scholarly journals A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

2015 ◽  
Vol 36 (10) ◽  
pp. 2904.e13-2904.e26 ◽  
Author(s):  
Raffaele Ferrari ◽  
Mario Grassi ◽  
Erika Salvi ◽  
Barbara Borroni ◽  
Fernando Palluzzi ◽  
...  
Keyword(s):  
Risk Factors ◽  
Frontotemporal Dementia ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Factors Associated ◽  
Genome Wide ◽  
A Genome

scholarly journals Genetics of Keratoconus: Where Do We Stand?

2014 ◽  
Vol 2014 ◽  
pp. 1-11 ◽  
Author(s):  
Khaled K. Abu-Amero ◽  
Abdulrahman M. Al-Muammar ◽  
Altaf A. Kondkar
Keyword(s):  
Risk Factors ◽  
Candidate Gene ◽  
Genetic Risk ◽  
Current Knowledge ◽  
Genetic Risk Factors ◽  
Factors Associated ◽  
Genetic Components ◽  
Genome Wide ◽  
Molecular Etiology

Keratoconus is a progressive thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive powers, and reduced vision. Keratoconus has a complex multifactorial etiology, with environmental, behavioral, and multiple genetic components contributing to the disease pathophysiology. Using genome-wide and candidate gene approaches several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease. The review focuses on current knowledge of these genetic risk factors associated with keratoconus.

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 The ABCC4 gene is associated with pyometra in golden retriever dogs

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Maja Arendt ◽  
Aime Ambrosen ◽  
Tove Fall ◽  
Marcin Kierczak ◽  
Katarina Tengvall ◽  
...  
Keyword(s):  
Risk Factors ◽  
Genetic Risk ◽  
Mixed Model ◽  
Genome Wide Association Study ◽  
Genetic Risk Factors ◽  
Disease Development ◽  
Mixed Model Approach ◽  
Genome Wide ◽  
A Genome ◽  
Increased Risk

AbstractPyometra is one of the most common diseases in female dogs, presenting as purulent inflammation and bacterial infection of the uterus. On average 20% of intact female dogs are affected before 10 years of age, a proportion that varies greatly between breeds (3–66%). The clear breed predisposition suggests that genetic risk factors are involved in disease development. To identify genetic risk factors associated with the disease, we performed a genome-wide association study (GWAS) in golden retrievers, a breed with increased risk of developing pyometra (risk ratio: 3.3). We applied a mixed model approach comparing 98 cases, and 96 healthy controls and identified an associated locus on chromosome 22 (p = 1.2 × 10–6, passing Bonferroni corrected significance). This locus contained five significantly associated SNPs positioned within introns of the ATP-binding cassette transporter 4 (ABCC4) gene. This gene encodes a transmembrane transporter that is important for prostaglandin transport. Next generation sequencing and genotyping of cases and controls subsequently identified four missense SNPs within the ABCC4 gene. One missense SNP at chr22:45,893,198 (p.Met787Val) showed complete linkage disequilibrium with the associated GWAS SNPs suggesting a potential role in disease development. Another locus on chromosome 18 overlapping the TESMIN gene, is also potentially implicated in the development of the disease.

P6017 A high density genome-wide scan for genetic risk factors of insect bite hypersensitivity (IBH): A Horsegene Project Initiative

2016 ◽  
Vol 94 (suppl_4) ◽  
pp. 156-157
Author(s):  
B. D. Velie ◽  
M. Shrestha ◽  
L. Francois ◽  
A. Schurink ◽  
A. Stinckens ◽  
...  
Keyword(s):  
Risk Factors ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
High Density ◽  
Genome Wide ◽  
Insect Bite Hypersensitivity ◽  
Genome Wide Scan

scholarly journals Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk

2019 ◽  
Vol 28 (20) ◽  
pp. 3498-3513 ◽  
Author(s):  
Jennie G Pouget ◽  
Buhm Han ◽  
Yang Wu ◽  
Emmanuel Mignot ◽  
Hanna M Ollila ◽  
...  
Keyword(s):  
Risk Factors ◽  
Ulcerative Colitis ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Phenotypic Correlation ◽  
Biliary Cirrhosis ◽  
Genome Wide ◽  
Shared Genetic

