|
rs121908120
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs180177035
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs587781245
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs104894226
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
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 |
|
rs1800520
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata.
|
16774540 |
2006 |
|
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 |
|
rs6152
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We utilised statistical methods appropriate for the categorical nature of the phenotype and familial structure of the cohort, and determined that whilst SNP rs6152 was strongly associated with baldness (P < 0.0001), the GGN triplet repeat was not (P = 0.13).
|
17256155 |
2007 |
|
rs2476601
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata.
|
18028494 |
2008 |
|
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 |
|
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 |
|
rs199473704
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that the G573S and G573C substitutions render the TRPV3 channel spontaneously active under normal physiological conditions, which in turn alters ion homeostasis and membrane potentials of skin keratinocytes, leading to hair loss and dermatitis-like skin diseases.
|
17706768 |
2008 |
|
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 |
|
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 |
|
rs1057517491
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cx26-G45E mice displayed reduced viability, hyperkeratosis, scaling, skin folds, and hair loss.
|
22031297 |
2011 |
|
rs267607477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The sequence analysis revealed a splice acceptor site mutation (c.IVS8-1G>A) in family A and a missense variant (c.1444G>A, p.Asp482Asn) in family B. Mutations identified in the present study extend the body of evidence implicating the KRT74 gene in the pathogenesis of autosomal dominant hair loss disorders.
|
21188418 |
2011 |
|
rs72561723
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cx26-G45E mice displayed reduced viability, hyperkeratosis, scaling, skin folds, and hair loss.
|
22031297 |
2011 |
|
rs2476601
|
|
|
0.040 |
GeneticVariation |
BEFREE |
PTPN22 1858C>T gene polymorphism has been associated with several autoimmune disorders including alopecia areata.
|
23570882 |
2013 |
|
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 |
|
rs3820706
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified an SNP significantly associated with drug-induced grade 2 alopecia (rs3820706 in CACNB4 (calcium channel voltage-dependent subunit beta 4) on 2q23, P = 8.13 × 10(-9), OR = 3.71) and detected several SNPs that showed some suggestive associations by subgroup analyses.
|
24025145 |
2013 |
|
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 |
|
rs201868115
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The severe phenotype of complete baldness was seen in only 1 patient with homozygous c.742C>A.
|
24586639 |
2014 |
|
rs2294020
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data suggest that rs2294020 SNP of FOXP3 gene and rs378299 SNP of ICOSLG gene are associated with AA and with a reduced expression of the FOXP3 and ICOSLG genes in alopecia patients.
|
23196741 |
2014 |
|
rs3138869
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We aimed to compare the rs4045402 and rs3138869 polymorphisms prevalence in a group of 69 selected subjects (AGA+PFS) that used finasteride to treat alopecia and developed persistent side effects, with that in a group of 91 untreated subjects with AGA (AGA), and a group of 76 untreated subjects without AGA (NO-AGA).
|
24855036 |
2014 |
|
rs378299
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data suggest that rs2294020 SNP of FOXP3 gene and rs378299 SNP of ICOSLG gene are associated with AA and with a reduced expression of the FOXP3 and ICOSLG genes in alopecia patients.
|
23196741 |
2014 |