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Genomic Imprinting and Inheritance

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Related Experiment Video

Updated: Jun 15, 2026

Instrumentation of Near-term Fetal Sheep for Multivariate Chronic Non-anesthetized Recordings

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Published on: October 25, 2015

Maternal leptin receptor gene variant Gln223Arg is not associated with variation in birth weight or maternal body

L Rand¹, E C Winchester, I Y Millwood

¹Department of Medical and Community Genetics, Imperial College School of Medicine, Kennedy Galton Centre, North West London Hospitals NHS Trust, Harrow, UK.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity

|May 22, 2001

Summary

The leptin receptor gene variant Gln223Arg does not significantly impact maternal BMI or birth weight in pregnant women. This finding suggests it does not explain the link between placental leptin and infant weight.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genetics
Reproductive Biology
Metabolic Health

Background:

Leptin, an adipocyte-secreted hormone, regulates body weight and metabolism.
Placental leptin levels correlate with birth weight, suggesting a role in fetal growth.
Leptin receptor gene (LEPR) variations may influence obesity and birth weight.

Purpose of the Study:

Investigate the Gln223Arg variant (A-->G, 668) in the leptin receptor gene.
Examine its association with maternal body mass index (BMI) and fetal birth weight.
Assess these relationships in a cohort of pregnant women of Asian Indian and UK/Irish origin.

Main Methods:

Genotyping of the LEPR Gln223Arg polymorphism in 455 pregnant women.
Statistical analysis to assess associations with maternal BMI and birth weight.
Adjustments for gestational length and maternal age were applied.

Main Results:

Maternal genotype distributions adhered to Hardy-Weinberg equilibrium.
No significant association was found between the Gln223Arg genotype and maternal BMI.
The LEPR variant did not show a significant link with fetal birth weight.

Conclusions:

The Gln223Arg variant in the maternal leptin receptor gene does not explain the association between placental leptin and birth weight.
This specific LEPR variant is not associated with maternal BMI variation in early pregnancy.
Further research may be needed to identify other genetic factors influencing birth weight and maternal BMI.