Abstract Many immune diseases occur at different rates among people with schizophrenia compared to the general population. Here, we evaluated whether this phenomenon might be explained by shared genetic risk factors. We used data from large genome-wide association studies to compare the genetic architecture of schizophrenia to 19 immune diseases. First, we evaluated the association with schizophrenia of 581 variants previously reported to be associated with immune diseases at genome-wide significance. We identified five variants with potentially pleiotropic effects. While colocalization analyses were inconclusive, functional characterization of these variants provided the strongest evidence for a model in which genetic variation at rs1734907 modulates risk of schizophrenia and Crohn’s disease via altered methylation and expression of EPHB4—a gene whose protein product guides the migration of neuronal axons in the brain and the migration of lymphocytes towards infected cells in the immune system. Next, we investigated genome-wide sharing of common variants between schizophrenia and immune diseases using cross-trait LD score regression. Of the 11 immune diseases with available genome-wide summary statistics, we observed genetic correlation between six immune diseases and schizophrenia: inflammatory bowel disease (rg = 0.12 ± 0.03, P = 2.49 × 10−4), Crohn’s disease (rg = 0.097 ± 0.06, P = 3.27 × 10−3), ulcerative colitis (rg = 0.11 ± 0.04, P = 4.05 × 10–3), primary biliary cirrhosis (rg = 0.13 ± 0.05, P = 3.98 × 10−3), psoriasis (rg = 0.18 ± 0.07, P = 7.78 × 10–3) and systemic lupus erythematosus (rg = 0.13 ± 0.05, P = 3.76 × 10–3). With the exception of ulcerative colitis, the degree and direction of these genetic correlations were consistent with the expected phenotypic correlation based on epidemiological data. Our findings suggest shared genetic risk factors contribute to the epidemiological association of certain immune diseases and schizophrenia.

scholarly journals Genetic risk factors associated with NAFLD

2020 ◽  
Vol 2020 ◽  
Author(s):  
Dong Yun Kim ◽  
Jun Yong Park
Keyword(s):  
Risk Factors ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Factors Associated

Clinical and genetic risk factors associated with suicidality in Korean patients with mood disorders

2017 ◽  
Vol 27 ◽  
pp. S873-S874
Author(s):  
S.I. Kim ◽  
H.Y. Choi ◽  
W.J. Lim ◽  
E.J. Kim ◽  
Y.C. Kim ◽  
...  
Keyword(s):  
Risk Factors ◽  
Mood Disorders ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Factors Associated ◽  
Korean Patients

scholarly journals Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

2010 ◽  
Vol 42 (6) ◽  
pp. 520-524 ◽  
Author(s):  
Omar M E Albagha ◽  
Micaela R Visconti ◽  
Nerea Alonso ◽  
Anne L Langston ◽  
Tim Cundy ◽  
...  
Keyword(s):  
Risk Factors ◽  
Association Study ◽  
Genetic Risk ◽  
Genome Wide Association Study ◽  
Paget’S Disease ◽  
Genetic Risk Factors ◽  
Paget's Disease ◽  
Genome Wide Association ◽  
Paget's Disease Of Bone ◽  
Genome Wide

scholarly journals Identification of genetic risk factors associated with ischaemic stroke in young Mexican patients

2019 ◽  
Author(s):  
M.C. Jiménez-González ◽  
D. Santiago-Germán ◽  
E.F. Castillo-Henkel ◽  
J.A. Alvarado-Moreno ◽  
J. Hernández-Juárez ◽  
...  
Keyword(s):  
Risk Factors ◽  
Ischaemic Stroke ◽  
Genetic Risk ◽  
Genetic Risk Factors ◽  
Factors Associated ◽  
Stroke In Young ◽  
Mexican Patients
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