SLC38A4 基因 292 C>T 和 1304 G>A 多态性与高血糖的关联。

Association of the polymorphisms 292 C>T and 1304 G>A in the SLC38A4 gene with hyperglycaemia.

机构信息

Doctorado en Ciencias en Biotecnología IPN, Durango, Durango, Mexico.

出版信息

Diabetes Metab Res Rev. 2013 Jan;29(1):39-43. doi: 10.1002/dmrr.2344.

DOI:10.1002/dmrr.2344

PMID:22945694

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.

摘要

背景

SLC38A4 基因与系统 A 活性有关，而系统 A 活性似乎与糖异生受损有关。本研究的目的是确定 SLC38A4 基因的 292C>T 和 1304G>A 多态性是否与人类的高血糖有关。

方法

共纳入 227 名病例对照研究的个体，其中高血糖定义为血浆葡萄糖水平≥95mg/dL。采用实时聚合酶链反应进行基因分型。

结果

SNP1304G>A 的 SLC38A4 基因突变等位基因的频率为 23.6%，SNP292C>T 为 30.2%。病例组和对照组 SNP292C>T 等位基因 T 的频率无显著差异，而 SNP1304G>A 等位基因 A 的频率在病例组显著高于对照组（p=0.04）。在逻辑回归分析中，SNP1304G>A[比值比（OR）1.78；95%置信区间（CI）1.04-3.05，p=0.03]但 SNP292C>T（OR1.41；95%CI0.80-2.47，p=0.23）与高血糖显著相关。调整体重指数、腰围和三酰甘油后，SNP1304G>A 仍与高血糖显著相关（OR2.13；95%CI1.18-3.83，p=0.03）。两两连锁不平衡显示 292C>T 和 1304G>A 之间存在相关性（D'＞0.82）。高血糖与单体型的关联也显示，SLC38A4 基因的 292C>T 和 1304G>A 两个纯合突变等位基因（A/T）与高血糖之间存在显著关联（OR1.68；95%CI1.01-2.79，p=0.048）。