title: Association of MTHFR and PPARγ2 gene polymorphisms in relation to type 2 diabetes mellitus cases among north Indian population.
abstract: BACKGROUND
  Type 2 diabetes mellitus is a multifactorial and polygenic disease, which is considered as a major life threatening problem all over the world. There has been a worldwide effort in the identification of susceptibility genes for type 2 diabetes mellitus and its complications. At present, adequate data is not available dealing with MTHFR (rs1801133) and PPARγ2 (rs1801282) gene polymorphisms and its association with type 2 diabetes mellitus cases among north Indian populations. Thus, we conceived the need for further studies to investigate MTHFR and PPARγ2 gene polymorphisms and their susceptibility to type 2 diabetes mellitus in north Indian population.
  
  
  METHODS
  In this study, a total 175 subjects including 87 type 2 diabetes mellitus cases and 88 controls were enrolled. MTHFR and PPARγ2 gene polymorphisms in the cases and controls were evaluated by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).
  
  
  RESULTS
  The MTHFR gene CC, CT, TT genotype frequencies obtained were 40%, 43%, and 17% in type 2 diabetes mellitus cases and 56%, 29%, and 15% in healthy controls respectively. The OR for CC was 0.54 (95%CI 0.29-0.98, P=0.041, χ(2)=4.18, power=0.98), for CT 1.76 (95%CI 0.94-3.30, P=0.07, χ(2)=3.2, power=0.96), and for TT 1.2 (95%CI 0.53-2.70, P=0.66, χ(2)=0.198, power=0.76). The PPARγ2 gene GG CG, CC genotype frequencies obtained were 28%, 41%, and 31% in cases and 40%, 39%, and 21% in healthy controls respectively. OR for GG was 0.58 (95%CI 0.30-1.09, P=0.08, χ(2)=2.9, power=0.96), for CG 1.12 (95%CI 0.61-2.05, P=0.71, χ(2)=0.137, power=0.778), and for CC 1.63 (95%CI 0.82-3.23, P=0.156, χ(2)=2.01, power=0.92).
  
  
  CONCLUSIONS
  It might be recommended that MTHFR CC genotype seems to be a good marker for the early identification of population at risk of type 2 diabetes mellitus. While we have detected significant difference in allelic frequencies of PPARγ2 C (Proline) and G (Alanine), but at genotypic level significant difference was not detected in this case-control study. Further study with larger groups may be required to validate the study.
authors.affiliation: Department of Biochemistry, Era's Lucknow Medical College and Hospital, Lucknow, India 226003. tasleem24@gmail.com
authors.forename: Syed Tasleem
authors.initials: ST
authors.lastname: Raza
authors.forename: Shania
authors.initials: S
authors.lastname: Abbas
authors.forename: Faisal
authors.initials: F
authors.lastname: Ahmed
authors.forename: Jalees
authors.initials: J
authors.lastname: Fatima
authors.forename: Zeashan Haider
authors.initials: ZH
authors.lastname: Zaidi
authors.forename: Farzana
authors.initials: F
authors.lastname: Mahdi
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D017931:DNA Primers; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D006801:Humans; D007194:India; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D047495:PPAR gamma / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D017931:DNA Primers; D047495:PPAR gamma; D042965:Methylenetetrahydrofolate Reductase (NADPH2)