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.
Highlights
The recent genome-wide association studies (GWAS) including FOXE1 and NKX2-1 genes have represent associations for well differentiated thyroid carcinoma
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
Our study unambiguously confirms the existence of genetic determinants of susceptibility to papillary thyroid carcinoma (PTC) in Kazakh population
Summary
Однонуклеотидные полиморфизмы, ассоциированные со спорадическим папиллярным раком щитовидной железы, в казахской популяции. Последующие исследования репликаций в разных популяциях выявили сильные ассоциации SNP rs965513 и rs944289, локализующихся в генах FOXE1 и NKX2-1 соответственно, с папиллярным раком щитовидной железы. Настоящая работа является первым ассоциативным исследованием данных SNP со спорадическим папиллярным раком щитовидной железы в казахской популяции. Цель исследования ― изучить ассоциацию SNP rs965513 и rs944289 с папиллярным раком щитовидной железы в казахской популяции. В результате нашего исследования выявлена взаимосвязь двух исследованных однонуклеотидных полиморфизмов ― rs965513 и rs944289 ― с предрасположенностью к папиллярному раку щитовидной железы в казахской популяции. Рак щитовидной железы (ЩЖ) является наиболее распространенной формой среди злокачественных опухолей эндокринной системы [1−9]. SNP Association with Risk for Sporadic Papillary Thyroid Carcinoma in Kazakh Population
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