Association Of UGRP1 Gene Polymorphisms With Graves' Disease In Hazakh People Of Xinjiang In China

Objective Graves'disease(GD) is resulted from an interaction between susceptible genes and environmental triggers. In many research of susceptible gene studies, With whole-genome screening, the loci of 5q31,8q24,6p,8q,10q,7q,14q and 20q etc. was found to be associated with Graves disease . UGRP1 gene is located on chromosome 5q31-q34. This study is to discuss the association between single nucleotide polymorphism (SNP) of UGRP1 gene with Graves'disease in Hazakh people of Xinjiang in China, and to discuss the pathogenesis of Graves'disease in the level of molecule. Methods 215 sporadic patients with GD and 196 healthy control individuals took part in this study. DNA was extracted from peripheral leukocytes, and we designed primer, with PCR enlargement, purification of Shrimp Alkaline Phosphataase , segment extension and samples were aplicated in the gene chip. the PCR products were analysed by the MassARRAY Analyzer. Results⑴5'ultra noncoding region,3'ultra noncoding region,promoter region,exons and introns region of UGRP1 gene identified 33 polymorphism loci.⑵.There were significant difference when comparied the genotype and frequency of (I1.3)C/A,I1-2,+271 T/-,I1.5-rs6859391C/G,rs4705204 alleles between patients and controls by sporadic case-control analysis(P<0.05), which indicate its association with GD in Hazakh people of Xinjiang. No statistic significance was found in the rest of 29 loci, which indicate no relationship between them .⑶. The polymorph on exon 3 is synonymous polymorphism(valine) .⑷. Haplotype composed of -1664A/T,-1301～-1303AAA/-,-718G/A,-623～622AG/T,-112G/A,+222C/A,+271T/-,+3337G/A showed no statistic significance between GD patients and controls in the sporadic case-control analysis. Conclusion These findings suggest that the loci of (I1.3)C/A,I1-2,+271 T/-,I1.5-rs6859391C/G,rs4705204 in the UGRP1 gene may be associated with Graves'disease in Hazakh people of Xinjiang in China. Haplotype composed of -1664 A,-1301～- 1303AAA,-718G,-623～–622T,-112A,+222C,+271T and+3337A have no relation with prevalence of Graves'disease in Hazakh people of Xinjiang. Primarily, it suggests UGRP1 gene can be act as one of suseptable gene in Graves'disease of Hazakh people in Xinjiang.