Department of Anesthesiology, University Illinois, Chicago, IL, USA.
VA Multiple Sclerosis Center of Excellence-East, Washington, DC, USA; George Washington University School of Medicine in Washington, DC, USA; Department of Neurology, University Maryland, Baltimore, MD, USA.
Mult Scler Relat Disord. 2021 Oct;55:103185. doi: 10.1016/j.msard.2021.103185. Epub 2021 Aug 2.
We previously reported that the single nucleotide polymorphism (SNP) rs9282860 in serine threonine kinase 11 (STK11) gene which codes for liver kinase B1 (LKB1) has higher prevalence in White relapsing-remitting multiple sclerosis (RRMS) patients than controls. However it is not known if this SNP is a risk factor for MS in other populations.
We assessed the prevalence of the STK11 SNP in samples collected from African American (AA) persons with MS (PwMS) and controls at multiple Veterans Affairs (VA) Medical Centers and from a network of academic MS centers. Genotyping was carried out using a specific Taqman assay. Comparisons of SNP frequencies were made using Fisher's exact test to determine significance and odds ratios. Group means were compared by appropriate t-tests based on normality and variance using SPSS V27.
There were no significant differences in average age at first symptom onset, age at diagnosis, disease duration, or disease severity between RRMS patients recruited from VAMCs versus non-VAMCs. The SNP was more prevalent in AA than White PwMS, however only in secondary progressive MS (SPMS) patients was that difference statistically significant. AA SPMS patients had higher STK11 SNP prevalence than controls; and in that cohort the SNP was associated with older age at symptom onset and at diagnosis.
The results suggest that the STK11 SNP represents a risk factor for SPMS in AA patients, and can influence both early (onset) and later (conversion to SPMSS) events.
我们之前报道过，丝氨酸苏氨酸激酶 11（STK11）基因中的单核苷酸多态性（SNP）rs9282860 编码肝激酶 B1（LKB1），在白人复发性缓解型多发性硬化症（RRMS）患者中比对照组更为常见。然而，目前尚不清楚该 SNP 是否是其他人群多发性硬化症的危险因素。
我们评估了来自多个退伍军人事务部（VA）医疗中心和学术多发性硬化症中心网络的非洲裔美国人（AA）多发性硬化症患者（PwMS）和对照组中 STK11 SNP 的患病率。采用特定的 Taqman 检测法进行基因分型。采用 Fisher 确切检验比较 SNP 频率，以确定显著性和优势比。根据正态性和方差，使用 SPSS V27 中的适当 t 检验比较组平均值。
从 VA 招募的 RRMS 患者与非 VA 招募的 RRMS 患者在首次症状发作年龄、诊断年龄、疾病持续时间或疾病严重程度方面无显著差异。SNP 在 AA 中比白人 PwMS 更为常见，但仅在继发性进行性多发性硬化症（SPMS）患者中具有统计学意义。AA SPMS 患者的 STK11 SNP 患病率高于对照组；在该队列中，SNP 与症状发作和诊断时的年龄较大相关。
结果表明，STK11 SNP 代表 AA 患者 SPMS 的危险因素，可影响早期（发病）和晚期（向 SPMS 转化）事件。
