Investigation of the Relationship Between Genome Wide Association Studies-derived Polymorphisms and Differentiated Thyroid Cancer Risk in a Turkish Population

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Selma Demir
Hakan Gürkan
Mehmet Çelik
Damla Eker
Yavuz Atakan Sezer
Sibel Güldiken
Necdet Süt
Hilmi Tozkır
Ebru Göncü
Buket Yılmaz Bülbül
Semra Aytürk Salt
Yasemin Özen
Engin Atlı
Tammam Sipahi
Orkide Palabıyık


Background: Thyroid cancer is the most common malignancy of endocrine system. Genome Wide Association Studies (GWAS) revealed a number of common variants associated with thyroid cancer risk. In this study, we aimed to investigate the association of these known variants with thyroid cancer risk in a Turkish population living in Trakya region. 

Methods: The study included 97 cases of differentiated thyroid cancer and 379 healthy controls. Real-Time Polymerase Chain Reaction (RT-PCR) method was used for the genotyping of rs965513, rs944289, rs966423 rs2439302 polymorphisms.

Results: There was no statistically significant difference between patients and controls in terms of SNP genotype and allele frequencies. The distribution of cumulative genetic risk scores between patients and controls was also not significantly different. In the multivariate logistic regression analysis, it was observed that the rs2439302 polymorphism GG genotype had a borderline significant relationship with the risk of thyroid cancer  [(p = 0.067, 95%CI: 2.947 (0.928-9.357 )].

Conclusion: We suggest that the confirmation of the association of common variants with thyroid cancer in different populations will contribute to make a consensus on global risk alleles. The marginal significance of the association of rs2439302 with thyroid carcinoma risk shown in our study supports the need for functional studies on the role of this polymorphism in thyroid carcinoma.

Keywords: Thyroid carcinoma, GWAS, genetic risk

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