scholarly journals A genome-wide association study of COVID-19 related hospitalization in Spain reveals genetic disparities among sexes

2021 ◽  
Author(s):  
◽  
Angel Carracedo
Keyword(s):  
Genetic Risk ◽  
Genome Wide Association Study ◽  
Genetic Risk Score ◽  
Genome Wide Association ◽  
Host Genetics ◽  
Genome Wide ◽  
A Genome ◽  
Meta Analyses ◽  
Novel Associations ◽  
Older Males

We describe the results of the Spanish Coalition to Unlock Research on Host Genetics on COVID-19 (SCOURGE). In sex-disaggregated genome-wide studies of COVID-19 hospitalization, we found two known loci associated among males (SLC6A20-LZTFL1 and IFNAR2), and a novel one among females (TLE1). Meta-analyses with independent studies revealed two novel associations (AQP3 and ARHGAP33) and replicated ELF5. A genetic risk score predicted COVID-19 severity, especially among younger males. We found less SNP-heritability and larger heritability differences by age (<60/≥60 years) among males than females. Inbreeding depression was associated with COVID-19 hospitalization and severity, and the effect was stronger among older males.

scholarly journals A Genome-Wide Association Study of the Frailty Index Highlights Synaptic Pathways in Aging

2019 ◽  
Author(s):  
Janice L Atkins ◽  
Juulia Jylhävä ◽  
Nancy L Pedersen ◽  
Patrik K Magnusson ◽  
Yi Lu ◽  
...  
Keyword(s):  
Association Study ◽  
Risk Score ◽  
Genetic Risk ◽  
Genome Wide Association Study ◽  
Genetic Risk Score ◽  
Frailty Index ◽  
Genome Wide Association ◽  
Uk Biobank ◽  
Genome Wide ◽  
A Genome

ABSTRACTFrailty is a common geriatric syndrome, strongly associated with disability, mortality and hospitalisation. The mechanisms underlying frailty are multifactorial and not well understood, but a genetic basis has been suggested with heritability estimates between 19 and 45%. Understanding the genetic determinants and biological mechanisms underpinning frailty may help to delay or even prevent frailty. We performed a genome-wide association study (GWAS) of a frailty index (FI) in European descent participants from UK Biobank (n=164,610, aged 60-70 years). FI calculation was based on 49 self-reported items on symptoms, disabilities and diagnosed diseases. We identified 26 independent genetic signals at 24 loci associated with the FI (p<5*10−8). Many of these loci have previously been associated with traits such as body mass index, cardiovascular disease, smoking, HLA proteins, depression and neuroticism; however, three appear to be novel. The estimated single nucleotide polymorphism (SNP) heritability of the FI was 14% (0.14, SE 0.006). A genetic risk score for the FI, derived solely from the UK Biobank data, was significantly associated with FI in the Swedish TwinGene study (n=10,616, beta: 0.11, 95% CI: 0.02-0.20, p=0.015). In pathway analysis, genes associated with synapse function were significantly enriched (p<3*10−6). We also used Mendelian randomization to identify modifiable traits and exposures that may affect the risk of frailty, with a higher educational attainment genetic risk score being associated with a lower risk of frailty. Risk of frailty is influenced by many genetic factors, including well-known disease risk factors and mental health, with particular emphasis on synapse maintenance pathways.

scholarly journals Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study

2009 ◽  
Vol 8 (1) ◽  
pp. 57-66 ◽  
Author(s):  
Simon Mead ◽  
Mark Poulter ◽  
James Uphill ◽  
John Beck ◽  
Jerome Whitfield ◽  
...  
Keyword(s):  
Risk Factors ◽  
Association Study ◽  
Genetic Risk ◽  
Genome Wide Association Study ◽  
Genetic Risk Factors ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome ◽  
Jakob Disease

scholarly journals Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study

2016 ◽  
Vol 17 (9) ◽  
pp. 1240-1247 ◽  
Author(s):  
Zheng Li ◽  
Yi Xia ◽  
Li-Na Feng ◽  
Jie-Rong Chen ◽  
Hong-Min Li ◽  
...  
Keyword(s):  
T Cell ◽  
Association Study ◽  
Genetic Risk ◽  
Genome Wide Association Study ◽  
Cell Lymphoma ◽  
Genome Wide Association ◽  
Natural Killer T Cell ◽  
Genome Wide ◽  
A Genome ◽  
Killer T Cell

scholarly journals Genetic associations with neuroendocrine tumor risk: results from a genome-wide association study

2016 ◽  
Vol 23 (8) ◽  
pp. 587-594 ◽  
Author(s):  
Yeting Du ◽  
Monica Ter-Minassian ◽  
Lauren Brais ◽  
Nichole Brooks ◽  
Amanda Waldron ◽  
...  
Keyword(s):  
Risk Factors ◽  
Small Intestine ◽  
Neuroendocrine Tumor ◽  
Neuroendocrine Tumors ◽  
Genetic Risk ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Dana Farber Cancer Institute ◽  
Genome Wide ◽  
A Genome

The etiology of neuroendocrine tumors remains poorly defined. Although neuroendocrine tumors are in some cases associated with inherited genetic syndromes, such syndromes are rare. The majority of neuroendocrine tumors are thought to be sporadic. We performed a genome-wide association study (GWAS) to identify potential genetic risk factors for sporadic neuroendocrine tumors. Using germline DNA from blood specimens, we genotyped 909,622 SNPs using the Affymetrix 6.0 GeneChip, in a cohort comprising 832 neuroendocrine tumor cases from Dana-Farber Cancer Institute and Massachusetts General Hospital and 4542 controls from the Harvard School of Public Health. An additional 241 controls from Dana-Farber Cancer Institute were used for quality control. We assessed risk associations in the overall cohort, and in neuroendocrine tumor subgroups. We identified no potential risk associations in the cohort overall. In the small intestine neuroendocrine tumor subgroup, comprising 293 cases, we identified risk associations with three SNPs on chromosome 12, all in strong LD. The three SNPs are located upstream of ELK3, a transcription factor implicated in angiogenesis. We did not identify clear risk associations in the bronchial or pancreatic neuroendocrine subgroups. This large-scale study provides initial evidence that presumed sporadic small intestine neuroendocrine tumors may have a genetic etiology. Our results provide a basis for further exploring the role of genes implicated in this analysis, and for replication studies to confirm the observed associations. Additional studies to evaluate potential genetic risk factors for sporadic pancreatic and bronchial neuroendocrine tumors are warranted.

Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study in multiple populations

2020 ◽  
Vol 21 (2) ◽  
pp. 306-316 ◽  
Author(s):  
Guo-Wang Lin ◽  
Caigang Xu ◽  
Kexin Chen ◽  
Hui-Qiang Huang ◽  
Jieping Chen ◽  
...  
Keyword(s):  
T Cell ◽  
Association Study ◽  
Genetic Risk ◽  
Genome Wide Association Study ◽  
Cell Lymphoma ◽  
Genome Wide Association ◽  
Natural Killer T Cell ◽  
Genome Wide ◽  
A Genome ◽  
Killer T Cell
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