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Updated: Jul 25, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
Association of the BDNF rs6265 Polymorphism with Cognitive Impairment in Multiple Sclerosis: A Case-Control Study in
Adriana Aguayo-Arelis1, Brenda Viridiana Rabago-Barajas1, Ana Miriam Saldaña-Cruz2
1Departamento de Psicología Aplicada, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Ameca 46600, Mexico.
Abstract:
Cognition is a set of brain processes that allow the individual to interact with their environment. Multiple sclerosis (MS) is a chronic inflammatory disease that affects the cerebral white matter of the brain cortex and spinal cord, leading to cognitive impairment (CI) in 40-60% of the patients. Many studies have determined that CI is linked to genetic risk factors. We aimed to evaluate the association between BDNF gene rs6265 polymorphism and cognitive impairment in Mexican patients with MS by performing a case-control study. Mestizo-Mexican patients diagnosed with MS based on McDonald's criteria were enrolled. Cases were MS patients with CI (n = 31) while controls were MS patients without CI (n = 31). To measure cognitive functioning in MS patients, a neuropsychological screening battery for MS (NSB-MS) was used. Genotyping of the rs6265 gene variant was performed using quantitative real-time PCR (qPCR) with TaqMan probes. The results showed no statistically significant differences in sociodemographic and disease variables between case and control groups. qPCR analysis showed that there were 68% Val/Val wild-type homozygotes, 29% Val/Met polymorphic heterozygotes, and 3% Met/Met polymorphic homozygotes. The presence of BDNF gene rs6265 polymorphism showed an increased probability (3.6 times) of global cognitive impairment.
Insights
The brain-derived neurotrophic factor (BDNF) gene rs6265 polymorphism is associated with cognitive impairment in Mexican patients with multiple sclerosis (MS). This genetic variant increases the likelihood of developing cognitive deficits in individuals with MS.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Cognitive impairment (CI) affects 40-60% of multiple sclerosis (MS) patients, often linked to genetic factors.
- The brain-derived neurotrophic factor (BDNF) gene is implicated in cognitive functions and neuronal plasticity.
- Genetic variations, such as the BDNF rs6265 polymorphism, may influence susceptibility to CI in MS.
Purpose of the Study:
- To investigate the association between the BDNF gene rs6265 polymorphism and cognitive impairment in Mexican Mestizo-MS patients.
- To compare the frequency of BDNF rs6265 genotypes in MS patients with and without cognitive impairment.
Main Methods:
- A case-control study involving 62 Mexican Mestizo-MS patients (31 cases with CI, 31 controls without CI).
- Cognitive function assessed using the neuropsychological screening battery for MS (NSB-MS).
- Genotyping of the BDNF rs6265 polymorphism performed via quantitative real-time PCR (qPCR) using TaqMan probes.
Main Results:
- No significant differences in sociodemographic or disease variables between case and control groups.
- Genotype distribution: 68% Val/Val, 29% Val/Met, 3% Met/Met.
- The BDNF rs6265 polymorphism was associated with a 3.6-fold increased probability of global cognitive impairment in MS patients.
Conclusions:
- The BDNF gene rs6265 polymorphism is a potential genetic risk factor for cognitive impairment in Mexican Mestizo-MS patients.
- This finding highlights the role of specific genetic variants in the development of neurological deficits in multiple sclerosis.
- Further research is warranted to explore the functional mechanisms underlying this association.
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