scholarly journals A case–control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Ziarih Hawi ◽  
Hannah Yates ◽  
Ari Pinar ◽  
Aurina Arnatkeviciute ◽  
Beth Johnson ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Case Control ◽  
Genome Wide Association ◽  
Genome Wide ◽  
Novel Association

Common genetic variation and risk of gallbladder cancer in India: a case-control genome-wide association study

2017 ◽  
Vol 18 (4) ◽  
pp. 535-544 ◽  
Author(s):  
Sharayu Mhatre ◽  
Zhaoming Wang ◽  
Rajini Nagrani ◽  
Rajendra Badwe ◽  
Shubhada Chiplunkar ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Association Study ◽  
Gallbladder Cancer ◽  
Genome Wide Association Study ◽  
Case Control ◽  
Genome Wide Association ◽  
Common Genetic Variation ◽  
Genome Wide

scholarly journals Genome-wide association study of Alzheimer’s disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset

2019 ◽  
Author(s):  
Shengjun Hong ◽  
Dmitry Prokopenko ◽  
Valerija Dobricic ◽  
Fabian Kilpert ◽  
Isabelle Bos ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Biomarker Discovery ◽  
Case Control ◽  
Genome Wide Association ◽  
Great Promise ◽  
Phenotypic Traits ◽  
Genome Wide

AbstractAlzheimer’s disease (AD) is the most prevalent neurodegenerative disorder and the most common form of dementia in the elderly. Susceptibility to AD is considerably determined by genetic factors which hitherto were primarily identified using case-control designs. Elucidating the genetic architecture of additional AD-related phenotypic traits, ideally those linked to the underlying disease process, holds great promise in gaining deeper insights into the genetic basis of AD and in developing better clinical prediction models. To this end, we generated genome-wide single-nucleotide polymorphism (SNP) genotyping data in 931 participants of the European Medical Information Framework Alzheimer’s Disease Multimodal Biomarker Discovery (EMIF-AD MBD) sample to search for novel genetic determinants of AD biomarker variability. Specifically, we performed genome-wide association study (GWAS) analyses on 16 traits, including 14 measures of amyloid-beta (Aβ) and tau-protein species in the cerebrospinal fluid (CSF). In addition to confirming the well-established effects of apolipoprotein E (APOE) on diagnostic outcome and phenotypes related to Aβ42, we detected novel potential signals in the zinc finger homeobox 3 (ZFHX3) for CSF-Aβ38 and CSF-Aβ40 levels, and confirmed the previously described sex-specific association between SNPs in geminin coiled-coil domain containing (GMNC) and CSF-tau. Utilizing the results from independent case-control AD GWAS to construct polygenic risk scores (PRS) revealed that AD risk variants only explain a small fraction of CSF biomarker variability. In conclusion, our study represents a detailed first account of GWAS analyses on CSF-Aβ and -tau related traits in the EMIF-AD MBD dataset. In subsequent work, we will utilize the genomics data generated here in GWAS of other AD-relevant clinical outcomes ascertained in this unique dataset.

scholarly journals An Expanded Genome-Wide Association Study of Fructosamine Levels Identifies RCN3 as a Replicating Locus and Implicates FCGRT as the Effector Transcript

2021 ◽  
Author(s):  
Fernando Riveros-Mckay ◽  
David Roberts ◽  
Emanuele Di Angelantonio ◽  
Bing Yu ◽  
Nicole Soranzo ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
European Ancestry ◽  
Diabetes Diagnosis ◽  
Atherosclerosis Risk In Communities ◽  
Functional Studies ◽  
Genome Wide ◽  
Novel Association ◽  
Localization Analysis

Fructosamine is a measure of short-term glycemic control, which has been suggested as a useful complement to glycated hemoglobin (HbA1c) for the diagnosis and monitoring of diabetes. To date, a single genome-wide association study (GWAS) including 8,951 US White and 2,712 US Black individuals without a diabetes diagnosis has been published. Results in Whites and Blacks yielded different association loci, near <i>RCN3</i> and <i>CNTN5</i>, respectively. Here we performed a GWAS on 20,731 European ancestry blood donors, and meta-analysed our results with previous data from US White participants from The Atherosclerosis Risk in Communities (ARIC) study (N<sub>meta</sub>=29,685). We identified a novel association near <i>GCK</i> (rs3757840, beta<sub>meta</sub>=0.0062, MAF=0.49, <i>p<sub>meta</sub></i>=3.66x10<sup>-08</sup>) and confirmed the association near <i>RCN3</i> (rs113886122, beta<sub>meta</sub>=0.0134, MAF=0.17, <i>p<sub>meta</sub></i>= 5.71x10<sup>-18</sup>). Co-localization analysis with whole blood eQTL data suggested <i>FCGRT</i> as the effector transcript at the <i>RCN3</i> locus. We further showed that fructosamine has low heritability (h2=7.7%), has no significant genetic correlation with HbA1c and other glycemic traits in individuals without a diabetes diagnosis (p>0.05), but has evidence of shared genetic etiology with some anthropometric traits (Bonferroni corrected p<0.0012). Our results broaden knowledge of the genetic architecture of fructosamine and prioritize <i>FCGRT </i>for downstream functional studies at<i> </i>the established <i>RCN3</i> locus.

scholarly journals An Expanded Genome-Wide Association Study of Fructosamine Levels Identifies RCN3 as a Replicating Locus and Implicates FCGRT as the Effector Transcript

2021 ◽  
Author(s):  
Fernando Riveros-Mckay ◽  
David Roberts ◽  
Emanuele Di Angelantonio ◽  
Bing Yu ◽  
Nicole Soranzo ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
European Ancestry ◽  
Diabetes Diagnosis ◽  
Atherosclerosis Risk In Communities ◽  
Functional Studies ◽  
Genome Wide ◽  
Novel Association ◽  
Localization Analysis

Fructosamine is a measure of short-term glycemic control, which has been suggested as a useful complement to glycated hemoglobin (HbA1c) for the diagnosis and monitoring of diabetes. To date, a single genome-wide association study (GWAS) including 8,951 US White and 2,712 US Black individuals without a diabetes diagnosis has been published. Results in Whites and Blacks yielded different association loci, near <i>RCN3</i> and <i>CNTN5</i>, respectively. Here we performed a GWAS on 20,731 European ancestry blood donors, and meta-analysed our results with previous data from US White participants from The Atherosclerosis Risk in Communities (ARIC) study (N<sub>meta</sub>=29,685). We identified a novel association near <i>GCK</i> (rs3757840, beta<sub>meta</sub>=0.0062, MAF=0.49, <i>p<sub>meta</sub></i>=3.66x10<sup>-08</sup>) and confirmed the association near <i>RCN3</i> (rs113886122, beta<sub>meta</sub>=0.0134, MAF=0.17, <i>p<sub>meta</sub></i>= 5.71x10<sup>-18</sup>). Co-localization analysis with whole blood eQTL data suggested <i>FCGRT</i> as the effector transcript at the <i>RCN3</i> locus. We further showed that fructosamine has low heritability (h2=7.7%), has no significant genetic correlation with HbA1c and other glycemic traits in individuals without a diabetes diagnosis (p>0.05), but has evidence of shared genetic etiology with some anthropometric traits (Bonferroni corrected p<0.0012). Our results broaden knowledge of the genetic architecture of fructosamine and prioritize <i>FCGRT </i>for downstream functional studies at<i> </i>the established <i>RCN3</i> locus.

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