耐酒石酸酸性磷酸酶5基因多态性与青少年特发性脊柱侧凸患者相关性研究

Association between tartrate-resistant acid phosphatase 5 gene polymorphism and adolescent idiopathic scoliosis

目的探讨耐酒石酸酸性磷酸酶5（ACP5）基因多态性与青少年特发性脊柱侧凸（AIS）易感性和严重程度的相关性。方法选择2006年1月至2008年12月372例AIS患者（AIS组）和2005年3月至2006年8月239名健康青少年（正常对照组），所有AIS患者Cobb角均≥10°。结合汉族人单倍体型资料，选取rs2229531、rs2071484两个单核苷酸多态性位点，采用PCR-限制性片段长度多态性的方法对这两个位点进行基因分型。比较不同基因型在AIS组与正常对照组之间的分布差异，并分析基因多态性与Cobb角的相关性。结果AIS组与正常对照组的rs2229531位点均未见多态性。AIS组ACP5基因rs2071484位点的基因型及等位基因分布与正常对照组比较差异无统计学意义（x^2=3．336和1．438，P〉0．05）。rs2071484多态性位点AA、AG、GG基因型所对应的平均最大Cobb角分别为38°±19°、34°±14°、38°±21°，三者相比差异无统计学意义（P=0．157）。结论ACP5基因多态性可能与AIS的发生发展没有明显关系。

Objective To investigate whether the titrate-resistant acid phosphatase 5 （ACP5） gene polymorphisms were associated with the occurrence or curve severity of adolescent idiopathic scoliosis （AIS）. Methods There were 372 AIS patients from January 2006 to December 2008 and 239 normal controls from March 2005 to August 2006 were recruited. The Cobb angles were ≥ 10° in all AIS patients. Using the haplotype data of Han population from the Hapmap Project, two tag SNPs （rs2229531 ,rs2071484） were defined for ACP5 gene. PCR-restriction fragment length polymorphism was used for the genotyping. Results No polymorphism in rs2229531 was found in this study. The genotype and allele frequency distribution in rs2071484 were similar between AIS patients and normal controls （ X2 = 3. 336 and 1. 438, P 〉0. 05）. The mean maximum Cobb angles of different genotypes of rs2071484 in ACP5 gene were 38°± 19°in AA,34° ± 14° in AG and 38° ±21°in GG, which were similar with each other among AIS patients who reached skeletal maturity or received surgery treatment （P = 0. 157）. Conclusion The ACP5 gene is neither associated with the occurrence nor the curve severity of AIS.