rs1096699 - XPO5, POLR1C

Magnitude 2.2 · 2 studies on file

Reported associations

• Genetics of 35 blood and urine biomarkers in the UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 33462484

  ABSTRACT: Clinical laboratory tests are a critical component of the continuum of care. We evaluate the genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n=363,228 individuals). We identify 1,857 loci associated with at least one trait, containing 3,374 fine-mapped associations, and additional sets of large-effect (> 0.1 sd) protein-altering, HLA, and copy-number variant associations. Through Mendelian Randomization analysis, we discover 51 causal relationships, including previously known agonistic effects of urate on gout and cystatin C on stroke. Finally, we develop polygenic risk scores for each biomarker and built 'multi-PRS' models for diseases using 35 PRSs simultaneously, which improved chronic kidney disease, type 2 diabetes, gout, and alcoholic cirr

• Larger cerebral cortex is genetically correlated with greater frontal area and dorsal thickness - Unknown journal (n.d.) · Unknown authors · 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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