Abstract:

Objective
To explore the associations between ITGA3,TP53INP2,and AXIN2 gene polymorphisms and papillary thyroid carcinoma (PTC),and to provide basis for the prevention and treatment of PTC. Methods 56　cases of  blood samples from PTC patients (case group) and 50 cases of normal blood samples from  normal thyroid persons(control group) were collected.The genotypes of 14 SNPs  of ITGA3,TP53INP2,and AXIN2 genes were detected by matrix-assisted laser desorption ionization time of flight mass spectrometry.The differences of   genotypic and allelic frequencies of different sites between case and control groups were detected;the relationship between haplotype  consisted of two or more sites and PTC was analyzed by UNPHASED3.1.4 software.Results The  Hardy-Weinberg equilibrium results showed that the genotypic frequency distribution of 14 sites in two groups were in accordance with Hardy-Weinberg equilibrium (P>0.05).The distribution of allelic frequencies of rs11655966,rs3923086, and rs7591 sites in AXIN2 gene were statistically different between two groups (χ2=6.029,df=1,P=0.014;χ2=4.518,df=1,P=0.034;χ2=4.674,df=1,P=0.031). The distribution of allelic frequency of rs910870 site in TP53INP2 gene was statistically different between two groups (χ2=4.583,df=1,P=0.032). The distribution of allelic and genotypic frequency of five tag SNPs in ITGA3 gene were not statistically different between two groups(P>0.05).The combined analysis of multiple sites  results showed that there were statistically differences in the distribution of rs7210356-rs7591-rs4074947-rs11655966-rs3923086-rs4791169-rs2240308 haplo-system between two groups (P<0.05). Conclusion The rs11655966,rs3923086,and rs7591 sites in AXIN2 gene and rs910870 site in TP53INP2 gene might be associated with  PTC.The haplotype consisted of multiple sites in AXIN2 gene might be associated with  PTC.ITGA3 might not be associated with  PTC.
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Key words: papillary thyroid carcinoma, single nucleotide polymorphism, ITGA3, TP53INP2, AXIN2