|
rs116855232
|
|
|
0.750 |
GeneticVariation |
GWASCAT |
We confirmed the association of NUDT15 p.Arg139Cys with leukopenia and alopecia (p = 2.20E-63, 1.32E-69, OR = 6.59, 12.1, respectively), and found a novel association with digestive symptoms (p = 6.39E-04, OR = 1.89).
|
29923122 |
2018 |
|
rs116855232
|
|
|
0.750 |
GeneticVariation |
BEFREE |
NUDT15 R139C (rs116855232) is a recently identified genetic factor responsible for thiopurine-induced leukocytopenia and hair loss.
|
26590936 |
2016 |
|
rs116855232
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Extensive hair loss was a recognizable early symptom in patients with the homozygous NUDT15 c.415C>T variant.
|
26735160 |
2016 |
|
rs116855232
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Therefore, the NUDT15 p.R139C variant is common and strongly associated with AZA-induced early leukopenia and severe alopecia in Korean patients with various neurological diseases.
|
28566182 |
2017 |
|
rs116855232
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We confirmed the association of NUDT15 p.Arg139Cys with leukopenia and alopecia (p = 2.20E-63, 1.32E-69, OR = 6.59, 12.1, respectively), and found a novel association with digestive symptoms (p = 6.39E-04, OR = 1.89).
|
29923122 |
2018 |
|
rs116855232
|
|
|
0.750 |
GeneticVariation |
BEFREE |
NUDT R139C was significantly associated with early severe hair loss in Japanese patients with IBD.
|
26076924 |
2016 |
|
rs9282858
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Our study provides evidence that the SRD5A2 A49T A variant is associated with an increased risk of prostate cancer, lower levels of circulating 3alpha-diolG and decreased risk of baldness.
|
17136762 |
2007 |
|
rs117927258
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study.
|
29923122 |
2018 |
|
rs145080284
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study.
|
29923122 |
2018 |
|
rs75466870
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study.
|
29923122 |
2018 |
|
rs78844412
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study.
|
29923122 |
2018 |
|
rs2476601
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata: A meta-analysis of case-control studies.
|
31096440 |
2019 |
|
rs2476601
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata.
|
18028494 |
2008 |
|
rs2476601
|
|
|
0.040 |
GeneticVariation |
BEFREE |
PTPN22 1858C>T gene polymorphism has been associated with several autoimmune disorders including alopecia areata.
|
23570882 |
2013 |
|
rs2476601
|
|
|
0.040 |
GeneticVariation |
BEFREE |
These results suggest that the non-synonymous C1858T substitution in the PTPN22 gene may have an influence on the severity of alopecia areata and provide further evidence for autoimmunity as an aetiological factor in this disorder.
|
16829308 |
2006 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The results suggest that MTHFR gene C677T mutation may have an effect on the risk of alopecia areata in the Turkish population.
|
23954881 |
2013 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Of these, only the MTHFR 677 C --> T SNP was associated with alopecia, and only in African Americans (p = 0.032).
|
18381794 |
2008 |
|
rs1057517491
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cx26-G45E mice displayed reduced viability, hyperkeratosis, scaling, skin folds, and hair loss.
|
22031297 |
2011 |
|
rs111238176
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a hospital-based case-control study of 84 patients with alopecia areata and 84 controls, we genotyped FAS 1377G>A, FAS 670A>G and FASLG 844T>C polymorphisms and assessed their association with alopecia areata risk.
|
20394629 |
2010 |
|
rs116548533
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Without affecting the expression, conformation, nuclear location of VDR or heteridimerization with RXR, VDR-R343H impairs the transactivation activity of VDR on downstream transcription, accounting for HVDRR features with alopecia.
|
29127362 |
2017 |
|
rs121909800
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Alopecia was seen only with the p.R391S mutation.
|
28301319 |
2017 |
|
rs13181
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Univariate statistical analyses revealed that patients with <i>ERCC2</i> rs13181 T/G and/or <i>CYP3A4</i> rs2740574 A/G genotypes are more likely to develop alopecia; patients with <i>ERCC2</i> rs238406 C/C genotype may develop leukopenia, and patients with <i>GSTT1</i>-null genotype could develop lymphocytopenia (III-IV).
|
30914949 |
2019 |
|
rs1380207149
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Point mutation of rat Hr at conserved residues corresponding to natural mutants causing alopecia in mice (G985W and a C-terminal deletion DeltaAK) and in humans (P95S, C422Y, E611G, R640Q, C642G, N988S, D1030N, A1040T, V1074M, and V1154D), as well as alteration of residues in the C-terminal Jumonji C domain implicated in histone demethylation activity (C1025G/E1027G and H1143G) revealed that all Hr mutants retained VDR association, and that transrepressor activity was selectively abrogated in C642G, G985W, N988S, D1030N, V1074M, H1143G, and V1154D.
|
20512927 |
2010 |
|
rs1382048442
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Of these, only the MTHFR 677 C --> T SNP was associated with alopecia, and only in African Americans (p = 0.032).
|
18381794 |
2008 |
|
rs141480813
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a unique patient, a 14 year old male from Lazio region, affected by common variable immunodeficiency associated with autoimmune manifestations (alopecia, onychodystrophy) and heterozygote for the S250C variant located in the SAND domain of the autoimmune regulator gene protein.
|
25068407 |
2014 |