Gene: PTCSC2
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs1443438 in
PTCSC2 gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1443438 in
PTCSC2 gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1443438 in
PTCSC2 gene and
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs12348691 in
PTCSC2 gene and
Alopecia Areata
PMID 25608926 2015 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.
rs1443438 in
PTCSC2 gene and
Autoimmune Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs10818050 in
PTCSC2 gene and
Blood thyroid stimulating hormone analysis
PMID 24852370 2014 Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
rs7873389 in
PTCSC2 gene and
Hair Color
PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
rs7045138 in
PTCSC2 gene and
Hormone measurement
PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
rs925488 in
PTCSC2 gene and
Hyperthyroidism
PMID 30367059 2018 Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.
rs10759927 in
PTCSC2 gene and
Hypothyroidism
PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.
PMID 21981779 2011 Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.
PMID 22493691 2012 Novel associations for hypothyroidism include known autoimmune risk loci.
PMID 30367059 2018 Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 21981779 2011 Four single-nucleotide polymorphisms (SNPs) in linkage disequilibrium at 9q22 near FOXE1 were associated with hypothyroidism at genome-wide significance, the strongest being rs7850258 (odds ratio [OR] 0.74, p = 3.96 × 10(-9)).
rs965513 in
PTCSC2 gene and
Nasopharyngeal carcinoma
PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
rs10739496 in
PTCSC2 gene and
Polysomnography
PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
rs189720575 in
PTCSC2 gene and
Squamous cell carcinoma of lung
PMID 29924316 2018 Genome-wide association study of familial lung cancer.
rs10759944 in
PTCSC2 gene and
Thyroid carcinoma
PMID 19198613 2009 Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations.
PMID 20350937 2010 The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl.
PMID 23894154 2013 Genome-wide association study on differentiated thyroid cancer.
PMID 28195142 2017 A genome-wide association study yields five novel thyroid cancer risk loci.
PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
PMID 22267200 2012 Of those, rs965513 has previously been shown to associate with thyroid cancer.
PMID 25855579 2015 Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations.
rs10759944 in
PTCSC2 gene and
Thyroid stimulating hormone measurement
PMID 25436638 2014 Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network.
PMID 24852370 2014 Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
PMID 25743335 2015 Whole-genome sequence-based analysis of thyroid function.
PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
PMID 28333968 2017 Four loci previously associated with TSH in adults were confirmed in this study population (PDE10A (rs2983511: β = 0.112SD, p = 4.8 ∙ 10-16), FOXE1 (rs7847663: β = 0.223SD, p = 1.5 ∙ 10-20), NR3C2 (rs9968300: β = 0.194SD), p = 2.4 ∙ 10-11), VEGFA (rs2396083: β = 0.088SD, p = 2.2 ∙ 10-10)).
PMID 24852370 2014 The rs2622590_T allele at XKR4 and the rs925489_C allele near FOXE1 were correlated with low TSH levels and were found to be nominally associated to patients with papillary thyroid carcinoma (PTC) (OR = 1.41, P= 0.014 for rs2622590_T, and OR = 1.61, P= 0.030 for rs925489_C).
rs7045138 in
PTCSC2 gene and
Thyroxine measurement
PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.