Almpanidou P, Hadjigeorgiou G, Gourgoulianis K, Papadimitriou A
Neurogenetics Unit, Dept of Neurology, University Hospital of Larissa, Medical School, University of Thessaly.
Hippokratia. 2012 Jul;16(3):217-20.
Elevated serum tumor necrosis factor-α (TNF-α) concentra-tion and a polymorphism of the TNF-α gene at the position -308 in the promoter region are associated with obstructive sleep apnea-hypopnea syndrome (OSAHS). We aimed to determine the association of this polymorphism with OSAHS in Greek patients.
A blood sample was obtained from 220 patients clinicaly diagnosed with OSAHS and 319 normal controls. TNF-α genotype was determined from nucleus-containing cells from whole blood using a PCR method.
The results demonstrated that the distribution of alleles was significantly dif-ferent when comparing the OSAHS patients group to the healthy controls. The appearance of AA (p=0.04) and AG (p<0.001) genotypes was significantly greater in OSAHS patients (8.6% and 32.7%, respectively) compared to the healthy control group (4.4% and 26.3%, respectively). Correspondingly, the appearance of the GG genotype was significantly lower in OSAHS patients compared to healthy controls (53.6% vs 69.3%). The A and G allele appeared at a frequency of 27.5% and 72.5% respectively in the OSAHS groups, and 17.6% and 82.4% in the control group respectively.
The distribution of genotypes and alleles of the single nucleotide polymorphism of TNF-α (-308) of OSAHS patients varies from healthy controls.
血清肿瘤坏死因子-α（TNF-α）浓度升高以及启动子区域-308位置的TNF-α基因多态性与阻塞性睡眠呼吸暂停低通气综合征（OSAHS）相关。我们旨在确定希腊患者中这种多态性与OSAHS的关联。
从220例临床诊断为OSAHS的患者和319例正常对照中采集血样。采用聚合酶链反应（PCR）方法从全血中含细胞核的细胞中确定TNF-α基因型。
结果表明，将OSAHS患者组与健康对照组进行比较时，等位基因分布存在显著差异。与健康对照组（分别为4.4%和26.3%）相比，OSAHS患者中AA基因型（p = 0.04）和AG基因型（p < 0.001）的出现率显著更高（分别为8.6%和32.7%）。相应地，与健康对照组相比，OSAHS患者中GG基因型的出现率显著更低（53.6%对69.3%）。在OSAHS组中，A和G等位基因的出现频率分别为27.5%和72.5%，在对照组中分别为才7.6%和82.4%。
OSAHS患者TNF-α（-308）单核苷酸多态性的基因型和等位基因分布与健康对照组不同。
