Wang Bao-ping, Han Lin, Tong Jing-jie, Wang Yan, Jia Zhao-tong, Sun Ming-xia, Wang Hai-li
Shandong Provincial Gout Clinical Medical Center, Department of Metabolic Disease, Affiliated Hospital of Qingdao University Medical College, Qingdao, Shandong 266003, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):693-6. doi: 10.3760/cma.j.issn.1003-9406.2013.06.013.
To assess the association of RNASET2 gene polymorphisms and haplotypes with Graves disease (GD) in Han Chinese population from coastal regions of Shandong Province.
A total of 471 GD patients and 472 controls were enrolled. Genotypes of single nucleotide polymorphisms (SNPs) in RNASET2 gene were determined with a Taqman probe on a Fluidigm EPl platform. Haplotypes and their frequencies were analyzed with a SHEsis online software.
There was a significant difference in allele frequencies of rs3777722, rs3777723 and rs9355610 between the GD patients and the controls (P=0.018; P=0.028; P=0.021).Allele frequencies of rs3777722 and rs9355610 were significantly lower in GD than in the controls (P=0.018, P=0.021). Haplotypes A-A-C-A and A-A-T-A were significantly more common in the control group compared with the GD group (P=0.046, OR=0.448, 95%CI:0.200-1.006; P=0.049, OR=0.823, 95%CI:0.678-0.999). The frequency of C-G-C-G haplotype was significantly higher in GD patient group than the control group (P=0.018).
RNASET2 gene polymorphisms and haplotypes are associated with GD in Han population from coastal areas of Shandong Province. rs3777722 and rs9355610 may contribute to the risk for GD.
评估RNASET2基因多态性和单倍型与山东省沿海地区汉族人群格雷夫斯病（GD）的相关性。
共纳入471例GD患者和472例对照。采用Taqman探针在Fluidigm EPl平台上测定RNASET2基因单核苷酸多态性（SNP）的基因型。使用SHEsis在线软件分析单倍型及其频率。
GD患者与对照组之间rs3777722、rs3777723和rs9355610的等位基因频率存在显著差异（P = 0.018；P = 0.028；P = 0.021）。GD患者中rs3777722和rs9355610的等位基因频率显著低于对照组（P = 0.018，P = 0.021）。与GD组相比，对照组中A - A - C - A和A - A - T - A单倍型明显更常见（P = 0.046，OR = 0.448，95%CI：0.200 - 1.006；P = 0.049，OR = 0.823，95%CI：0.678 - 0.999）。GD患者组中C - G - C - G单倍型的频率显著高于对照组（P = 0.018）。
RNASET2基因多态性和单倍型与山东省沿海地区汉族人群的GD相关。rs3777722和rs9355610可能与GD风险有关。
