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Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.

ABSTRACT: Birth weight is an important indicator of both perinatal and adult health, but little is known about the genetic factors contributing to its variability. Intrauterine growth restriction is a leading cause of perinatal morbidity and mortality and is also associated with adult disease. A significant correlation has been reported between lower birth weight and increased expression of the maternal PHLDA2 allele in term placenta (the normal imprinting pattern was maintained). However, a mechanism that explains the transcriptional regulation of PHLDA2 on in utero growth has yet to be described. In this study, we sequenced the PHLDA2 promoter region in 263 fetal DNA samples to identify polymorphic variants. We used a luciferase reporter assay to identify in the PHLDA2 promoter a 15 bp repeat sequence (RS1) variant that significantly reduces PHLDA2-promoter efficiency. RS1 genotyping was then performed in three independent white European normal birth cohorts. Meta-analysis of all three (total n = 9,433) showed that maternal inheritance of RS1 resulted in a significant 93 g increase in birth weight (p = 0.01; 95% confidence interval [CI] = 22-163). Moreover, when the mother was homozygous for RS1, the influence on birth weight was 155 g (p = 0.04; 95% CI = 9-300), which is a similar magnitude to the reduction in birth weight caused by maternal smoking.

SUBMITTER: Ishida M

PROVIDER: S-EPMC3322226 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature

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Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.

Ishida Miho M Monk David D Duncan Andrew J AJ Abu-Amero Sayeda S Chong Jiehan J Ring Susan M SM Pembrey Marcus E ME Hindmarsh Peter C PC Whittaker John C JC Stanier Philip P Moore Gudrun E GE

American journal of human genetics 20120322 4

Birth weight is an important indicator of both perinatal and adult health, but little is known about the genetic factors contributing to its variability. Intrauterine growth restriction is a leading cause of perinatal morbidity and mortality and is also associated with adult disease. A significant correlation has been reported between lower birth weight and increased expression of the maternal PHLDA2 allele in term placenta (the normal imprinting pattern was maintained). However, a mechanism tha ...[more]

PMID: 22444668

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Project description:ObjectivesWeight at birth is usually considered as an indicator of the health status of a given society. As a result this study was designed to investigate the association between birth weight and maternal factors such as gestational weight gain, pre-pregnancy BMI and socio-economic status in Northern Ghana.MethodsThe study was a facility-based cross-sectional survey conducted in two districts in the Northern region of Ghana. These districts were purposively sampled to represent a mix of urban, peri-urban and rural population. The current study included 419 mother-infant pairs who delivered at term (37-42 weeks). Mother's height, pre-pregnancy weight and weight changes were generated from the antenatal records. Questionnaires were administered to establish socio-economic and demographic information of respondents. Maternal factors associated with birth weight were examined using multiple and univariate regressions.ResultsThe mothers were generally well nourished before conception (Underweight 3.82%, Normal 57.76%, Overweight 25.06% and Obesity 13.37%) but approximately half of them could not gain adequate weight according to Institute of Medicine recommendations (Low weight gain 49.64%, Adequate weight gain 42.96% and Excessive weight gain 7.40%). Infants whose mothers had excess weight gain were 431g (95% CI 18-444) heavier compared to those whose mothers gained normal weight, while those whose mothers gained less were 479g (95% CI -682- (-276) lighter. Infants of mothers who were overweight and obese before conception were 246g (95% CI 87-405) and 595g (95% CI 375-815) respectively heavier than those of normal mothers, whereas those whose mothers were underweight were 305g (95% CI -565 -(-44) lighter. The mean birth weight observed was 2.98 ± 0.68 kg.ConclusionOur findings show that pre-pregnancy body mass index and weight gain during pregnancy influence birth weight. Therefore, emphasis should be placed on counseling and assisting pregnant women to stay within the recommended weight gain ranges.

Dataset Information

Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.

Publications

Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.

Similar Datasets

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