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Association of the polymorphisms 292 C>T and 1304 G>A in the SLC38A4 gene with hyperglycaemia
Author(s) -
GonzálezRenteria Siblie Marbey,
LoeraCastañeda Verónica,
ChairezHernández Isaías,
SosaMacias Martha,
PaniaguaCastro Norma,
LaresAseff Ismael,
RodríguezMoran Martha,
GuerreroRomero Fernando,
GalavizHernández Carlos
Publication year - 2013
Publication title -
diabetes/metabolism research and reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.307
H-Index - 110
eISSN - 1520-7560
pISSN - 1520-7552
DOI - 10.1002/dmrr.2344
Subject(s) - snp , single nucleotide polymorphism , linkage disequilibrium , allele , biology , genotyping , genetics , odds ratio , medicine , allele frequency , genotype , endocrinology , gene
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. Copyright © 2012 John Wiley & Sons, Ltd.