Association analysis of PDE8B gene polymorphisms with the susceptibility to Hyperthyroxinemia in Chinese Han population

Objective To explore the correlations of the polymorphisms of phosphodiesterase 8B (PDE8B) gene with hyperthyrotropinemia in Chinese Han population.Methods A case-control study of genotype 657 366 SNPs was performed by Illumina Human660-Quad BeadChips in 98 hyperthyrotropinemia patients and 1300 controls.And 25 SNPs within PDE8B gene intron 1 were used for association analyses.Results Allele frequencies of 5 SNPS in PDE8B gene intron 1 showed significant differences between the case and control groups (P ＜ 0.05 ).In comparison with the control group,the genotypic distributions of rs7714529 (x2 =6.430,P=0.040),rs12514694 (x2 =7.191,P =0.027) and rs10066802 (x2 =9.213,P =0.010 ) in H-TSH group had significant differences. Haplotype AGTAG (rs7702192/ rs7714529/rs251421/rs12514694/rs 10066802 ) was over-represented in hyperthyrotropinemia cases versus the control group.Conclusion PDE8B gene polymorphisms may be correlated with hyperthyrotropinaemia in Chinese Han population.And it may provide new concepts for the treatment of thyroid dysfunction. Key words: Hyperthyrotropinaemia; Phosphodiesterase 8B; Polymorphism,single nucleotide; Haplotypes