Tef rs738499基因多态性与帕金森病不同亚型合并抑郁的相关性

Association between Tef rs738499 Gene Polymorphism with Different Subtypes of Depression in Parkinson’s Disease

摘要: 目的：探讨中国北方汉族人群Tefrs738499基因多态性与帕金森病不同亚型合并抑郁的相关性。方法：采用病例对照研究方法，选取230例帕金森病患者(PD组)和250例同期健康查体者(对照组)，按运动症状及UPDRS评分将PD组分为震颤型、姿势障碍型、不确定型3种亚型，并根据HAMD评分将PD患者分为抑郁组(PDD组，n = 116)和非抑郁组(non-PDD, n = 114)。应用聚合酶链反应-限制性内切酶多态性(PCR-RFLP)方法检测Tef rs738499等位基因和基因型分布，并进行测序验证。结果：(1) 与对照组相比，该位点T等位基因在PD组中差别无统计学意义(OR: 0.983 95%CI: 0.720~1.342 P = 0.913)，野生型基因型即TT基因型在PD组中差别无统计学意义(OR: 0.931 95%CI: 0.646~1.340 P = 0.699)；(2) 将PD患者分为PDD与n-PDD组后，T等位基因在两组之间比较差别有统计学意义，T等位基因发生PDD的风险较n-PDD组是G等位基因的3.0倍(OR: 2.975 95%CI: 1.838~4.815 P < 0.01)，野生型基因型在两组之间比较差别有统计学意义，TT基因型发生PDD的风险是TG + GG型的4.6倍(OR: 4.646 95%CI: 2.637~8.186 P < 0.01)；(3) 该位点TT基因型在三种亚型分析中PDD组与n-PDD组均存在显著差异；(4) 病程、UPDRS-III评分、Tef rs738499的TT基因型是PDD的独立危险因素。结论：中国北方汉族人中，Tefrs738499 TT基因型及T等位基因与帕金森病不同亚型合并抑郁相关。

Abstract: Objective: To investigate the association between Tef rs738499 gene polymorphism and depression in different subtypes of Parkinson’s disease in China’s northern Han nationality. Methods: A case-control study design was adopt in the 230 patients with Parkinson’s disease (PD group) and 250 healthy control subjects (control group). According to exercise symptoms and UPDRS score, PD group was divided into three types: Tremor type, postural disorder type and uncertainty type. PD patients were divided into depression group (PDD group, n = 116) and non-depression group (non-PDD, n = 114) according to HAMD score. Polymerase chain reaction combined with restriction endonuclease polymorphism (PCR-RFLP) were used to detect and sequence the distribution of Tef rs738499 allele and genotype. Results: (1) Compared with the control group, the allele of the T allele had no significant difference in the PD group (OR: 0.983 95% CI: 0.720 - 1.342 P = 0.913). There was no significant difference in wild type genotype that is TT genotype in the PD group (OR: 0.931 95% CI: 0.646 - 1.340 P = 0.699); (2) after PD patients were divided into PDD and n-PDD group, T allele between the two groups had statistically significant difference. T allele risk of occurrence PDD was 3.0 times more likely than the n-PDD group’s occurrence in G allele (OR: 2.975 95%CI: 1.838 - 4.815 P < 0.01). And the wild type genotype was statistically significant different between the two groups. The occurrence of PDD risk in TT genotype was 4.6 times higher than that of TG + GG (OR: 4.646 95% CI: 2.637 - 8.186 P <0.01); (3) there was significant difference between PDD group and n-PDD group in the three subtypes of TT genotype; (4) course of disease, UPDRS-III score, Tef rs738499 TT genotype were an independent risk factor for PDD. Conclusion: Tef rs738499 TT genotype and T allele are associated with different subtypes of Parkinson’s disease in Han nationality in northern China.