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Phosphoglucomutase genetic polymorphism and body mass.

Fulvia Gloria-Bottini¹, Andrea Magrini, Elena Antonacci

¹Department of Biopathology and Imaging Diagnostics, University of Rome Tor Vergata, School of Medicine, Rome, Italy. gloria@med.uniroma2.it

The American Journal of the Medical Sciences

|December 20, 2007

Summary

The PGM1*2 allele may protect females from extreme body mass increase after birth. PGM12/2 homozygotes tend to have lower body mass during fetal development.

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Area of Science:

Genetics
Metabolism
Human Physiology

Background:

Phosphoglucomutase locus 1 (PGM1) is a key enzyme in carbohydrate metabolism.
Genetic variations in PGM1 may influence body mass regulation.

Purpose of the Study:

To investigate the association between PGM1 genetic polymorphism and body mass.
To explore potential sex-specific effects of PGM1 on body mass.

Main Methods:

Studied adults with type 2 diabetes, children with obesity, and healthy newborns.
Determined body mass index, body weight, birth weight, and PGM1 phenotype.
Analyzed sexes separately.

Main Results:

In adults with type 2 diabetes and children with obesity, females with the PGM1*2 allele were less represented in extreme body mass categories.
In newborns, PGM12/2 homozygotes had a lower proportion of high birth weight compared to other PGM1 phenotypes.

Conclusions:

The PGM1*2 allele appears to offer protection against excessive body mass gain in females postnatally.
PGM12/2 homozygotes exhibit a tendency towards lower body mass during fetal development.
Potential mechanisms involve PGM1 allelic product differences and Pak1 activation rates, though linkage disequilibrium with nearby genes cannot be excluded.