H19 rs217727 genotype and IGF - 1 /intron -2 dinucleotide CT repeat polymorphism are independently associated with birth
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RESEARCH LETTER
H19 rs217727 genotype and IGF-1/intron -2 dinucleotide CT repeat polymorphism are independently associated with birth weight A. S. Hewage • P. Jayanthiny • K. H. Tennekoon J. M. Kumarasiri • A. P. De S. Wijesundere • E. H. Karunanayake
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Received: 23 July 2014 / Accepted: 19 August 2014 Ó Springer Science+Business Media New York 2014
Introduction Low birth weight (LBW) which results from preterm birth or intra-uterine growth retardation [1, 2] predisposes infants to increased risk of developing adult onset multiple chronic illnesses [3]. An infant may be genetically prone to LBW and overall heritability for birth weight for maternal versus paternal component is reported to be 42–45 % [4]. H19, a maternally expressed imprinted gene implicated in the regulation of birth weight codes for an RNA transcript [5]. Reports on the association of H19 rs217727 TT genotype with birth weight are sparse and findings are inconsistent [6, 7]. To our knowledge, H19 polymorphisms or their associations with birth size have not been studied in Sri Lanka or in any native South Asian population. IGF 1 is known to mediate growth and development [8]. Some of the dinucleotide polymorphisms of the IGFI gene are associated with IGF-1 levels and birth weight. We previously reported a significant association of both maternal and newborn 189 bp alleles of the IGF-1/intron 2 CT dinucleotide repeat polymorphism with birth weight in healthy full-term neonates [9]. In the present study, we investigated possible association of three common polymorphisms in the human H19 gene (rs217727, rs2067051, and rs2839703) with birth weight and if so whether the effect remains even when
A. S. Hewage P. Jayanthiny K. H. Tennekoon (&) E. H. Karunanayake Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, Colombo 3, Sri Lanka e-mail: [email protected] J. M. Kumarasiri A. P. S. Wijesundere Castle Street Hospital for Women, Colombo 8, Sri Lanka
accounted for the IGF-1/intron 2 CT dinucleotide repeat polymorphism.
Materials and methods We studied a total of 173 mother–newborn pairs of Sinhalese ethnicity (169 previously investigated for IGF-1 dinucleotide repeat polymorphism [9], remaining met same inclusion and exclusion criteria). Mothers had uncomplicated singleton pregnancies and the newborns were full term and healthy. Ethical approval from the Institutional Review Board and written informed consent from the mothers was obtained before collecting relevant data and blood samples. Three H19 polymorphisms [2992C/T (rs217727), 1737 A/G (rs2067051), and 3238A/G (rs2839703)] were genotyped for maternal and newborn DNA samples. Genomic DNA extracted from peripheral blood samples were amplified by SNP-specific primers. PCR products were purified and digested with appropriate restriction enzymes (Fnu4HI, Tsp45I, and Dde1, respectively) and separated by Agarose or Polyacrylamide gel electrophoresis. Representative samples were confirmed by primer extension-based SNP analysis using ABI PRISM SNaPshot Mu
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