rs61816761, FLG;FLG-AS1

N. diseases: 43
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation GWASCAT Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. 31036433 2019
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation GWASCAT Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. 31619474 2019
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation GWASCAT Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study. 30552067 2019
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation BEFREE We genotyped single nucleotide polymorphisms (SNPs): -105/rs28665122 in SELS or SEPS1 (selenoprotein), three single nucleotide polymorphisms in IL18 (-105/rs360717, +183/rs5744292 and +1467/rs574456) and R501X/rs61816761 in FLG, the major locus associated with atopic dermatitis and predisposing to asthma, in a minimum of 6743 T1D cases and 7864 controls. 22069270 2011
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation BEFREE In the Polish patients with AD, the prevalence of FLG mutations was higher in patients with AD than in the controls and 2282del4 FLG mutation was more frequent than R501X, and it was associated with a 6-fold higher risk for AD development (P < 0.001; OR: 5.76), moderate or severe disease course, early onset of asthma and palmar hyperlinearity. 21426411 2011
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation BEFREE We found a highly significant association of the FLG null variants R501X- and 2282del4 with AD (combined genotype p < 0.0001) and asthma (combined genotype p < 0.0001). 19538357 2009
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation BEFREE FLG mutations R501X and 2282del4 were assayed in 1135 individuals ranging from 3 to 22 years old with asthma from Tayside and Dumfries, Scotland. 18307574 2008
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation BEFREE Association analysis of the 2 common FLG-null mutations R501X and 2282del4 and 3 recently identified rare FLG variants (R2447X, S3247X, 3702delG) was performed on our cross-sectional population of German children (n = 3099) recruited as part of the International Study of Asthma and Allergies in Childhood II in Munich (n = 1159) and Dresden (n = 1940). 18396323 2008
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation BEFREE We genotyped 2 loss-of-function FLG mutations (R501X and 2282del4) in white children (age 5-12 years) with mild to moderate asthma in the Childhood Asthma Management Program. 18073125 2007
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation BEFREE Mutations in FLG/(R501X and 2282del4) are reported to be strongly associated with AD and to influence asthma accompanying AD. 17301831 2007
Asthma
CUI: C0004096
Disease: Asthma
0.780 GeneticVariation BEFREE FLG mutations R501X and 2282del4 were assayed in 874 subjects 3 to 22 years old with asthma from Tayside. 17531295 2007