rs965513, PTCSC2

N. diseases: 15
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE The most important are associations between rs966423 and mortality (HR = 1.60, p = 0.038), extrathyroidal extension (ETE) (OR = 1.57, p = 0.019); rs965513 and tumour diameter (slope of regression 0.14, p = 0.025), lymph node metastasis (OR = 1.59, p = 0.030) and ETE (OR = 1.29, p = 0.045); rs944289 and distant metastasis (OR = 0.58, p = 0.042); and rs116909374 and lymph node metastasis (OR = 0.61, p = 0.016). 31681970 2019
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.030 GeneticVariation BEFREE The most important are associations between rs966423 and mortality (HR = 1.60, p = 0.038), extrathyroidal extension (ETE) (OR = 1.57, p = 0.019); rs965513 and tumour diameter (slope of regression 0.14, p = 0.025), lymph node metastasis (OR = 1.59, p = 0.030) and ETE (OR = 1.29, p = 0.045); rs944289 and distant metastasis (OR = 0.58, p = 0.042); and rs116909374 and lymph node metastasis (OR = 0.61, p = 0.016). 31681970 2019
Secondary malignant neoplasm of lymph node
0.020 GeneticVariation BEFREE The most important are associations between rs966423 and mortality (HR = 1.60, p = 0.038), extrathyroidal extension (ETE) (OR = 1.57, p = 0.019); rs965513 and tumour diameter (slope of regression 0.14, p = 0.025), lymph node metastasis (OR = 1.59, p = 0.030) and ETE (OR = 1.29, p = 0.045); rs944289 and distant metastasis (OR = 0.58, p = 0.042); and rs116909374 and lymph node metastasis (OR = 0.61, p = 0.016). 31681970 2019
Differentiated Thyroid Gland Carcinoma
0.070 GeneticVariation BEFREE This meta-analysis revealed that common variations of FOXE1 (rs965513, rs944289 and rs1867277) were risk factors associated with increased DTC susceptibility. 29788924 2018
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE The functional variants rs965513 and rs1867277 independently contribute to genetic predisposition to PTC, while a contributing role of the FOXE1 poly-Ala polymorphism could not be confirmed. 27824288 2017
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE There were significant associations of all SNPs with PTC (rs965513 odds ratio [OR] = 1.72, p = 8 × 10-7; rs1867277 OR = 1.59, p = 1 × 10-6; rs1443434 OR = 1.53, p = 1 × 10-5; rs944289 OR = 1.52, p = 4 × 10-5). 28660995 2017
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE We propose that the interaction between the lncRNA, its binding protein MYH9, and the coding gene FOXE1 underlies the predisposition to PTC triggered by rs965513. 28049826 2017
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation BEFREE The A allele of rs965513 polymorphism was shown to be highly associated with risk of thyr</span>oid cancer, with odds ratios of 1.58 (95% CI 1.32-1.90) in all populations, 1.65 (95% CI 1.31-2.07)) in Caucasian populations and 1.49 in Asian populations. 27191655 2016
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE To evaluate the association between rs965513 and PTC in different ethnicities and countries, we conducted a meta-analysis using relatively large-scale samples from 23 studies (N = 163,136; 20,736 cases and 142,400 controls) by searching the PubMed and Google Scholar databases. 27191655 2016
Differentiated Thyroid Gland Carcinoma
0.070 GeneticVariation BEFREE Five germline genetic variants (rs116909374, rs965513, rs944289, rs966423, and rs2439302) have been associated in genome-wide association studies (GWAS) with increased risk of differentiated thyroid cancer (DTC), but their role in mortality of patients has not been established. 26490305 2016
Differentiated Thyroid Gland Carcinoma
0.070 GeneticVariation BEFREE Among Europeans, we found that the two SNPs previously reported at 9q22 were not independently associated to DTC and that rs965513 was the predominant signal; at 14q13, we showed that the haplotype rs944289[C]-rs116909374[C]-rs999460[T] was significantly associated with DTC risk and that the association with rs116909374 differed by smoking status (p-interaction = 0.03). 26991144 2016
Differentiated Thyroid Gland Carcinoma
0.070 GeneticVariation BEFREE Furthermore, DTC risk was positively associated with the number of copies in the minor allele (A) of rs965513 among people who consumed less iodine than the median. 27610545 2016
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
0.060 GeneticVariation BEFREE The A allele of rs965513 polymorphism was shown to be highly associated with risk of thyr</span>oid cancer, with odds ratios of 1.58 (95% CI 1.32-1.90) in all populations, 1.65 (95% CI 1.31-2.07)) in Caucasian populations and 1.49 in Asian populations. 27191655 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.060 GeneticVariation BEFREE The A allele of rs965513 polymorphism was shown to be highly associated with risk of thyr</span>oid cancer, with odds ratios of 1.58 (95% CI 1.32-1.90) in all populations, 1.65 (95% CI 1.31-2.07)) in Caucasian populations and 1.49 in Asian populations. 27191655 2016
Primary differentiated carcinoma of thyroid gland
0.050 GeneticVariation BEFREE Furthermore, DTC risk was positively associated with the number of copies in the minor allele (A) of rs965513 among people who consumed less iodine than the median. 27610545 2016
Primary differentiated carcinoma of thyroid gland
0.050 GeneticVariation BEFREE Among Europeans, we found that the two SNPs previously reported at 9q22 were not independently associated to DTC and that rs965513 was the predominant signal; at 14q13, we showed that the haplotype rs944289[C]-rs116909374[C]-rs999460[T] was significantly associated with DTC risk and that the association with rs116909374 differed by smoking status (p-interaction = 0.03). 26991144 2016
Primary differentiated carcinoma of thyroid gland
0.050 GeneticVariation BEFREE Five germline genetic variants (rs116909374, rs965513, rs944289, rs966423, and rs2439302) have been associated in genome-wide association studies (GWAS) with increased risk of differentiated thyroid cancer (DTC), but their role in mortality of patients has not been established. 26490305 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE The risk allele of rs965513 was associated with larger tumor size (p = 0.025) and extrathyroidal expansion (odd ratio [OR] = 1.29, p = 0.045). 27342578 2016
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation GWASCAT Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations. 25855579 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation BEFREE These results explain the mechanism by which the risk allele of rs965513 predisposes to thyroid cancer. 25918370 2015
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.860 GeneticVariation BEFREE For rs965513, individuals carrying the risk A allele, compared to individuals with the G allele, had 31 % higher risk of thyroid cancer (A vs. G: OR 1.31, 95 % CI 1.17-1.46). 26206751 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE We genotyped rs965513 from PTC patients and measured gene expression levels by real-time RT-PCR in unaffected thyroid tissue and matched tumor. 25303483 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE Four GWAS-identified SNPs of papillary thyroid cancer (PTC), rs965513, rs944289, rs966423 and rs2439302, were genotyped in a case-control study of 838 patients with PTC and 501 patients with benign thyroid tumor (BTT) from the Chinese Han population. 25746573 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE The [A] allele of SNP rs965513 in 9q22 has been consistently shown to be highly associated with increased papillary thyroid cancer (PTC</span>) risk with an odds ratio of ∼1.8 as determined by genome-wide association studies, yet the molecular mechanisms remain poorly understood. 25918370 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE Similarly, the rs965513 on the TTF2 can also elevate the risk of PTC significantly (GA vs GG, OR = 1.67, 95% CI = 1.07-2.59; AA+GA vs AA, OR = 1.37, 95% CI = 1.09-1.82; A vs G, OR = 1.29, 95% CI = 1.05-1.59). 26356687 2015