title: Association of the polymorphisms 292 C>T and 1304 G>A in the SLC38A4 gene with hyperglycaemia.
abstract: BACKGROUND
  The SLC38A4 gene is related to system 'A' activity, which seems to be related to impaired gluconeogenesis. The objective of this study was to determine whether the 292 C>T and 1304 G>A polymorphisms of SLC38A4 gene are associated with hyperglycaemia in humans.
  
  
  METHODS
  A total of 227 individuals were enrolled in a case-control study, in which hyperglycaemia was defined by plasma glucose levels ≥95 mg/dL. Genotyping was carried out by using real-time polymerase chain reaction.
  
  
  RESULTS
  The frequency of mutant alleles of SLC38A4 gene for single-nucleotide polymorphism (SNP) 1304 G>A was 23.6% and 30.2% for SNP 292 C>T. The frequency of allele T for the SNP 292 C>T in the case and control groups did not show significant differences, whereas the frequency of allele A for the SNP 1304 G>A was significantly higher in the case group than in the control group (p = 0.04). In the logistic regression analysis, the SNP 1304 G>A [odds ratio (OR) 1.78; 95%CI 1.04-3.05, p = 0.03] but not SNP 292 C>T (OR 1.41; 95%CI 0.80-2.47, p = 0.23) showed a significant association with hyperglycaemia. After adjusting by body mass index, waist circumference and triglycerides, the SNP 1304 G>A remained significantly associated with hyperglycaemia (OR 2.13; 95%CI 1.18-3.83, p = 0.03). Pair wise linkage disequilibrium showed correlation (D' > 0.82) between 292 C>T and 1304 G>A SNPs. Haplotype association with hyperglycaemia also showed significant association between both homozygous mutant alleles (A/T) and hyperglycaemia (OR 1.68; 95%CI 1.01-2.79, p = 0.048).
  
  
  CONCLUSIONS
  Our results suggest that mutant allele A for SNP 1304 G>A of SLC38A4 gene is associated with hyperglycaemia.
authors.affiliation: Doctorado en Ciencias en Biotecnología IPN, Durango, Durango, Mexico.
authors.forename: Siblie Marbey
authors.initials: SM
authors.lastname: González-Renteria
authors.forename: Verónica
authors.initials: V
authors.lastname: Loera-Castañeda
authors.forename: Isaías
authors.initials: I
authors.lastname: Chairez-Hernández
authors.forename: Martha
authors.initials: M
authors.lastname: Sosa-Macias
authors.forename: Norma
authors.initials: N
authors.lastname: Paniagua-Castro
authors.forename: Ismael
authors.initials: I
authors.lastname: Lares-Aseff
authors.forename: Martha
authors.initials: M
authors.lastname: Rodríguez-Moran
authors.forename: Fernando
authors.initials: F
authors.lastname: Guerrero-Romero
authors.forename: Carlos
authors.initials: C
authors.lastname: Galaviz-Hernández
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D026924:Amino Acid Transport System A / Q000235:genetics*; D015992:Body Mass Index; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D006943:Hyperglycemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D026924:Amino Acid Transport System A; C507352:SLC38A4 protein, human