rs10164339 - EML2

Magnitude 2.0 · 2 studies on file

Reported associations

  • Genetic influences on brain and cognitive health and their interactions with cardiovascular conditions and depression - Nature communications (2024) · Zhukovsky P, Tio ES, Coughlan G, Bennett DA, Wang Y, Hohman TJ, Pizzagalli DA, Mulsant BH, Voineskos AN, Felsky D · PubMed 38890310

    ABSTRACT: Approximately 40% of dementia cases could be prevented or delayed by modifiable risk factors related to lifestyle and environment. These risk factors, such as depression and vascular disease, do not affect all individuals in the same way, likely due to inter-individual differences in genetics. However, the precise nature of how genetic risk profiles interact with modifiable risk factors to affect brain health is poorly understood. Here we combine multiple data resources, including genotyping and postmortem gene expression, to map the genetic landscape of brain structure and identify 367 loci associated with cortical thickness and 13 loci associated with white matter hyperintensities (P < 5×10−8), with several loci also showing a significant association with cognitive funct

  • Larger cerebral cortex is genetically correlated with greater frontal area and dorsal thickness - Proceedings of the National Academy of Sciences of the United States of America (2023) · Makowski C, Wang H, Srinivasan A, Qi A, Qiu Y, van der Meer D, Frei O, Zou J, Visscher PM, Yang J, Chen CH · PubMed 36893272

    ABSTRACT: Significance Adjusting vs. retaining global measures in analysis of brain MRI data has been a long-standing question and can have important implications for genomic studies of the cortex. Adjusting for global measures ensures that results for regions of interest are not confounded by overall larger brain size. However, adjusting for globals may throw away important signal when total and regional measures are correlated. We show that retaining vs. adjusting for global brain measures in genomic studies impacts gene discovery, particularly for fronto-parietal cortex. Understanding the genetic factors that contribute to expanded association areas in the human brain, such as the prefrontal cortex, can help provide mechanistic insight into higher human cognition and its unique developm


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