FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1969874328> ?p ?o ?g. }

• W1969874328 endingPage "e1002707" @default.
• W1969874328 startingPage "e1002707" @default.
• W1969874328 abstract "Genetic variants that modify brain gene expression may also influence risk for human diseases. We measured expression levels of 24,526 transcripts in brain samples from the cerebellum and temporal cortex of autopsied subjects with Alzheimer's disease (AD, cerebellar n=197, temporal cortex n=202) and with other brain pathologies (non-AD, cerebellar n=177, temporal cortex n=197). We conducted an expression genome-wide association study (eGWAS) using 213,528 cisSNPs within ± 100 kb of the tested transcripts. We identified 2,980 cerebellar cisSNP/transcript level associations (2,596 unique cisSNPs) significant in both ADs and non-ADs (q<0.05, p=7.70 × 10(-5)-1.67 × 10(-82)). Of these, 2,089 were also significant in the temporal cortex (p=1.85 × 10(-5)-1.70 × 10(-141)). The top cerebellar cisSNPs had 2.4-fold enrichment for human disease-associated variants (p<10(-6)). We identified novel cisSNP/transcript associations for human disease-associated variants, including progressive supranuclear palsy SLCO1A2/rs11568563, Parkinson's disease (PD) MMRN1/rs6532197, Paget's disease OPTN/rs1561570; and we confirmed others, including PD MAPT/rs242557, systemic lupus erythematosus and ulcerative colitis IRF5/rs4728142, and type 1 diabetes mellitus RPS26/rs1701704. In our eGWAS, there was 2.9-3.3 fold enrichment (p<10(-6)) of significant cisSNPs with suggestive AD-risk association (p<10(-3)) in the Alzheimer's Disease Genetics Consortium GWAS. These results demonstrate the significant contributions of genetic factors to human brain gene expression, which are reliably detected across different brain regions and pathologies. The significant enrichment of brain cisSNPs among disease-associated variants advocates gene expression changes as a mechanism for many central nervous system (CNS) and non-CNS diseases. Combined assessment of expression and disease GWAS may provide complementary information in discovery of human disease variants with functional implications. Our findings have implications for the design and interpretation of eGWAS in general and the use of brain expression quantitative trait loci in the study of human disease genetics." @default.
• W1969874328 created "2016-06-24" @default.
• W1969874328 creator A5005195577 @default.
• W1969874328 creator A5009533777 @default.
• W1969874328 creator A5010157023 @default.
• W1969874328 creator A5013727426 @default.
• W1969874328 creator A5020266650 @default.
• W1969874328 creator A5020651939 @default.
• W1969874328 creator A5020865969 @default.
• W1969874328 creator A5024030735 @default.
• W1969874328 creator A5028753204 @default.
• W1969874328 creator A5029871478 @default.
• W1969874328 creator A5030588426 @default.
• W1969874328 creator A5031018824 @default.
• W1969874328 creator A5037436368 @default.
• W1969874328 creator A5040519239 @default.
• W1969874328 creator A5044404099 @default.
• W1969874328 creator A5045246745 @default.
• W1969874328 creator A5046953046 @default.
• W1969874328 creator A5051222892 @default.
• W1969874328 creator A5056889293 @default.
• W1969874328 creator A5057196521 @default.
• W1969874328 creator A5069324665 @default.
• W1969874328 creator A5077545737 @default.
• W1969874328 creator A5077632970 @default.
• W1969874328 creator A5080705428 @default.
• W1969874328 creator A5083927549 @default.
• W1969874328 creator A5088138090 @default.
• W1969874328 creator A5088891117 @default.
• W1969874328 creator A5091046259 @default.
• W1969874328 creator A5091305213 @default.
• W1969874328 creator A5091373999 @default.
• W1969874328 creator A5091854106 @default.
• W1969874328 date "2012-06-07" @default.
• W1969874328 modified "2023-10-16" @default.
• W1969874328 title "Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants" @default.
• W1969874328 cites W14845191 @default.
• W1969874328 cites W1964895626 @default.
• W1969874328 cites W1966831629 @default.
• W1969874328 cites W1969296365 @default.
• W1969874328 cites W1975262530 @default.
• W1969874328 cites W1980725116 @default.
• W1969874328 cites W1993629674 @default.
• W1969874328 cites W1999887312 @default.
• W1969874328 cites W2004950789 @default.
• W1969874328 cites W2008352401 @default.
• W1969874328 cites W2011200428 @default.
• W1969874328 cites W2014606320 @default.
• W1969874328 cites W2018907079 @default.
• W1969874328 cites W2019983262 @default.
• W1969874328 cites W2026255377 @default.
• W1969874328 cites W2031355052 @default.
• W1969874328 cites W2031580483 @default.
• W1969874328 cites W2033552121 @default.
• W1969874328 cites W2043842514 @default.
• W1969874328 cites W2050252352 @default.
• W1969874328 cites W2052742260 @default.
• W1969874328 cites W2059742736 @default.
• W1969874328 cites W2060181803 @default.
• W1969874328 cites W2067245109 @default.
• W1969874328 cites W2069298307 @default.
• W1969874328 cites W2070015764 @default.
• W1969874328 cites W2076404202 @default.
• W1969874328 cites W2083116825 @default.
• W1969874328 cites W2090808827 @default.
• W1969874328 cites W2091576663 @default.
• W1969874328 cites W2095900239 @default.
• W1969874328 cites W2101889545 @default.
• W1969874328 cites W2106608030 @default.
• W1969874328 cites W2112087830 @default.
• W1969874328 cites W2114453682 @default.
• W1969874328 cites W2117446594 @default.
• W1969874328 cites W2118308505 @default.
• W1969874328 cites W2121820194 @default.
• W1969874328 cites W2124655419 @default.
• W1969874328 cites W2130453306 @default.
• W1969874328 cites W2133520037 @default.
• W1969874328 cites W2138746692 @default.
• W1969874328 cites W2139487710 @default.
• W1969874328 cites W2142392444 @default.
• W1969874328 cites W2145090915 @default.
• W1969874328 cites W2145210308 @default.
• W1969874328 cites W2148641246 @default.
• W1969874328 cites W2149541458 @default.
• W1969874328 cites W2150523249 @default.
• W1969874328 cites W2152119060 @default.
• W1969874328 cites W2154945114 @default.
• W1969874328 cites W2154998360 @default.
• W1969874328 cites W2156220037 @default.
• W1969874328 cites W2157752701 @default.
• W1969874328 cites W2161164720 @default.
• W1969874328 cites W2161633633 @default.
• W1969874328 cites W2165833209 @default.
• W1969874328 cites W2167668076 @default.
• W1969874328 cites W2217809488 @default.
• W1969874328 cites W3214092816 @default.
• W1969874328 doi "https://doi.org/10.1371/journal.pgen.1002707" @default.
• W1969874328 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3369937" @default.

• next