瘦素受体基因rs2767485的多态性与青少年特发性脊柱侧凸的发生有关。
Polymorphism of rs2767485 in Leptin Receptor Gene is Associated With the Occurrence of Adolescent Idiopathic Scoliosis.
作者信息
Liu Zhen, Wang Fei, Xu Lei-Lei, Sha Shi-Fu, Zhang Wen, Qiao Jun, Bao Hong-da, Qiu Yong, Jiang Qing, Zhu Ze-Zhang
机构信息
*Department of Spine Surgery, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, China; and†Department of Orthopedic Surgery, Nanjing Children's Hospital affiliated to Nanjing Medical University, Nanjing, China.
出版信息
Spine (Phila Pa 1976). 2015 Oct 15;40(20):1593-8. doi: 10.1097/BRS.0000000000001095.
STUDY DESIGN
A genetic association study of leptin receptor (LEPR) gene with adolescent idiopathic scoliosis (AIS) in the Chinese Han population.
OBJECTIVE
To determine whether LEPR gene polymorphisms are associated with the predisposition and/or disease severity of AIS.
SUMMARY OF BACKGROUND DATA
Patients with AIS were reported to have lower body mass index (BMI), abnormal leptin bioavailability, and systemic lower bone mass, which implied that leptin/LEPR signaling pathway may be implicated in the etiology of AIS. Previous association study of the polymorphisms in leptin gene did not show significant differences between AIS cases and controls. However, no study has been done to investigate the relationship between genetic polymorphisms of the LEPR gene and susceptibility to AIS.
METHODS
570 patients with AIS aged 10 to 18 years were enrolled, and 570 age-matched healthy subjects were recruited as controls. 6 single nucleotide polymorphisms (SNPs) (rs1137101, rs1137100, rs4655555, rs2767485, rs1751492, and rs8179183) of LEPR gene were selected. The polymorphisms were genotyped using the polymerase chain reaction (PCR)-based Invader assay. Case-control study was performed to define the contribution of the 6 SNPs to predisposition of AIS. 1-way analysis of variance (ANOVA) test was used to compare the mean Cobb angles and BMI among patients with different genotypes in case-only analyses. Statistical significance was set at P < 0.05.
RESULTS
Both the genotype and allele frequencies of SNP rs2767485 were significantly different between the patient with AIS and the control groups. No significant difference of allele frequency was noted in other 5 SNPs between the patients with AIS and the normal controls. Both the mean maximum Cobb angles and BMI of different genotype AIS groups were similar to each other for all the 6 SNPs (P > 0.05).
CONCLUSION
Polymorphism of rs2767485 in LEPR gene is associated with the occurrence of AIS, suggesting LEPR is a predisposition gene.
研究设计
一项关于中国汉族人群中瘦素受体（LEPR）基因与青少年特发性脊柱侧凸（AIS）的基因关联研究。
目的
确定LEPR基因多态性是否与AIS的易感性和/或疾病严重程度相关。
背景数据总结
据报道，AIS患者的体重指数（BMI）较低、瘦素生物利用度异常以及全身骨量较低，这表明瘦素/LEPR信号通路可能与AIS的病因有关。先前关于瘦素基因多态性的关联研究未显示AIS病例与对照组之间存在显著差异。然而，尚未有研究调查LEPR基因的基因多态性与AIS易感性之间的关系。
方法
纳入570例年龄在10至18岁的AIS患者，并招募570例年龄匹配的健康受试者作为对照。选择LEPR基因的6个单核苷酸多态性（SNP）（rs1137101、rs1137100、rs4655555、rs2767485、rs1751492和rs8179183）。使用基于聚合酶链反应（PCR）的Invader检测法对多态性进行基因分型。进行病例对照研究以确定这6个SNP对AIS易感性 的影响。在仅病例分析中，使用单因素方差分析（ANOVA）测试比较不同基因型患者的平均Cobb角和BMI。统计学显著性设定为P < 0.05。
结果
AIS患者与对照组之间，SNP rs2767485的基因型和等位基因频率均存在显著差异。在AIS患者与正常对照组之间，其他5个SNP的等位基因频率未观察到显著差异。对于所有6个SNP，不同基因型AIS组的平均最大Cobb角和BMI彼此相似（P > 0.05）。
结论
LEPR基因中rs2767485的多态性与AIS的发生相关，提示LEPR是一个易感基因。
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