Vera Fominykh

• Gurholt, Tiril Pedersen; Borda, Miguel Germán; Parker, Nadine; Fominykh, Vera; Kjelkenes, Rikka & Linge, Jennifer [Show all 12 contributors for this article] (2024). Linking sarcopenia, brain structure and cognitive performance: a large-scale UK Biobank study. Brain Communications. ISSN 2632-1297. 6(2). doi: 10.1093/braincomms/fcae083.
• Karadag, Naz; Shadrin, Alexey; O'Connell, Kevin Sean; Hindley, Guy Frederick Lanyon; Rahman, Zillur & Parker, Nadine [Show all 18 contributors for this article] (2023). Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders. Brain. ISSN 0006-8950. 146(8), p. 3392–3403. doi: 10.1093/brain/awad038. Full text in Research Archive
• Reas, Emilie T.; Shadrin, Alexey; Frei, Oleksandr; Motazedi, Ehsan; McEvoy, Linda & Bahrami, Shahram [Show all 22 contributors for this article] (2023). Improved multimodal prediction of progression from MCI to Alzheimer's disease combining genetics with quantitative brain MRI and cognitive measures. Alzheimer's & Dementia. ISSN 1552-5260. 19(11), p. 5151–5158. doi: 10.1002/alz.13112. Full text in Research Archive
• Fominykh, Vera; Shadrin, Alexey; Jaholkowski, Piotr Pawel; Bahrami, Shahram; Athanasiu, Lavinia & Wightman, Douglas P. [Show all 13 contributors for this article] (2023). Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system. Neurobiology of Disease. ISSN 0969-9961. 183. doi: 10.1016/j.nbd.2023.106174. Full text in Research Archive Show summary

  Background Neuroinflammation is involved in the pathophysiology of Alzheimer's disease (AD), including immune-linked genetic variants and molecular pathways, microglia and astrocytes. Multiple Sclerosis (MS) is a chronic, immune-mediated disease with genetic and environmental risk factors and neuropathological features. There are clinical and pathobiological similarities between AD and MS. Here, we investigated shared genetic susceptibility between AD and MS to identify putative pathological mechanisms shared between neurodegeneration and the immune system. Methods We analysed GWAS data for late-onset AD (N cases = 64,549, N controls = 634,442) and MS (N cases = 14,802, N controls = 26,703). Gaussian causal mixture modelling (MiXeR) was applied to characterise the genetic architecture and overlap between AD and MS. Local genetic correlation was investigated with Local Analysis of [co]Variant Association (LAVA). The conjunctional false discovery rate (conjFDR) framework was used to identify the specific shared genetic loci, for which functional annotation was conducted with FUMA and Open Targets. Results MiXeR analysis showed comparable polygenicities for AD and MS (approximately 1800 trait-influencing variants) and genetic overlap with 20% of shared trait-influencing variants despite negligible genetic correlation (rg = 0.03), suggesting mixed directions of genetic effects across shared variants. conjFDR analysis identified 16 shared genetic loci, with 8 having concordant direction of effects in AD and MS. Annotated genes in shared loci were enriched in molecular signalling pathways involved in inflammation and the structural organisation of neurons. Conclusions Despite low global genetic correlation, the current results provide evidence for polygenic overlap between AD and MS. The shared loci between AD and MS were enriched in pathways involved in inflammation and neurodegeneration, highlighting new opportunities for future investigation.

• Jaholkowski, Piotr; Shadrin, Alexey A.; Jangmo, Andreas; Frei, Evgeniia; Woldeyohannes, Markos Tesfaye & Hindley, Guy F. L. [Show all 23 contributors for this article] (2023). Associations Between Symptoms of Premenstrual Disorders and Polygenic Liability for Major Psychiatric Disorders. JAMA psychiatry. ISSN 2168-6238. 80(7), p. 738–742. doi: 10.1001/jamapsychiatry.2023.1137.

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