rs2439302

This is a regulatory region variant variant in the NRG1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

thyroid carcinoma

Gudmundsson J et al. “Discovery of common variants associated with low TSH levels and thyroid cancer risk.” Nature Genetics 44(3):319-22 (2012)
Allele G
OR 1.36
p 2.0e-9
N 27,758
Large GWAS
European
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Research that mentions this SNP (2)

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Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma
MethodsChang Myeon Song et al.(2015)· Environmental and Molecular Mutagenesis

This is a methods chapter describing high-resolution melting (HRM) for SNP detection in papillary thyroid carcinoma research. The paper reviews SNPs associated with PTC development and progression, including variants in FAS (rs2234978), DICER1 (rs3742330), TAS2R3/4 (rs2270009, rs2234001), ATM (rs373759, rs664143, rs4585), TITF1/TITF2 (rs944289, rs965513, rs1443434), MDM2 (rs2279744, rs3730485), BRCA1 (rs1799950, rs799917, rs16941, rs16942, rs1060915, rs1799966), VEGF-A, MMP9 (rs1562), and others associated with tumor characteristics and PTC risk.

Traits studied:Extrathyroidal extensionLymph node metastasisMultifocalityPapillary thyroid carcinomaTNM stageThyroid cancerTumor size
PubMedDOIMetascience Observatory
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Significant SNPs have limited prediction ability for thyroid cancer
AssociationN=1,850Shicheng Guo et al.(2014)· Cancer Medicine

Case-control study genotyping five thyroid cancer-associated SNPs (rs965513 OR=1.53, rs944289 OR=1.51, rs966423 OR=1.32, rs2439302 OR=1.40; rs116909374 not detected) in 845 Han Chinese papillary thyroid carcinoma cases and 1,005 controls. Although significant associations were confirmed, prediction accuracy was limited (AUC 0.54-0.60 across nine machine learning methods) with low sensitivity (0.28-0.48), indicating minimal clinical utility despite large odds ratios.

Traits studied:Papillary thyroid carcinomaThyroid cancer
PubMedDOIMetascience Observatory

About NRG1

The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]

View all NRG1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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