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rs1085308054
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs231775
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We evaluated the allele distribution of the following loci: CTLA-4 exon 1 A49G dimorphism, which resulted in an amino acidic exchange (Thr/Ala) in the leader peptide, CTLA-4 3' microsatellite, HLA DRB1 and DQB1 in 126 patients with HT and in 301 control subjects from an Italian population (Lazio region).
|
11288988 |
2001 |
|
rs17879469
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We evaluated the allele distribution of the following loci: CTLA-4 exon 1 A49G dimorphism, which resulted in an amino acidic exchange (Thr/Ala) in the leader peptide, CTLA-4 3' microsatellite, HLA DRB1 and DQB1 in 126 patients with HT and in 301 control subjects from an Italian population (Lazio region).
|
11288988 |
2001 |
|
rs121434257
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G228W closely cosegregated with hypothyroid autoimmune thyroiditis in our family, whereas a low penetrance of the full autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype was observed.
|
11600535 |
2001 |
|
rs231775
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Gene polymorphisms involving CTLA-4 promoter (-318 C/T), exon 1 (49 A/G), and exon 4 (microsatellite (AT)n) have been linked to Hashimoto's thyroiditis (HT) and other autoimmune diseases.
|
12225635 |
2002 |
|
rs2476601
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo.
|
16464986 |
2006 |
|
rs231775
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Group-level data suggested significant associations with GD and HT for both A49G [odds ratios 1.49 (P = 6 x 10(-14)) and 1.29 (P = 0.001) per G allele, respectively] and CT60 [1.45 (P = 2 x 10(-9)) and 1.64 (P = 0.003) per G allele, respectively].
|
17504905 |
2007 |
|
rs1544410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In single-RFLP association analyses, only rs1544410 polymorphism was associated with HT phenotype (allelic P(c) = 0.0078) and appeared to function under the recessive model, with decreased risk of HT among the BB homozygotes [OR = 0.39 (0.21-0.7), P(c) = 0.0052] when compared to the reference b(+)-genotypes.
|
18279374 |
2008 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis.
|
18426810 |
2008 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Screening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis.
|
18426810 |
2008 |
|
rs180223
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the genomic region (11.5cM) containing the Tg gene by genotyping seven microsatellite markers and four SNPs located respectively at exon 10 (Ser715Ala), exon 12 (Met1009Val), exon 21 (Ala1483Ala) and exon 33 (Arg1980Trp) in 15 Tunisian multiplex families affected with AITD including Graves' disease (GD) and Hashimoto's thyroiditis (HT) (members: 87; patients: 27 GD and 16 HT).
|
18656705 |
2008 |
|
rs2076740
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the genomic region (11.5cM) containing the Tg gene by genotyping seven microsatellite markers and four SNPs located respectively at exon 10 (Ser715Ala), exon 12 (Met1009Val), exon 21 (Ala1483Ala) and exon 33 (Arg1980Trp) in 15 Tunisian multiplex families affected with AITD including Graves' disease (GD) and Hashimoto's thyroiditis (HT) (members: 87; patients: 27 GD and 16 HT).
|
18656705 |
2008 |
|
rs853326
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the genomic region (11.5cM) containing the Tg gene by genotyping seven microsatellite markers and four SNPs located respectively at exon 10 (Ser715Ala), exon 12 (Met1009Val), exon 21 (Ala1483Ala) and exon 33 (Arg1980Trp) in 15 Tunisian multiplex families affected with AITD including Graves' disease (GD) and Hashimoto's thyroiditis (HT) (members: 87; patients: 27 GD and 16 HT).
|
18656705 |
2008 |
|
rs231775
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The frequency of A/G (A49G) genotype was high and statistically significant in patients with Hashimoto's thyroiditis in comparison with the control group.
|
18752454 |
2008 |
|
rs2268458
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results demonstrated that the intronic TSHR-SNP-rs2268458 was associated with GD, but not with HT, thus indicating that the TSHR gene has the potential to increase susceptibility to GD.
|
18925838 |
2008 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Clinical and pathological features and the BRAF(V600E) mutation in patients with papillary thyroid carcinoma with and without concurrent Hashimoto thyroiditis.
|
19014278 |
2009 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Clinical and pathological features and the BRAF(V600E) mutation in patients with papillary thyroid carcinoma with and without concurrent Hashimoto thyroiditis.
|
19014278 |
2009 |
|
rs2476601
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Stratifying patients affected with AITDs according to their phenotype (Graves' disease and Hashimoto's thyroiditis) and RA patients according to the presence of rheumatoid factor (RF) and antibodies against cyclic citrullinated peptides (ACPA) did not show any significant association with PTPN22 R620W allele (p>0.05).
|
19343596 |
2009 |
|
rs1143627
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To evaluate the hypothesis that the functional -31C/T polymorphism (rs1143627) in the gene encoding IL-1beta is associated with the intractability and the severity of autoimmune thyroid diseases, we genotyped this polymorphism in 64 patients with intractable Graves' disease (GD), 28 GD patients in remission, 49 patients with Hashimoto's disease (HD) who developed hypothyroidism (severe HD), 28 untreated euthyroid HD patients (mild HD) and 59 healthy volunteers.
|
19793334 |
2009 |
|
rs1990760
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the present study was to investigate the role of the rs1990760 polymorphism within the IFIH1 gene in German patients with GD (n = 258), Hashimoto's thyroiditis (HT, n = 106), Addison's disease (AD, n = 195) and healthy controls (HC, n = 227) as well as in 55 GD families (165 individuals, German) and 100 HT families (300 individuals, Italian).
|
19961590 |
2009 |
|
rs2476601
|
|
|
0.850 |
GeneticVariation |
BEFREE |
To evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabetes patients with or without autoimmune thyroiditis.
|
20438787 |
2010 |
|
rs1133076
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied six polymorphisms distributed throughout all the thyroglobulin gene: four microsatellites (Tgms1, Tgms2, TGrI29 and TGrI30), one insertion/deletion (Indel) polymorphism (IndelTG-IVS18) and one exonic single nucleotide polymorphism (SNP) (c.7589G>A) in 122 patients with autoimmune thyroiditis compared with 100 non-related normal subjects.
|
20960158 |
2010 |
|
rs111033243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.F354S variation was identified both among patients (1~HT and 3 GD) and healthy subjects (n=5).
|
21045265 |
2010 |
|
rs3212227
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the discovery cohort, rs41292470 and rs3212227 genotypes did not differ significantly between Hashimoto's disease and Graves' disease.
|
21198744 |
2011 |
|
rs6887695
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In Australian men (but not women), rs6887695 genotype differed between Hashimoto's disease and Graves' disease, with a minor allele frequency (MAF) of 14% and 41%, respectively (P=0·034).
|
21198744 |
2011 |