Objective: To investigate the possible association between c.1365-13T>C, c.406C>T polymorphism and G6PD deficiency in the population of Guangxi by the methods of case-control study. Meanwhile to investigate the mutation frequency of these two gene loci in population of Guangxi.
Methods: The activity levels of G6PD and c.1365-13T>C, c.406C>T polymorphism were detected in 417 patients with G6PD deficiency and 295 healthy controls. The correlation between genotypes, alleles and G6PD activity levels was analyzed using statistical methods, and the haplotype frequencies at the two loci was analyzed using online SHEsis software.
Results: The frequencies of CC genotype (P=0.001, OR=2.684) and C allele (P=0.002, OR=1.681) of c.1365-13T>C in patients with G6PD deficiency were significant lower than those in the controls, the frequency of dominant model TT+TC vs CC（P=0.001, OR=2.694） in the G6PD deficiency group was higher than that in the control group, and the differences were statistically significant. The differences of genotype and allele frequencies in c.406C>T between G6PD deficiency patients and controls had no statistical significance (all P>0.05). Haplotype analysis showed that there were significant correlations between C-C, T-C haplotypes and G6PD expression levels. In G6PD deficiency group, patients with c.1365-13T>C TC genotype had higher levels of G6PD activity, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC) compared with patients with TT genogype, but the values of red cell distribution width-coefficient of variation (RDW-CV) was lower than those in TT genotype patients, and the differences were statistically significant (P<0.05). While patients with c.1365-13T>C CC genotype had lower levels of G6PD activity compared with patients with TT genogype, but the values of MCV and MCH were higher than those in TT genotype patients (P<0.05). The average values of hematocrit(HCT), MCV, MCH and red blood cell distribution width-standard deviation (RDW-SD) in patients with c. 406C> T TT genotype were significantly higher than those in patients with c. 406C> T CC genotype.(all P<0.05).
Conclusion: The association between G6PD c.1365-13T>C and the activity levels of G6PD is statistically significant, which is worth further study.
题目: c.1365-13T>C和c.406C>T基因多态性与 G6PD缺乏症发病风险的相关性研究.
目的: 探究广西人群G6PD基因c.1365-13T>C、c.406C>T位点遗传多态性与葡萄糖-6-磷酸脱氢酶（G6PD） 缺乏症发病风险的相关性，同时了解广西人群中这两个基因的携带和突变频率.
方法: 检测417例G6PD缺乏症患者和295例正常对照者的G6PD活性水平及c.1365-13T>C、c.406C>T位点基因多态性，分析两位点基因型、等位基因与G6PD活性水平的相关性，并用在线SHEsis软件分析两位点单倍型分布频率.
结果: c.1365-13T>C位点CC基因型（P=0.001，OR=2.684）和C等位基因（P=0.002，OR=1.681）在G6PD缺乏患者中的分布频率均明显低于对照组，显性模型TT+TC vs CC（P=0.001，OR=2.694）分布频率明显高于对照组。c.406C>T位点基因型及等位基因在G6PD缺乏患者和对照组中分布频率差异均无统计学意义（P>0.05）。单倍型分析结果显示，C-C、T-C和G6PD表达水平有显著相关性。G6PD缺乏患者中c.1365-13T>C TC基因型G6PD酶活性水平、MCV、MCH、MCHC平均值均明显大于TT基因型，RDW-CV平均值明显小于TT基因型；CC基因型G6PD酶活性水平明显低于TT基因型，MCV、MCH平均值均明显高于TT型（均P<0.05）。c.406C>T TT基因型患者的HCT、MCV、MCH、RDW-SD平均值均明显高于CC基因型（均P<0.05）.
结论: G6PD c.1365-13T>C位点突变与G6PD活性水平降低存在相关性，值得进一步研究.
Keywords: correlation study; disease risk; glucose-6-phosphate dehydrogenase deficiency; single nucleotide polymorphism.