| Recently,variants of C1QTNF6 at 22q12.3,RAC2 at 22q13.1 and an intergenic region at 14q32.2 were found association with risk to Graves'disease?GD?.Our purpose of current study was to validate these associations with Graves'disease?GD?in samples of Han Chinese population from Weifang City of Shandong province in China by genotyping three tag SNPs located in 14q32.2,22q12.3 and 22q13.1.We investigated associations of three SNPs with GD,including rs1456988within the intergenic region at 14q32.2,rs229527 within C1QTNF6 at22q12.3 and rs2284038 within RAC2 at 22q13.1.These three SNPs were genotyped in a case-control collection of 2,382 GD patients and 3,092unrelated controls using TaqMan assays on ABI7900 platform.The frequencies of alleles and genotypes were compared between cases and controls.We found associations between GD and rs229527 located in22q12.3(odds ratio?OR?=1.23,PAllelic=4.60×10-6)as well as association of rs2284038 located in 22q13.1(OR=1.10,PAllelic=3.00×10-2).No association was observed between GD and rs1456988 located in 14q32.2(OR=1.08,PAllelic=7.01×10-2).Analysis of model of inheritance suggested that both the dominant and recessive models showed significant associations for rs229527 with GD(PDominant=9.90×10-5,PRecessive=3.90×10-4),and the dominant model should be preferred.For rs2284038,the recessive model should be preferred(PRecessive=4.76×10-2),whereas analysis of dominant model showed no association(PDominant=0.10).No association was observed for rs1456988 under dominant or recessive model?P>0.05?.Our findings showed that chromosome 22q12.3 and22q13.1 variants were associated with Graves'disease in Han Chinese population;however,14q32.2 showed no association.These results suggested susceptibility genes within 22q12.3 and 22q13.1 might be involved in susceptibility for GD in Han Chinese. |
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