Phosphoglucomutase genetic polymorphism and body mass

American Journal of the Medical Sciences

Volumn 334, Issue 6, 2007, Pages 421-425

  Gloria Bottini, Fulvia ^a,d   Magrini, Andrea ^a   Antonacci, Elena ^b   La Torre, Mauro ^b   Di Renzo, Laura ^a   De Lorenzo, Antonino ^a   Bergamaschi, Antonio ^c   Bottini, Egidio ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b S Massimo Hospital   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Birth weight; Body mass index; Genetic polymorphism; Overweight

Indexed keywords

P21 ACTIVATED KINASE 1; PHOSPHOGLUCOMUTASE;

ADULT; AGED; ARTICLE; BIRTH WEIGHT; BODY MASS; BODY WEIGHT; CHILD; CONTROLLED STUDY; DIABETIC PATIENT; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PATIENT REFERRAL; PHENOTYPE; POSTNATAL DEVELOPMENT; PRENATAL DEVELOPMENT; SEX DIFFERENCE;

ADOLESCENT; AGED; BIRTH WEIGHT; BODY MASS INDEX; BODY WEIGHT; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 2; FEMALE; GENE FREQUENCY; GESTATIONAL AGE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; ITALY; MALE; MIDDLE AGED; PHOSPHOGLUCOMUTASE; POLYMORPHISM, GENETIC; SEX FACTORS;

EID: 37349065560     PISSN: 00029629     EISSN: None     Source Type: Journal    
DOI: 10.1097/MAJ.0b013e3180a5e934     Document Type: Article

References (33)

1. Webber J. Energy balance in obesity. Proc Nutr Soc 2003;62:539-43.
2. Loktionov A. Common gene polymorphisms and nutrition: emerging links with pathogenesis of multifactorial chronic diseases (review). J Nutr Biochem 2003;14:426-51.
3. Speakman JR. Obesity, the integral roles of environment and genetics. J Nutr 2004;134:2090S-105S.
4. Cancello R, Tounian A, Poitou CH, et al. Adiposity signals, genetic and body weight regulation in humans. Diabetes Metab 2004;30:215-27.
5. Tremblay A, Doucet E. Obesity: a disease or a biological adaptation? Obes Rev 2000;1:27-35.
6. Ochoa Mdel C, Marti A, Martinez JA. Obesity studies in candidate genes. Med Clin 2004;122:542-51.
7. Snyder EE, Walts B, Perusse L, et al. The human obesity gene map: the 2003 update. Obes Res 2004;12:369-439.
8. Bottini E, Gerlini G, Fallucca F, et al. Diabetic pregnancy: fetal development and maternal phosphoglucomutase phenotype. Dis Markers 1985;3:83-9.
9. Gloria-Bottini F, Lucarini N, Bonci E, et al. Genetic polymorphism and intrauterine development: the role of maternal PGM1 and MNSs genotypes. Am J Dis Child 1986;140:324-6.
10. 1 alleles. Am J Hum Biol 2001;13:417-20.
11. Spencer N, Hopkinson DA, Harris H. Phosphoglucomutase polymorphism in man. Nature 1964;21:742-5.
12. Hopkinson DA, Harris H. A third phosphoglucomutase locus in man. Ann Hum Genet 1968;31:359-67.
13. McAlpine PJ, Hopkinson DA, Harris H. The relative activities attributable in three phosphoglucomutase loci (PGM1, PGM2, PGM3) in human tissues. Ann Hum Genet 1970;34:169-75.
14. Cantù JN, Ibarra B. Phosphoglucomutase evidence for a new locus expressed in human milk. Science 1982;216:639-40.
15. Scacchi R, Corbo RM, Palmarino R, et al. Human phosphoglucomutase locus 1: red cell enzymatic activities associated with common isoelectric focusing phenotypes. Hum Hered 1983;33:218-22.
16. Guguraj A, Barnes CJ, Vadlamudi RK, et al. Regulation of phosphoglucomutase 1 phosphorylation and activity by a signalling kinase. Oncogene 2004;23:8118-27.
17. Bark JE, Harris MJ, Firth M. Typing of the common phosphoglucomutase variants using isoelectric focusing- a new interpretation of the phosphoglucomutase system. J Forensic Sci Soc 1976;16:115-20.
18. Kuhnl P, Schmidtmann U, Spielmann W. Evidence for two additional common alleles at the PGM1 locus (phosphoglucomutase, E.C.2.7.5.1): a comparison by three different techniques. Hum Genet 1977;35:219-23.
19. Sutton JG, Burgess R. Genetic evidence for four common alleles at the phosphoglucomutase 1 locus (PGM1) detectable by isoelectric focusing. Vox Sang 1978;34:97-103.
20. Scozzari R, Trippa G, Santachiara-Benerecetti AS, et al. Further genetic heterogeneity of human red cell phosphoglucomutase 1: a nonelectrophoretic polymorphism. Ann Hum Genet 1981;45:313-22.
21. Whitehouse DB, Putt W, Lovegrove JU, et al. Phosphoglucomutase 1: complete human and rabbit mRNA sequences and direct mapping on this highly polymorphic marker on human chromosome 1. Proc Natl Acad Sci U S A 1992;89:411-5.
22. March RE, Putt W, Hollyoake M, et al. The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination. Proc Natl Acad Sci U S A 1993;90:10730-3.
23. Takahashi N, Neel JV. Intragenic recombination at the human phosphoglucomutase 1 locus: predictions fulfilled. Proc Natl Acad Sci U S A 1993;90:10725-9.
24. Yip SP, Lovegrove JU, Rana NA, et al. Mapping recombination hotspots in human phosphoglucomutase (PGM1). Hum Mol Genet 1999;8:1699-706.
25. Panero C, Romano S, Cianciulli D, et al. Auxometric parameters and gestational age in 9751 newborns in Florence. J Foet Med 1983;3:95-103.
26. SPSS/PC+ Version 5.0. Chicago, SPSS Inc, 1992.
27. Sokal RR, Rohlf FJ. Biometry. New York, Freeman, 1981.
28. McKusick VA. Mendelian inheritance in man. 11th edition. Baltimore, MD, Johns Hopkins University Press, 1994.
29. Portoles O, Sorli JV, Frances F, et al. Effect of genetic variation in the leptin gene promoter and the leptin receptor gene in obesity risk in a population-based case-control study in Spain. Eur J Epidemiol 2006;21:605-12.
30. Park KS, Shin HD, Park BL, et al. Polymorphisms in the leptin receptor (LEPR): putative association with obesity and T2DM. J Hum Genet 2006;51:85-91.
31. Duarte SF, Francischetti EA, Genelhu-Abreu V, et al. p.Q223R leptin receptor polymorphism associated with obesity in Brazilian multiethnic subjects. Am J Hum Biol 2006;18:448-53.
32. Dawson E, Abecasis GR, Bumpstead S, et al. A first-generation linkage disequilibrium map of human chromosome 22. Nature 2002;418:544-8.
33. Whitacre CC, Reingold SC, O'Looney PA. A gender map in autoimmunity. Science 1999;283:1277-8.