Open AccessSNP Association with Risk for Sporadic Papillary Thyroid Carcinoma in Kazakh Population
Author(s) -
Ainur Serikovna Krykpayeva,
Крыкпаева Айнур Сериковна,
Masahiro Nakashima,
Накашима Масахиро,
М Ж Еспенбетова,
Еспенбетова Майра Жаксимановна,
Zhanna Mussazhanova,
Мусажанова Жанна Бахытгереевна,
Baurzhan Slymovich Azizov,
Азизов Бауыржан Слямович
Publication year - 2018
Publication title -
vestnik rossijskoj akademii medicinskih nauk
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.122
H-Index - 15
eISSN - 2414-3545
pISSN - 0869-6047
DOI - 10.15690/vramn1024
Subject(s) - kazakh , thyroid carcinoma , single nucleotide polymorphism , genotyping , medicine , snp genotyping , oncology , population , genome wide association study , thyroid cancer , snp , genetic association , papillary thyroid cancer , genetics , biology , thyroid , genotype , gene , philosophy , linguistics , environmental health
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.