摘要目的 利用Meta分析方法对COL12A1?rs970547位点基因多态性与前交叉韧带(anterior cruciate ligament,ACL)损伤相关性进行系统评价.方法 对2018年3月之前发表的关于COL12A1?rs970547位点基因与ACL损伤的文献进行检索、收集和整理,用Meta分析的方法分析等位基因G vs A、显性模型(AG+GG)vs AA、隐性模型GG vs(AA+AG)、共显性模型AA vs GG和AA vs GA在ACL损伤组与对照组中是否有差异,以期深入揭示COL12A1?rs970547位点基因多态性与ACL损伤的联系.结果 本研究在5个团队的5份独立样本(包括患者686例和健康对照890例)的Meta分析发现,总体人群中,COL12A1?rs970547位点基因多态性与ACL损伤在等位基因G vs A[OR=1.29,95% CI (1.05,1.60),P=0. 02]、显性模型(AG+GG)vs AA[OR=1.49,95% CI(1.17,1.89),P=0. 001]、共显性模型AA vs GA[OR=1.57,95% CI(1.23,2.01),P=0. 0003]方面差异有统计学意义,可认为COL12A1?rs970547位点基因多态性与ACL损伤存在一定的关联性.单独对欧洲?高加索人种、亚洲人种进行亚组Meta分析,结果显示欧洲?高加索人种中,等位基因G vs A、各基因模型在ACL损伤组与对照组中的差别无统计学意义(P>0. 05),尚不能认为欧洲?高加索人种中COL12A1?rs970547位点基因多态性与ACL损伤存在关联性.在亚洲人种中等位基因G vs A[OR=1.76,95% CI(1.20,2.57),P=0.004]、显性模型(AG+GG)vs AA[OR=2.93,95% CI(1.58,5.44),P=0. 0007]、共显性模型AA vs GG[OR=3.92, 95% CI(1.46,10.47),P=0.000 7]和AA vs GA[OR=2.83,95% CI(1.50,5.34),P=0. 001]在ACL损伤组与对照组中的差异有统计学意义,可认为亚洲人种中COL12A1?rs970547位点基因多态性与ACL损伤存在关联性.结论 本次Meta分析显示至少在亚洲人种中,COL12A1?rs970547位点基因多态性与ACL损伤存在关联性,利用这种基因有助于发现ACL损伤新的预防及治疗策略.

abstractsObjective To identify the relationship between COL12A1? rs970547 and anterior cruciate ligament(ACL)tear. Methods We investigated the association between COL12A1?rs970547 and ACL tear using Meta analytic techniques,combining all published data up to March 2018. Results 5 independent samples from 5 research teams contributed data on COL12A1?rs970547 and ACL tear. The total number of cases and controls for this marker was 686 and 890. When all groups were pooled,a statistically significant summary OR was found between ACL tear and COL12A1?rs970547 allele G vs A[OR=1.29, 95% CI(1.05,1.60),P=0.02],genotype(AG+GG)vs AA[OR=1.49,95% CI(1.17,1.89),P=0.001], AA vs GA[OR=1.57,95% CI (1.23,2.01),P=0. 0003]. When analyses were restricted to more race homogeneous populations,significant association of allele G vs A[OR=1.76,95% CI (1.20,2.57),P=0.004],genotype(AG+GG)vs AA[OR=2.93,95% CI (1.58,5.44),P=0.0007],genotype AA vs GG [OR=3.92,95% CI(1.46,10.47),P=0.000 7]and AA vs GA[OR=2.83,95% CI(1.50,5.34),P=0.001] with increased ACL tear risk was found in Asian population. Conclusion Our results suggested that COL12A1?rs970547 may have effect on the susceptibility to ACL tear,at least in Asian population.