title: Association of Methylene Tetrahydrofolate Reductase Polymorphism with BMD and Homocysteine in Premenopausal North Indian Women.
abstract: OBJECTIVE
  Osteoporosis (OP) is a common nutrigenomic disease associated with various genetic components. Observational studies have indicated that mildly elevated homocysteine was a strong risk factor for osteoporotic fractures. Yet there is no clear biologic mechanism for an effect of homocysteine on bone.The aim of this study was to investigate the association of MTHFR C677T and A1298C polymorphisms, and to verify the association of these polymorphisms with bone mineral density and homocysteine in premenopausal women of northern India.
  
  
  METHODS
  We included 402 north Indian patients with altered BMD, both Osteopenic (OPN) and Osteoporosis, and normal controls. Genotype identification for MTHFR C677T and A1298C polymorphisms were analyzed by PCR-RFLP method, correlated with Bone Mineral Density (BMD), Homocysteine (Hcy), Folate and Vitamin B12.
  
  
  RESULTS
  The study groups did not differ in terms of age, weight and body mass indices. Prevalence of Genotype frequencies (GFs) for MTHFRC677T OP were (n: 402): CC 361 (89.8%), CT 25 (6.22%), TT 16 (3.98%) and that for MTHFR A1298C were (n: 402) AA 353(87.81%), AC 29(7.21%), CC 20(4.98%). Folate was significantly lower in the OP group than those in both the other groups, while there was no significant difference in Hcy in the OP group relative to OPN, as compared to controls.
  
  
  CONCLUSIONS
  The GFs for MTHFR C677T and A1298C polymorphisms were not different between both groups. In conclusion, polymorphism of the MTHFR 677T is associated with small differences in BMD with folate levels. Further, more investigations should be done in larger studies for other epigenetic pathways, that may increase the risk of Osteoporosis.
authors.affiliation: Department of Pediatrics, Maulana Azad Medical Collelege , New Delhi, India .
authors.forename: Sanjeev Kumar
authors.initials: SK
authors.lastname: Pandey
authors.affiliation: Senior Research Associate, Department of Pediatrics MAMC , New Delhi, India .
authors.forename: Ankur
authors.initials: A
authors.lastname: Singh
authors.affiliation: Cytogeneticist, Genetic Lab, Department of Pediatrics, MAMC & LNHospital , New Delhi, India .
authors.forename: Sunil Kumar
authors.initials: SK
authors.lastname: Polipalli
authors.affiliation: Professor, Department of Obestrics & Gynaecology, MAMC , New Delhi, India .
authors.forename: Sangeeta
authors.initials: S
authors.lastname: Gupta
authors.affiliation: Professor, Department of Pediatrics, MAMC , New Delhi, India .
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
keywords: Bone mineral density; Methylene tetra hydro folate reductase; Premenopausal women