title: Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism among Gaddi tribe of Indian state of Himachal Pradesh.
abstract: BACKGROUND
  Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been suggested to be positively associated with several disorders. Distribution of the mutant T-allele varies in ethnic and geographical populations of the world.
  
  
  OBJECTIVE
  The aim of the present study was to investigate the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in a transhumant (Gaddi) tribal population of Himachal Pradesh dwelling at high and middle altitude and exposed to strong ultraviolet radiation.
  
  
  RESULTS
  A total of 486 samples (141 males and 345 females) were randomly enrolled from the individuals aged 25-75 years who were unrelated up to first cousin. Among Gaddis, genotype frequencies of CC, CT and TT were 67.90%, 27.78% and 4.32%, respectively. Among males and females distribution of genotype frequencies also followed a similar trend. The studied population was in Hardy-Weinberg equilibrium (χ(2 )= 2.213, df = 1, p = 0.136). Frequency of mutant T-allele in the Gaddi population was found to be 0.183, which might be due to European ancestry, endogamous nature and selection.
authors.affiliation: Anthropology, Delhi University , Delhi , India.
authors.forename: Simi
authors.initials: S
authors.lastname: Khan
authors.forename: Sunil
authors.initials: S
authors.lastname: Thakur
authors.forename: Saraswathy Nava
authors.initials: SN
authors.lastname: Kallur
authors.forename: Pradeep Kumar
authors.initials: PK
authors.lastname: Ghosh
authors.forename: Mohinder Pal
authors.initials: MP
authors.lastname: Sachdeva
authors.forename: Raghavendra Rao
authors.initials: RR
authors.lastname: Vadlamudi
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D044466:Asian People / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007194:India; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Gaddis; UV radiation; genotypic frequencies; methylenetetrahydrofolate reductase