Abstract

Identification of causal factors that influence fetal growth and anthropometry at birth is of great importance as they provide information about increased risk of disease throughout life. The association between maternal genetic polymorphism MTHFR(677)C>T and anthropometry at birth has been widely studied because of its key role in the one-carbon cycle. MTHFR(677) CT and TT genotypes have been associated with a greater risk of low birth weight, especially in case of deficient intake of folic acid during pregnancy. This study aimed to analyze the association between the maternal MTHFR(677)C>T genetic polymorphism and anthropometry at birth in a population with adequate folate consumption. We included 694 mother–newborn pairs from a prospective population-based birth cohort in Spain, in the Genetics, Early life enviroNmental Exposures and Infant Development in Andalusia (GENEIDA) project. Women were genotyped for MTHFR(677)C>T SNP by Q-PCR using TaqMan© probes. Relevant maternal and newborn information was obtained from structured questionnaires and medical records. Results showed that maternal MTHFR(677)C>T genotype was associated with newborn anthropometry. Genotypes CT or CT/TT showed statistically significant associations with increased or decreased risk of large-for-gestational-age (LGA) or small-for-gestational-age (SGA) based on weight and height, depending on the newborn’s sex, as well as with SGA in premature neonates. The relationships between this maternal genotype and anthropometry at birth remained despite an adequate maternal folate intake.

Highlights

  • Anthropometric measurements of infants allow for assessing intrauterine growth, and help to identify infants with a greater risk of suffering developmental disorders or diseases in adult life

  • Infants born small for gestational age (SGA) or large for gestational age (LGA) have been associated with a significant perinatal morbidity and increased risk of diseases later in life as compared to infants born adequate for gestational age (AGA) [2,3,4,5]

  • In this study of pregnant women from Southern Spain with adequate folate nutritional status, the methylenetetrahydrofolate reductase (MTHFR)(677)C>T genetic polymorphism was associated with infant anthropometry at birth and with a higher risk of SGA in female premature infants

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Summary

Introduction

Anthropometric measurements of infants allow for assessing intrauterine growth, and help to identify infants with a greater risk of suffering developmental disorders or diseases in adult life. Infants born SGA or LGA have been associated with a significant perinatal morbidity and increased risk of diseases later in life as compared to infants born adequate for gestational age (AGA) [2,3,4,5]. A daily dose of 400 micrograms of folic acid supplement is recommended to future mothers from the periconceptional period to prevent neural tube defects as well as low birth weight and preterm birth that are known to be associated to insufficient folate consumption during early pregnancy [9]

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