition, Faculty of Health Sciences, Ariel University, Israel. Electronic address: ruthb@ariel.ac.il.
authors.forename: Ruth
authors.initials: R
authors.lastname: Birk
mesh_terms: D000328:Adult; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D020738:Leptin / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D047928:Premature Birth / Q000235:genetics; D054411:Receptors, Leptin / Q000235:genetics*
chemical_list: D020738:Leptin; D054411:Receptors, Leptin
keywords: Leptin (LEP); Leptin receptor (LEPR); Preterm birth (PTB); SNPs