SNP Association with Risk for Sporadic Papillary Thyroid Carcinoma in Kazakh Population

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Abstract

Background: The recent genome-wide association studies (GWAS) including FOXE1 and NKX2-1 genes have represent associations for well differentiated thyroid carcinoma. Replication studies in geographically distinct populations identified strong associations of rs965513 (9q22.33) and rs944289 (14q13.3) SNPs with papillary thyroid cancer. This work is the first to characterise the associations of SNPs in a population-based Kazakh cohort.

Aims: To study association of SNPs with risk for sporadic papillary thyroid carcinoma (PTC) in Kazakh population.

Materials and methods: A total of 298 patients with histologically confirmed PTC and 742 controls of Kazakh origin were recruited. All participants donated a peripheral venous blood sample which was used to isolate genomic DNA. Genotyping was performed using TaqMan Genotyping on a Light Cycler 480 (Roche, Indianapolis, IN).

Results: Significant associations: rs965513 (p=3.24 E-16; OR=2.05, 95% CI 1.82−2.11) and rs944289 (p=1.38 E-06; OR=1.39, 95% CI 1.21−1.52) were found in the multiplicative model of inheritance adjusted for age and sex.

Conclusions: Our study unambiguously confirms the existence of genetic determinants of susceptibility to PTC in Kazakh population.

About the authors

Ainur S. Krykpayeva

Semey State Medical University

Email: k.ainur.85@mail.ru
ORCID iD: 0000-0001-7701-9832

PhD-student

Kazakhstan

Masahiro Nakashima

Nagasaki University

Email: moemoe@nagasaki-u.ac.jp
ORCID iD: 0000-0002-9036-8735

MD, PhD, Professor

Japan

Maira Zh. Espenbetova

Semey State Medical University

Email: espenbetova@inbox.ru
ORCID iD: 0000-0003-2318-4765

MD, PhD, Professor

Kazakhstan

Zhanna Mussazhanova

Nagasaki University

Author for correspondence.
Email: ghannakz@mail.ru
ORCID iD: 0000-0002-7315-7725

MD, PhD, AssistantProfessor.

852-8523, Sakamoto 1-12-4, Nagasaky

Japan

Baurzhan S. Azizov

Semey State Medical University

Email: aiaziz@mail.ru
ORCID iD: 0000-0003-4775-8970

MD

Kazakhstan

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