钙调蛋白1基因、雌激素受体1基因多态性与特发性脊柱侧凸双弯的关联性

Is camodulinl gene/estrogen receptor-α gene polymorphisms correlated with double curve pattern of adolescent idiopathic scoliosis？

目的探讨钙调蛋白1基因（CALM1）、雌激素受体1基因（ESR1）多态性和青少年特发性脊柱侧凸（AIS）双弯的关联性。方法67例双弯患者，侧凸Cobb角30～90°。100例对照组。ABI3730测序仪分析CALM1l基因rs12885713（-16C〉T）、r85871和ESR1基因rs2234693（PvuⅡ）、rs9340799（Xba Ⅰ）等位基因多态性分布情况。结果ESR1基因rs2234693（PvuⅡ）等位基因多态性按双弯、胸弯、Cobb角≥40°和对照组比较均有差异（χ^2=6．081、5．554、6．1935；P=0．014、0．0128、0．0184）。CALM1基因rs12885713（-16C〉T）等位基因多态性在双弯组和对照组之间有差异（χ^2=4．478；P=0．034）；rs5871等位基因多态性在胸弯组和对照组之间有差异（χ^2=6．6061；P=0．0102）。结论AIS双弯的发生可能和ESR1基因rs2234693（PvuⅡ）等位基因多态性有一定关联性；对不同SNPs和AIS单弯、双弯或三弯的关系有一定影响。

Objective To investigate the association between calmodulinl （CALM1） gene and estrogen receptor-or （ESR1） polymorphisms and double curve of adolescent idiopathic scoliosis （AIS）. Methods Peripheral blood samples were collected from 67 double curve AIS patients （30° 〈 Cobb angle 〈 90°）, 60 among with the Cobb angle ≥ 40°, and 100 age-matched controls without AIS. There were According to the apical location of major curve, there were 40 thoracic curve patients. PCR and sequencing were performed to analyze the 4 polymorphic loci：rs12885713 （ - 16C 〉 T） and rs5871 locus in CALM1 gene, and rs2234693 （Pvu Ⅱ ） and rs9340799 （Xba Ⅰ ） in ESR1 gene. Results There was statistical difference in the pelymorphic distribution of ESR1 gene rs2234693 site between the double curve, Cobb angle ≥-40° or thoracic curve patients and the controlsrespectively＇ （χ^2 = 6. 081,5. 554, 6. 1935 ;P =0. 014 , 0. 0128,0. 0184）. Between the double curve cases and the controls there was difference in the polymorphic distribution of rs12885713 site in CALM/ gene （χ^2 = 4. 478 ;P = 0. 034 ）. Between the thoracic curve patients and the controls there was difference in the distribution of rs5871 allele polymorphism in CALM1 gene （χ^2 = 6. 6061 ;P =0. 0102）. Conclusion Double curve patterns may be related to ESR1 gene rs2234693 （Pvu Ⅱ ） site polymorphism.