rs874898

This variant is located in the PAX8 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Hypothyroidism, congenital, nongoitrous, 2; not provided

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Research that mentions this SNP (1)

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A comprehensive gene–environment interaction analysis in Ovarian Cancer using genome‐wide significant common variants
AssociationN=25,537Sehee Kim et al.(2019)· International Journal of Cancer

A comprehensive gene-environment interaction study in ovarian cancer examining 28 genome-wide significant variants and 7 environmental risk factors (oral contraceptive use, parity, tubal ligation, breastfeeding, menopausal hormone therapy, BMI, endometriosis) in 9,971 cases and 15,566 controls. The strongest multiplicative interaction identified was between rs13255292 and OCP use (P = 3.48 × 10⁻⁴), with differential protective effects by genotype and duration of use, though no interactions remained significant after multiple testing correction.

Traits studied:Epithelial ovarian cancerFallopian tube cancerOvarian cancerPrimary peritoneal cancer
PubMedDOIMetascience Observatory

About PAX8

This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

View all PAX8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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