Genetics of Keratoconus: Where Do We Stand?

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.

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Genetics in Keratoconus – What is New?

The Open Ophthalmology Journal ◽

10.2174/1874364101711010201 ◽

2017 ◽

Vol 11 (1) ◽

pp. 201-210 ◽

Cited By ~ 5

Author(s):

Sarah Moussa ◽

Günther Grabner ◽

Josef Ruckhofer ◽

Marie Dietrich ◽

Herbert Reitsamer

Keyword(s):

Risk Factors ◽

Genetic Risk ◽

Current Knowledge ◽

Genetic Risk Factors ◽

Blurred Vision ◽

Factors Associated ◽

Molecular Etiology ◽

Irregular Astigmatism

Background: Keratoconus is characterized as a bilateral, progressive, non-inflammatory thinning of the cornea resulting in blurred vision due to irregular astigmatism. Keratoconus has a multifactorial etiology, with multiple genetic and environmental components contributing to the disease pathophysiology. Several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease. Conclusion: The review focuses on current knowledge of these genetic risk factors associated with keratoconus.

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

Neurobiology of Aging ◽

10.1016/j.neurobiolaging.2015.06.005 ◽

2015 ◽

Vol 36 (10) ◽

pp. 2904.e13-2904.e26 ◽

Cited By ~ 24

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

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

Journal of Animal Science ◽

10.2527/jas2016.94supplement4156a ◽

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

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

Human Molecular Genetics ◽

10.1093/hmg/ddz145 ◽

2019 ◽

Vol 28 (20) ◽

pp. 3498-3513 ◽

Cited By ~ 15

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.

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