Objective: To explore the correlations of the polymorphisms of phosphodiesterase 8B (PDE8B) gene with Hyperthyroxinemia in Chinese Han population.
Methods: A case-control study of genotype 657366 SNPs was performed by Illumina Human660-Quad BeadChips in 98 Hyperthyroxinemia 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 (χ(2) = 6.430, P = 0.040), rs12514694 (χ(2) = 7.191, P = 0.027) and rs10066802 (χ(2) = 9.213, P = 0.010) in H-TSH group had significant differences. Haplotype AGTAG (rs7702192/rs7714529/rs251421/rs12514694/rs10066802) was over-represented in hyperthyrotropinemia cases versus the control group.
Conclusion: PDE8B gene polymorphisms may be correlated with Hyperthyroxinemia in Chinese Han population. And it may provide new concepts for the treatment of thyroid dysfunction.