[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 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.


CONCLUSIONS
PDE8B gene polymorphisms may be correlated with Hyperthyroxinemia in Chinese Han population. And it may provide new concepts for the treatment of thyroid dysfunction.
State Key Lab of Medical Genomics, Ruijin Hospital, Medical College of Shanghai JiaoTong University, Shanghai 200025, China.
Ming
M
Zhan
Shuang-xia
SX
Zhao
Zhao-hui
ZH
Gu
Cui-cui
CC
Guo
Zhi-yi
ZY
Song
Huai-dong
HD
Song
D015105:3',5'-Cyclic-AMP Phosphodiesterases / Q000235:genetics*; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D006981:Hyperthyroxinemia / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
D015105:3',5'-Cyclic-AMP Phosphodiesterases; C468781:PDE8B protein, human