Severity Variant rs10191329 has no Effect on Prognostic Factors, Serum GFAP Levels and Cognitive Impairment in Turkish Patients With Multiple Sclerosis
Zeynep Kaya Dogu1, Songul Purtuloglu2, Yunus Terzi2, Zerrin Celik2, Birsen Can Demirdogen3, Eda Derle ciftci1, Munire Kilinc Toprak1
1Neurology, 2Medical Genetics, Baskent University Hospitals, 3Biomedical Engineering, TOBB University of Economics and Technology
Objective:
Our case-control study investigated the effect of carrying the rs10191329*A allele on prognostic factors, serum GFAP (sGFAP) levels and cognitive decline in Turkish multiple sclerosis (MS) patients.
Background:
rs10191329C>A variant has been linked to MS severity and brain atrophy. However, there are inconsistent findings in literature. 
Design/Methods:

Demographics and clinical characteristics of 174 patients were recorded. Disease severity was assessed using EDSS and MSSS. Cognitive functions were evaluated with the BICAMS battery, consisting of SDMT, CVLT-II, and BVMT-R tests. Genotyping was performed using a specific TaqMan probe. sGFAP levels were measured by ELISA. Statistical analyses were conducted with SPSS v25.

Results:

131 patients (75.3%) were female; mean age was 39.9 and mean age at diagnosis was 29.1 years. The median disease duration was 10.1 years. 17 (9.8%) had SPMS, 11 (6.3%) had PPMS, and 146 (83.9%) had RRMS phenotypes. Median EDSS and MSSS were 2.0 and 3.73, respectively. Forty patients (25.6%) had allele A, all heterozygous. Genotype groups were similar in terms of demographics and EDSS and MSSS scores. Variant allele had no effect on number of relapses, time between first two relapses, treatments used, or walking aid requirement (p>0.05). Twenty-nine patients had at least one family member with MS, no difference regarding rs10191329 allele.

Cognitive impairment in at least one domain was observed in 77% of patients; 53.4% on SDMT, 52.2% on CVLT-II, and 46.6% on BVMT-R. Analyses showed that the variant allele-carriers had similar BICAMS scores (p>0.05).

Similarly, sGFAP levels—previously linked to progressive MS—did not differ by genotype (p>0.05).

Conclusions:

In our study, no association was found among rs10191329*A genotype and prognostic factors, sGFAP levels, or cognitive decline in Turkish MS patients. Conflicting results in literature may stem from study size, genetic variability, and differences in treatment exposure. These findings underscore the importance of cautious interpretation and replication in diverse populations.

10.1212/WNL.0000000000215436
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