Polycystic Ovary Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
PCOS has a strong genetic component, and genome-wide association studies have identified several candidate genes, notably DENND1A, which encodes connecdenn 1, involved in trafficking of endosomes.
|
27297658 |
2016 |
Myopia, Degenerative
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
|
23049088 |
2012 |
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
|
30108127 |
2018 |
Hyperandrogenism
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively).
|
25586784 |
2015 |
Anovulation
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively).
|
25586784 |
2015 |
Thyroid Gland Follicular Adenoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively).
|
25586784 |
2015 |
Anovulatory (finding)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively).
|
25586784 |
2015 |
mathematical ability
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
|
30038396 |
2018 |
Major Depressive Disorder
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
|
29700475 |
2018 |
Polycystic Ovary Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genome-wide association studies based on adequate population samples have shown a higher frequency of genetic polymorphisms of the LHCGR, THADA and DENND1A genes in women with PCOS.
|
25835506 |
2015 |
Polycystic Ovary Syndrome
|
0.200 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
|
22885925 |
2012 |
Polycystic Ovary Syndrome
|
0.200 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
|
22885925 |
2012 |
Polycystic Ovary Syndrome
|
0.200 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
|
21151128 |
2011 |
Polycystic Ovary Syndrome
|
0.200 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
|
21151128 |
2011 |
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
|
23517042 |
2013 |
Major Depressive Disorder
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.
|
30718901 |
2019 |
Polycystic Ovary Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs10818854 and rs13405728 in the THADA, DENND1A and LHCGR genes were identified as being independently associated with PCOS.
|
23208300 |
2013 |
Polycystic Ovary Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
In addition, GWAS have suggested that DENND1A, epidermal growth factor signaling, and DNA repair pathways play a role in PCOS pathogenesis.
|
26908109 |
2016 |
Hyperandrogenism
|
0.020 |
Biomarker
|
disease |
BEFREE |
Ingenuity® Pathway Analysis Core Pathway and Network Analyses suggest a network by which miR-130b-3p, DENND1A, the luteinizing hormone/choriogonadotropin receptor, Ras-related protein 5B, and signaling pathways that they potentially target may mediate hyperandrogenism in PCOS.
|
31184707 |
2019 |
Polycystic Ovary Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
Ingenuity® Pathway Analysis Core Pathway and Network Analyses suggest a network by which miR-130b-3p, DENND1A, the luteinizing hormone/choriogonadotropin receptor, Ras-related protein 5B, and signaling pathways that they potentially target may mediate hyperandrogenism in PCOS.
|
31184707 |
2019 |
Polycystic Ovary Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
It was suggested that the TT genotype of LHCGR rs13405728, CC genotype of THADA rs12478601 and AG + GG genotype of DENND1A rs2479106 had poor outcomes of IVF-ET in treating PCOS.
|
30844144 |
2019 |
Nervousness
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Item-level analyses reveal genetic heterogeneity in neuroticism.
|
29500382 |
2018 |
Polycystic Ovary Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
Knock-down of DENND1A.V2 in PCOS theca cells reduced androgen biosynthesis and CYP17A1 and CYP11A1 gene transcription.
|
24706793 |
2014 |
Polycystic Ovary Syndrome
|
0.200 |
GeneticVariation
|
disease |
GWASCAT |
Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
|
30566500 |
2018 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |