Thesis

Studies on the potential association of GRIN2B and DRD4 variants with cognitive scores of Wilson disease patients

by Prakriti Jana

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Masters thesis — Sister Nivedita University, 2025. Full text: https://archive.org/details/sgng.20656-studies-on-the-potential-association-of-grin2b-and-drd4-variants-

Arguments (1)

argument #823

Studies on the potential association of GRIN2B and DRD4 variants with cognitive scores of Wilson disease patients

A clean demonstration that a single allele can be protective and risky at once depending on the cognitive domain — the reason gene-phenotype findings resist headline simplification.

In Indian Wilson disease patients, GRIN2B and DRD4 polymorphisms act as cognitive modifier genes — the GRIN2B T/T genotype predicts poorer immediate recall and conflict resolution but protects verbal fluency, while the DRD4 C allele protects executive and spatial function yet risks delayed recall when homozygous. Allele effects are domain-specific, never uniformly good or bad.

Why it matters

A clean demonstration that a single allele can be protective and risky at once depending on the cognitive domain — the reason gene-phenotype findings resist headline simplification.

Use when: Genes don't confer "better" or "worse" cognition — effects are domain-specific; the same allele can protect one faculty while eroding another.

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