[具体基因名称]和[具体基因名称]基因变异对多发性硬化易感性的影响。（你原文中“and”前后应该缺失了具体的基因相关内容）

The Influence of and Genetic Variants on the Susceptibility to Multiple Sclerosis.

作者信息

Rumšaitė Gintarė, Gedvilaitė Greta, Balnytė Renata, Kriaučiūnienė Loresa, Liutkevičienė Rasa

机构信息

Medical Faculty, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania.

Neurosciences Institute, Medical Academy, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania.

出版信息

J Clin Med. 2023 Sep 9;12(18):5863. doi: 10.3390/jcm12185863.

DOI:10.3390/jcm12185863

PMID:37762804

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10531829/

Abstract

UNLABELLED

Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system. According to recent studies, cellular senescence caused by telomere shortening may contribute to the development of MS.

AIM OF THE STUDY

Our aim was to determine the associations of rs1760904, rs1713418, rs12696304, rs35073794 gene polymorphisms with the occurrence of MS.

METHODS

The study included 200 patients with MS and 230 healthy controls. Genotyping of rs1760904, rs1713418 and rs12696304, rs35073794 was performed using RT-PCR. The obtained data were analysed using the program "IBM SPSS Statistics 29.0". Haplotype analysis was performed using the online program "SNPStats".

RESULTS

The rs12696304 G allele of this SNP is associated with 1.4-fold lower odds of developing MS ( = 0.035). rs35073794 is associated with approximately 2.4-fold reduced odds of MS occurrence in the codominant, dominant, overdominant, and additive models ( < 0.001; < 0.001; < 0.001; < 0.001, respectively). Haplotype analysis shows that the rs1760904-G-rs1713418-A haplotype is statistically significantly associated with 1.75-fold increased odds of developing MS ( = 0.006). The rs12696304-C-rs35073794-A haplotype is statistically significantly associated with twofold decreased odds of developing MS ( = 0.008). In addition, the rs12696304-G-rs35073794-A haplotype was found to be statistically significantly associated with 5.3-fold decreased odds of developing MS ( < 0.001).

CONCLUSION

The current evidence may suggest a protective role of SNP in the occurrence of MS, while has the opposite effect.

摘要

未标注

多发性硬化症（MS）是一种中枢神经系统的慢性炎症性自身免疫疾病。根据最近的研究，端粒缩短导致的细胞衰老可能促成MS的发展。

研究目的

我们的目的是确定rs1760904、rs1713418、rs12696304、rs35073794基因多态性与MS发生之间的关联。

方法

该研究纳入了200例MS患者和230名健康对照。使用RT-PCR对rs1760904、rs1713418以及rs12696304、rs35073794进行基因分型。使用“IBM SPSS Statistics 29.0”程序对获得的数据进行分析。使用在线程序“SNPStats”进行单倍型分析。

结果

该单核苷酸多态性（SNP）的rs12696304 G等位基因与发生MS的几率降低1.4倍相关（P = 0.035）。在共显性、显性、超显性和加性模型中，rs35073794与MS发生几率降低约2.4倍相关（分别为P < 0.001；P < 0.001；P < 0.001；P < 0.001）。单倍型分析表明，rs1760904-G-rs1713418-A单倍型与发生MS的几率增加1.75倍在统计学上显著相关（P = 0.006）。rs12696304-C-rs35073794-A单倍型与发生MS的几率降低两倍在统计学上显著相关（P = 0.008）。此外，发现rs12696304-G-rs35073794-A单倍型与发生MS的几率降低5.3倍在统计学上显著相关（P < 0.001）。