title: SREBP-2 1784 G/C genotype is associated with non-alcoholic fatty liver disease in north Indians.
abstract: BACKGROUND
  Genetics of non-alcoholic fatty liver (NAFLD) in Asian Indians has been inadequately investigated. This study aims to determine the association of the 1784G>C polymorphism in the SREBP-2 gene with NAFLD in Asian Indians in north India.
  
  
  METHODS
  In this study, (n=335); 162 obese with NAFLD, 91 obese without NAFLD and 82 non-obese without NAFLD subjects were recruited. Abdominal ultrasound, clinical profile, anthropometry, metabolic profile, serum levels of alanine aminotransferase, aspartate aminotransferase, fasting insulin and high sensitivity C-reactive protein (hs-CRP) were analysed. Polymerase chain reaction and restriction fragment length polymorphism were used to identify individual genotypes, and the association of this polymorphism with clinical and biochemical parameters was assessed.
  
  
  RESULTS
  The observed frequency of G allele was 0.73 and C allele was 0.27. Frequency of C/C genotype was higher in NAFLD as compared to obese and non-obese subjects (p=0.003). In NAFLD subjects 57.4% were G/G homozygous, 31.5% G/C heterozygous and 11.1% were C/C homozygous. The SREBP-2 genotype frequencies deviated from the Hardy Weinberg Equilibrium (X² = 6.39, p = 0.0114). Mean values of TG (p = 0.002), TC (p =0.002), ALT (p =0.04) and AST (p =0.03) levels were significantly higher in NAFLD subjects with G/C genotype as compared to G/G genotypes in obese and non-obese groups. Fasting insulin (p =0.03), HOMA (p =0.009) and hs-CRP levels were significantly higher in NAFLD subjects with G/C genotype as compared to obese and non obese subjects with G/G genotypes.
  
  
  CONCLUSIONS
  In this study, conducted for the first time in Asian Indians, SREBP-2 1784 G>C genotype was associated with NAFLD.
authors.affiliation: Department of Biochemistry, New Delhi, India.
authors.forename: Surya Prakash
authors.initials: SP
authors.lastname: Bhatt
authors.forename: Priyanka
authors.initials: P
authors.lastname: Nigam
authors.forename: Anoop
authors.initials: A
authors.lastname: Misra
authors.forename: Randeep
authors.initials: R
authors.lastname: Guleria
authors.forename: Kalpana
authors.initials: K
authors.lastname: Luthra
authors.forename: M
authors.initials: M
authors.lastname: Vaidya
authors.forename: S K
authors.initials: SK
authors.lastname: Jain
authors.forename: M A Qadar
authors.initials: MA
authors.lastname: Pasha
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005234:Fatty Liver / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D008111:Liver Function Tests; D008297:Male; D065626:Non-alcoholic Fatty Liver Disease; D009765:Obesity / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D051782:Sterol Regulatory Element Binding Protein 2 / Q000235:genetics*
chemical_list: C497390:SREBF2 protein, human; D051782:Sterol Regulatory Element Binding Protein 2