Phosphoglucomutase Genetic Polymorphism and Body Mass
| Autor: | Laura Di Renzo, E. Antonacci, Egidio Bottini, Fulvia Gloria-Bottini, Mauro La Torre, Antonio Bergamaschi, Andrea Magrini, Antonino De Lorenzo |
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| Rok vydání: | 2007 |
| Předmět: |
Male
medicine.medical_specialty Linkage disequilibrium Adolescent Birth weight Gestational Age Overweight Biology Body Mass Index Sex Factors Gene Frequency Genetic Internal medicine PGM1 Diabetes Mellitus Settore MED/44 - Medicina del Lavoro medicine Birth Weight Humans Settore MED/49 - Scienze Tecniche Dietetiche Applicate Polymorphism Allele Child Preschool Allele frequency Aged Genetics Polymorphism Genetic Homozygote Body Weight fungi Infant Newborn Infant Middle Aged Female Child Preschool Italy Phosphoglucomutase Diabetes Mellitus Type 2 General Medicine Newborn medicine.disease Obesity Endocrinology medicine.symptom Body mass index Type 2 |
| Zdroj: | The American Journal of the Medical Sciences. 334:421-425 |
| ISSN: | 0002-9629 |
| DOI: | 10.1097/maj.0b013e3180a5e934 |
| Popis: | Background We have searched for a possible association of the genetic polymorphism of Phosphoglucomutase locus 1 (PGM 1 ), a key enzyme in carbohydrate metabolism, with body mass. Methods Adults (n = 257) with type 2 diabetes, 74 children referred for “obesity,” and 740 consecutive healthy newborn infants were studied. Body mass index, body weight, birth weight, and PGM 1 phenotype were determined. Sexes were analyzed separately. Results In type 2 diabetes, females carrying the PGM 1 *2 allele are less represented among subjects with extreme body mass index deviation as compared with other classes of subjects. Among children referred for “obesity,” females carrying the PGM 1 *2 allele are less represented among children with extreme body weight deviation. Among consecutive infants, in both sexes the proportion of those showing a birth weight higher than the 3rd quartile is lower in homozygous PGM 1 2/2 subjects than in other PGM 1 phenotypes. Conclusions The data suggest that during extrauterine life, females carrying the PGM 1 *2 allele are relatively protected from extreme body mass increase. During intrauterine life, PGM 1 2/2 homozygotes show a tendency to low body mass increase. Because PGM 1 enzymatic activity depends on its phosphorylation status by the kinase Pak1, both structural differences of the PGM 1 allelic product and different rates of activation by Pak between sexes might be responsible for the pattern observed. At present, the effect of other genes near PGM 1 and in linkage disequilibrium with it cannot be ruled out. |
| Databáze: | OpenAIRE |
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