Functional Implications of Genetic Variation in Non-Coding DNA for Disease Susceptibility and Gene Regulation

2002 ◽  
Vol 103 (s47) ◽  
pp. 1P-2P
Author(s):  
Julian Knight ◽  
Brendan Keating ◽  
Dominic Kwiatkowski
Keyword(s):  
Gene Regulation ◽  
Genetic Variation ◽  
Disease Susceptibility ◽  
Functional Implications

Functional implications of genetic variation in human PPARγ

2009 ◽  
Vol 20 (8) ◽  
pp. 380-387 ◽  
Author(s):  
Ellen H. Jeninga ◽  
Mark Gurnell ◽  
Eric Kalkhoven
Keyword(s):  
Genetic Variation ◽  
Functional Implications

The Functional Implications of Common Genetic Variation in CYP3A5 and ABCB1 in Human Proximal Tubule Cells

2015 ◽  
Vol 12 (3) ◽  
pp. 758-768 ◽  
Author(s):  
Noël Knops ◽  
Lambertus P. van den Heuvel ◽  
Rosalinde Masereeuw ◽  
Inge Bongaers ◽  
Henriëtte de Loor ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Proximal Tubule ◽  
Common Genetic Variation ◽  
Proximal Tubule Cells ◽  
Functional Implications ◽  
Tubule Cells ◽  
Human Proximal Tubule

scholarly journals Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

eLife ◽  
2013 ◽  
Vol 2 ◽  
Author(s):  
Maria Gutierrez-Arcelus ◽  
Tuuli Lappalainen ◽  
Stephen B Montgomery ◽  
Alfonso Buil ◽  
Halit Ongen ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Gene Regulation ◽  
Genetic Variation

scholarly journals Sites of active gene regulation in the prenatal frontal cortex and their role in neuropsychiatric disorders

2021 ◽  
Author(s):  
Manuela R. Kouakou ◽  
Darren Cameron ◽  
Eilis Hannon ◽  
Emma L. Dempster ◽  
Jonathan Mill ◽  
...  
Keyword(s):  
Gene Regulation ◽  
Major Depressive Disorder ◽  
Genetic Variation ◽  
Frontal Cortex ◽  
Fetal Brain ◽  
Neuropsychiatric Disorders ◽  
Open Chromatin ◽  
Major Depressive ◽  
Genomic Regions ◽  
Neuropsychiatric Conditions

Common genetic variation appears to largely influence risk for neuropsychiatric disorders through effects on gene regulation. It is therefore possible to shed light on the biology of these conditions by testing for enrichment of associated genetic variation within regulatory genomic regions operating in specific tissues or cell types. Here, we have used ATAC-Seq to map open chromatin (an index of active regulatory genomic regions) in bulk tissue, NeuN+ and NeuN- nuclei from the prenatal human frontal cortex, and tested enrichment of SNP heritability for 5 neuropsychiatric disorders (autism spectrum disorder, ADHD, bipolar disorder, major depressive disorder and schizophrenia) within these regions. We observed significant enrichment of SNP heritability for ADHD, major depressive disorder and schizophrenia within open chromatin regions mapped in bulk fetal frontal cortex, and for all 5 tested neuropsychiatric conditions when we restricted these sites to those overlapping histone modifications indicative of enhancers (H3K4me1) or promoters (H3K4me3) in fetal brain. SNP heritability for neuropsychiatric disorders was significantly enriched in open chromatin regions identified in fetal frontal cortex NeuN- as well as NeuN+ nuclei overlapping fetal brain H3K4me1 or H3K4me3 sites. We additionally demonstrate the utility of our mapped open chromatin regions for prioritizing potentially functional SNPs at genome-wide significant risk loci for neuropsychiatric disorders. Our data provide evidence for an early neurodevelopmental component to a range of neuropsychiatric conditions and highlight an important role for regulatory genomic regions active within both NeuN+ and NeuN- cells of the prenatal brain.

MHC and non-MHC gene regulation of disease susceptibility and disease course in experimental inflammatory peripheral neuropathy

2004 ◽  
Vol 155 (1-2) ◽  
pp. 73-84 ◽  
Author(s):  
Katrien L. de Graaf ◽  
Erik Wallström ◽  
Saad Muhallab ◽  
Karl-Heinz Wiesmüller ◽  
Tomas Olsson ◽  
...  
Keyword(s):  
Gene Regulation ◽  
Peripheral Neuropathy ◽  
Disease Susceptibility ◽  
Disease Course

MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer

2016 ◽  
Vol 37 (10) ◽  
pp. 1060-1073 ◽  
Author(s):  
Ignasi Torruella-Loran ◽  
Hafid Laayouni ◽  
Begoña Dobon ◽  
Alicia Gallego ◽  
Ingrid Balcells ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Population Analysis ◽  
Functional Implications

Apolipoprotein A-II, genetic variation on chromosome 1q21-q24, and disease susceptibility

2004 ◽  
Vol 15 (3) ◽  
pp. 247-253 ◽  
Author(s):  
Jes??s M Mart??n-Campos ◽  
Joan Carles Escol??-Gil ◽  
Vicent Ribas ◽  
Francisco Blanco-Vaca
Keyword(s):  
Genetic Variation ◽  
Disease Susceptibility ◽  
Apolipoprotein A ◽  
Chromosome 1Q21
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