Faculty of Medicine, Medical Academy, Lithuanian University of Health Sciences, A. Mickeviciaus 9, 44307 Kaunas, Lithuania.
Laboratory of Ophthalmology, Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences, Eiveniu 2, 50161 Kaunas, Lithuania.
Int J Mol Sci. 2024 Sep 3;25(17):9554. doi: 10.3390/ijms25179554.
Our study aimed to investigate the associations between rs1029153, rs1801157, and rs2297630 single-nucleotide polymorphisms (SNPs), CXCL12 protein levels, MS prevalence, and clinical parameters. This study included 250 individuals diagnosed with MS and 250 sex- and age-matched healthy control individuals from Lithuania. The SNPs were genotyped with real-time PCR-based assays. The CXCL12 protein concentration was evaluated in serum using the ELISA method. Of the studied SNPs, we found that the rs1801157 CT genotype in the males was associated with 2.3 times reduced MS odds when compared with the CC genotype according to the overdominant and codominant models ( = 0.011 and = 0.012, respectively). There was a tendency, which did not reach adjusted statistical significance, for a lower CXCL12 protein concentration in the healthy individuals with the rs1801157 CT genotype ( = 0.028). Sensory symptoms were rarer in the women with the rs1801157 TT genotype ( = 0.004); however, this genotype was also associated with a shorter MS disease duration ( = 0.007). rs1801157 was associated with reduced odds of MS occurrence in the male individuals. In women, rs1801157 was associated with a sensory symptom prevalence.
我们的研究旨在探讨 rs1029153、rs1801157 和 rs2297630 单核苷酸多态性（SNP）与 CXCL12 蛋白水平、MS 患病率和临床参数之间的关联。这项研究包括来自立陶宛的 250 名确诊为 MS 的患者和 250 名性别和年龄匹配的健康对照个体。SNP 通过实时 PCR 基于检测法进行基因分型。使用 ELISA 法评估血清中 CXCL12 蛋白浓度。在所研究的 SNP 中，我们发现男性中的 rs1801157 CT 基因型与 CC 基因型相比，MS 患病的几率降低了 2.3 倍，根据超显性和共显性模型（ = 0.011 和 = 0.012）。与 rs1801157 CT 基因型的健康个体的 CXCL12 蛋白浓度有降低的趋势，但未达到调整后的统计学意义（ = 0.028）。在女性中，rs1801157 TT 基因型的感觉症状更少见（ = 0.004）；然而，这种基因型也与 MS 疾病持续时间较短相关（ = 0.007）。rs1801157 与男性 MS 发生率降低有关。在女性中，rs1801157 与感觉症状的患病率有关。
