|
Glaucoma, Primary Open Angle
|
0.350 |
Biomarker
|
disease |
BEFREE |
In addition to this finding, this genome-wide association study in POAG patients of AD contributes to POAG genetics by identification of novel signals in prior loci (9p21), as well as advancing the fine mapping of regions because of shorter average LD (FNDC3B).
|
30352225 |
2019 |
|
Glaucoma, Primary Open Angle
|
0.350 |
Biomarker
|
disease |
BEFREE |
After combining the genome-wide association study and the two replication sets, we identified 11 POAG-associated loci, including 4 known (CDKN2B-AS1, ABCA1, SIX6 and AFAP1) and 7 novel loci (FNDC3B, ANKRD55-MAP3K1, LMX1B, LHPP, HMGA2, MEIS2 and LOXL1) at a genome-wide significance level (P < 5.0×10-8), bringing the total number of POAG-susceptibility loci to 22.
|
29452408 |
2018 |
|
Glaucoma, Primary Open Angle
|
0.350 |
Biomarker
|
disease |
BEFREE |
To investigate the association between the additive effects of genetic variants associated with intraocular pressure (IOP) and IOP, vertical cup-to-disc ratio (VCDR), and high tension glaucoma (HTG) or normal tension glaucoma (NTG) as phenotypic features of primary open-angle glaucoma (POAG), and to evaluate the clinical usefulness of the additive effects of IOP-related genetic variants for predicting IOP elevation, Japanese patients with HTG (n = 255) and NTG (n = 261) and 246 control subjects were genotyped for nine IOP-related genetic variants near CAV2, GAS7, GLCCI1/ICA1, ABCA1, ARHGEF12, FAM125B, FNDC3B, ABO, and PTPRJ/AGBL2.
|
28832686 |
2017 |
|
Glaucoma, Primary Open Angle
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 × 10(-11) for rs2472493 near ABCA1 and P = 6.39 × 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10(-11) for rs747782).
|
25173106 |
2014 |
|
Glaucoma, Primary Open Angle
|
0.350 |
Biomarker
|
disease |
BEFREE |
FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls).
|
23291589 |
2013 |
|
Glaucoma, Primary Open Angle
|
0.350 |
Biomarker
|
disease |
CTD_human |
FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls).
|
23291589 |
2013 |
|
Keratoconus
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC.
|
25675348 |
2015 |
|
Keratoconus
|
0.330 |
Biomarker
|
disease |
CTD_human |
We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)).
|
23291589 |
2013 |
|
Keratoconus
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)).
|
23291589 |
2013 |
|
Keratoconus
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).
|
24265017 |
2013 |
|
Acute Promyelocytic Leukemia
|
0.300 |
Biomarker
|
disease |
CTD_human |
FNDC3B is another novel partner fused to RARA in the t(3;17)(q26;q21) variant of acute promyelocytic leukemia.
|
28314734 |
2017 |
|
Glaucoma, Open-Angle
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
|
23291589 |
2013 |
|
Secondary Open Angle Glaucoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
|
23291589 |
2013 |
|
Malignant neoplasm of breast
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Characterizing rare and low-frequency height-associated variants in the Japanese population.
|
31562340 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analyses of diverse populations improves discovery for complex traits.
|
31217584 |
2019 |
|
Waist-Hip Ratio
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Waist-Hip Ratio
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Red cell distribution width determination
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
RDW - Red blood cell distribution width result
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Tonometry
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association analyses identify new loci influencing intraocular pressure.
|
29617998 |
2018 |
|
Tonometry
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.
|
30054594 |
2018 |
|
Tonometry
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.
|
29785010 |
2018 |