与 NDUFV2 相关的单核苷酸多态性 rs145497186 与腰椎间盘退变的关系：一项初步的病例对照研究。
Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study.
机构信息
Department of Orthopedics, Qilu Hospital of Shandong University, #107 Wenhuaxi Road, Jinan, 250012, Shandong, People's Republic of China.
Cheeloo College of Medicine, Shandong University, Jinan, 250012, Shandong, People's Republic of China.
出版信息
J Orthop Surg Res. 2022 Oct 29;17(1):473. doi: 10.1186/s13018-022-03368-y.
OBJECTIVE
The association between the single-nucleotide polymorphisms (SNPs) rs28742109, rs12955018, rs987850, rs8093805, rs12965084 and rs145497186 related to gene named NADH dehydrogenase [ubiquinone] flavoprotein 2 (NDUFV2) and lumbar disc degeneration (LDD) was preliminary investigated in a small sample size.
METHODS
A total of 46 patients with LDD and 45 controls were recruited at Qilu Hospital of Shandong University, and each participant provided 5 mL peripheral venous blood. NA was extracted from the blood of each participant for further genotyping. The frequency of different genotypes in the case group and control group was determined, and analysis of the risk of LDD associated with different SNP genotypes was performed. The visual analogue scale (VAS) scores of the patients' degree of chronic low back pain were calculated, and the relationship between VAS scores and SNPs was analysed.
RESULTS
After excluding the influence of sex, age, height, and weight on LDD, a significant association between SNP rs145497186 related to NDUFV2 and LDD persisted (P = 0.006). Simultaneously, rs145497186 was found to be associated with chronic low back pain in LDD populations.
CONCLUSION
NDUFV2 rs145497186 SNP could be associated with susceptibility to LDD and the degree of chronic low back pain.
目的
初步探讨与 NADH 脱氢酶[泛醌]黄素蛋白 2（NDUFV2）基因相关的单核苷酸多态性（SNP）rs28742109、rs12955018、rs987850、rs8093805、rs12965084 和 rs145497186 与腰椎间盘退变（LDD）的关联，样本量较小。
方法
在山东大学齐鲁医院共招募了 46 例 LDD 患者和 45 例对照者，每位参与者提供 5 mL 外周静脉血。从每位参与者的血液中提取 NA 进行进一步的基因分型。确定病例组和对照组中不同基因型的频率，并分析与不同 SNP 基因型相关的 LDD 风险。计算患者慢性腰痛程度的视觉模拟量表（VAS）评分，并分析 VAS 评分与 SNPs 的关系。
结果
在排除性别、年龄、身高和体重对 LDD 的影响后，与 NDUFV2 相关的 SNP rs145497186 与 LDD 之间仍存在显著关联（P = 0.006）。同时，rs145497186 与 LDD 人群中的慢性腰痛有关。
结论
NDUFV2 rs145497186 SNP 可能与 LDD 的易感性和慢性腰痛的严重程度有关。
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