Abstract

Leptin (LEP) and leptin receptor (LEPR) are suggested to play a role in female reproduction and especially in pregnancy BothLEP and LEPR are synthesized by the pregnant female and embryo. The link between genetic polymorphisms of LEP andLEPR and preterm birth (PTB) is unknown. We studied maternal and neonatal LEP and LEPR genetic polymorphisms and theassociation with PTB. Blood for DNA analysis was collected from Israeli mothers and from venous umbilical of their respectedidiopathic preterm newborns (24-36 weeks, n=102) and control term newborns (>37 weeks, n=158). Genotypes of maternal andneonatal LEP (rs7799039) and LEPR (rs1137101( polymorphisms were analyzed by restriction fragment length polymorphismanalysis. Genotype-phenotype association was assayed using SPSS program. We found a significant independent increased riskof PTB for women and neonates bearing the homozygous AA form of LEP genotype; where women carrying AA LEP genotypehad 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 andGG genotypes, respectively. Neonates carrying the LEP AA genotype had a significant 2.8 fold increased risk for PTB comparedto 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 comparedto women carrying the GG genotype (CI=1.090-17.112 and 1.332-17.027, respectively p=0.035). In conclusion: maternal andneonatal LEP and LEPR polymorphisms are significantly associated with increased risk for PTB.


Biography:Prof. Ruth Birk, Ph.D., R.D, is the Dean of the School of Health Sciences at Ariel University. She also heads the Nutrigenetics andNutrigenomics Research Center at the Department of Nutrition. Prof. Birk did her BSc in Food Biotechnology, BSc in ClinicalNutrition, an MSc in Nutrition-Biochemistry and PhD in Molecular Nutrition, all at the Hebrew University in Jerusalem, Israel.Focusing on the crosstalk between nutrition and genetics, she went on to do a postdoctoral fellowship in Molecular Nutritionat the University of Maryland, followed by a postdoctoral fellowship in Human Genetics at the Weizmann Institute of Science,Israel. Her main research interests are Nutrigenetics and Nutrigenomics, focusing on genetic polymorphisms and moleculargenetic aspects of nutritional effects on complex diseases and traits, such as obesity, hypertension, digestion, fertility, cancer andathletic performance.