RANK基因多态性与女性青少年特发性脊柱侧凸的相关性

Association between RANK gene polymorphism and the occurrence of female adolescent idiopathic scoliosis

中文关键词:  青少年特发性脊柱侧凸  核因子κB受体活化子  体重指数  Cobb角  女性

英文关键词:Adolescent idiopathic scoliosis  Receptor activator of nuclear factor-κB  Body mass index  Cobb anlge  Female

中文摘要:

  【摘要】 目的：探讨核因子κB受体活化子（receptor activator of nuclear factor-κB，RANK）基因多态性与女性青少年特发性脊柱侧凸（adolescent idiopathic scoliosis，AIS）之间的相关性。方法：2009年2月~2013年7月在我院行支具或手术治疗的450例主弯Cobb角大于20°的女性AIS患儿为观察组（AIS组），年龄14.8±2.9岁（10~18岁）。对照组为例行健康体检的我院周围地区无血缘关系的健康青少年女性400名，年龄15.1±2.3岁（10~17岁）。所有AIS患儿均有身高、体重及体重指数（body mass index，BMI）等资料。AIS组和对照组每例取肘静脉血2ml，提取外周血白细胞基因组DNA。rs1805034和rs35211496作为RANK的目标位点，应用Taqman探针技术行荧光定量PCR，全部反应结束后在荧光定量PCR仪上读取终点荧光，确定各样本的基因分型结果。采用R×C表χ2检验比较AIS组和对照组单核苷酸多态性（single nucleotide polymorphism, SNP）位点基因型及等位基因频率分布的差异。采用单因素方差分析比较AIS组患儿主弯Cobb角及BMI在不同基因型之间的差异。结果：rs1805034和rs35211496的基因型在AIS组和对照组中的分布均符合Hardy-Weinberg遗传平衡定律。rs1805034和rs35211496的基因型及等位基因频率两组间无统计学差异（P>0.05）。单因素方差分析示AIS组内rs1805034和rs35211496的不同基因型患儿间的主弯Cobb角及BMI均无统计学差异（P>0.05）。结论：RANK基因可能不是女性AIS的易感基因，女性AIS组内rs1805034和rs35211496的不同基因型患儿间的主弯Cobb角及BMI均无统计学差异。

英文摘要:

  【Abstract】 Objectives: To study whether the receptor activator of nuclear factor-κB (RANK) gene polymorphism is associated with the occurrence of adolescent idiopathic scoliosis(AIS) girls. Methods: 450 AIS girls and 400 age-matched healthy girls from Februry 2009 to July 2013 were recruited in this study, the average age was 14.8±2.9 years(range, 10-18 years) for AIS girls and 15.1±2.3 years(range, 10-17 years) for healthy controls, respectively. Only AIS girls with Cobb angles larger than 20° were included in this study. The anthropometric parameters including height, weight and body mass index(BMI) were available for all AIS girls. 2ml blood were taken from the antecubital vein in both groups and the DNA of peripheral leukocyte was extracted for each individual. The rs1805034 and rs35211496 were selected as target single nucleotide polymorphism(SNP) to cover all of the polymorphisms on RANK. Genotyping was performed with fluorescent quantitative polymerase chain reaction(PCR). Comparison of genotyping results between 2 groups were performed by using the χ2 while one-way ANOVA tests to compare the Cobb angle and BMI among AIS girls with different genotypes. Results: The rs1805034 and rs35211496 were successfully genotyped, of which no significant difference of genotype frequencies from the Hardy-Weinberg equilibrium test was noted for the AIS patients or the normal controls(P>0.05). There was no significant difference of genotype and allele frequencies of rs1805034 and rs35211496 between the AIS girls and normal controls(P>0.05). By one-way ANOVA test, the Cobb angle and BMI showed no significant difference among different genotypes in rs1805034 and rs35211496(P>0.05). Conclusions: The RANK gene may be not the susceptibility gene of AIS girls. There is no significant difference among different genotypes in terms of Cobb angle and BMI in rs1805034 and rs35211496.