Molecular genetic factors in the development of papillary thyroid cancer in the Kazakh population

Introduction. In the last decade several population studies on the association of the genes NKX2-1 and FOXE1 with sporadic papillary thyroid cancer were conducted. In the Kazakh population of similar work to date were not conducted. The aim of this study was to study the genetic association of the FOXE1 (rs9655313) and NKX2-1 (rs944289) oncomarkers with papillary thyroid cancer in the Kazakh population. Materials and methods. We conducted a case-control study that allows us to retrospectively evaluate the association of NKX2-1 and FOXE1 genes and papillary thyroid cancer. Results. The frequency distribution of FOXE1 rs965513 polymorphism in the group of papillary thyroid cancer and the control group detected by healthy individuals was significantly different (χ2 = 100.09, D.f. = 2, p = 0.000). In the group of cases, the AA genotype (17.5%) was in three times more often compared with the control group (5.1%). The GG variant had a lower frequency in the group of persons of papillary thyroid cancer (37.9%) against the control group (61.4%), the odds ratio (OR) in the FOXE1 rs965513 group was 2.367. The distribution of the NKX2-1 (rs944289) polymorphism frequencies in the compared groups of values were significantly different (χ2 = 100.09, D.f. = 2, p = 0.000). In the group of cases, the genotype of TT (30.5%) against the control group (20.7%) was 1.5 times more common. The SS variant had a lower frequency of occurrence in the group of persons of papillary thyroid cancer (19.8%) against the control group (28.9%), OR in NKX2-1 (rs944289) group was 1.46. Conclusion. Carrying out screening for carriers of FOXE1 rs965513 and NKX2-1 (rs944289) can become an effective means of early diagnosis with a high frequency of its spread and associations with cases of papillary thyroid cancer in the Kazakh population.