Association of calmodulin1 gene polymorphisms with susceptibility to adolescent idiopathic scoliosis

Objective: To investigate whether: (i) rs12885713 (?16C > T) and rs5871 polymorphisms in the Calmodulin1 (CALM1) gene are predisposing factors for adolescent idiopathic scoliosis (AIS); and (ii) different single nucleotide polymorphisms (SNP) correlate with different subtypes of AIS. Methods: A total of 100 AIS patients with Cobb angle above 30° were recruited for this study together with 100 healthy controls. Curve pattern, Cobb angle, and Risser sign were recorded. Two polymorphic loci, rs12885713 (?16C > T) and rs5871 loci, of the CALM1 gene were analyzed. All patients were grouped according to the Peking Union Medical College (PUMC) classification, the apical location of the major curve, and the Cobb angle. Results: There was a statistically significant difference in the distribution of rs12885713 site polymorphism (P = 0.034) between PUMC type II (double curve) patients and controls, in the distribution of rs12885713 site polymorphism (P = 0.009) between lumbar curve cases and controls and in the distribution of rs5871 site polymorphism (P = 0.035) between thoracic curve patients and controls. Conclusion: Different subtypes of AIS might be related to different SNP. The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be related to CALM1 rs12885713 site polymorphism, while rs5871 site polymorphism might be a risk indicator for thoracic curve cases.     

钙调蛋白1基因多态性和青少年特发性脊柱侧凸不同亚型的关系

目的 探讨钙调蛋白1基因rs12885713(-16C>T)、rs5871等位基因多态性和特发性脊柱侧凸及其不同临床亚型的关联性.方法 2005年10月至2007年4月,北京协和医院接受手术治疗的青少年特发性脊柱侧凸患者100例(Cobb角>30.),对照组100例.QIAamp DNA微型血液试剂盒外周静脉血提取DNA.设计钙调蛋白1基因~12885713、rs587l所在序列引物,完成PCR扩增反应;ABl3730测序仪分析SNP位点基因型.结果 所有患者按照PUMC分型、主弯顶点位置以及Cobb角分组.结果 显示:(1)rs12885713位点等位基因多态性分布情况在PUMC Ⅱ型患者和对照组之间差异有统计学意义(P=O.034);(2)rsl2885713等位基因多态件分布情况在腰弯患者和对照组之间差异有统计学意义(P=-0.009);(3)rs5871位点等位基因多念性分布情况在胸弯患者和对照组之间差异有统计学意义(P=0.035).结论 钙调蛋白1基冈不同SNP位点等位基因多态性可能和特发性脊柱侧凸小同临床亚型相关联:(1)rsl2885713位点等位基因多态性可能和PUMCⅡ型特发性脊柱侧凸相关联;(2)腰弯侧凸可能和rsl2885713化点等位基凶多念性关联;(3)胸弯侧凸可能和rs5871位点等位基凶多态性关联.     

Matrilin-1基因多态性对青少年特发性脊柱侧凸进展的预测价值

目的 探讨Matrilin-1基因多态性在预测青少年特发性脊柱侧凸(adolescent idiopathicscoliosis,AIS)是含进展为严重脊柱侧凸方面的价值.方法 2006年6月至2007年3月在我院就诊的AIS患者267例,男40例,女227例.104例手术治疗,163例定期门诊随访,记录患者末次随访或术前最大Cobb角、初潮年龄、侧凸弯型、身高、臂长及体重.选取Matrilin-1基因启动子区域位点rs1149048进行聚合酶链式反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length poly-morphism,PCR-RFLP)基因分型.进展型侧凸(脊柱侧凸进展成为严重脊柱侧凸)定义为骨骼发育未成熟时Cobb角>40°或骨骼发育成熟时Cobb角>50°.AIS患者被分为进展型与非进展型两组,比较两组间的临床特征及基因型分布的差异.分析侧凸进展的危险因素.结果 267例AIS患者中162例(60.7%)为非进展型,105例(39.3%)为进展型.进展型组月经初潮年龄较晚(>13岁),且三弯及胸腰双主弯所占比例高,基因型GG的个体在进展型组比例高(55.2%).初潮年龄晚、三弯、胸腰双主弯及基因型CG为侧凸进展的危险因素.结论 Matrilin-1基因多态性可被用来预测AIS进展,结合其他相关预测因素可提高预测的准确性.     

褪黑素受体1A基因多态性与青少年特发性脊柱侧凸相关性研究

目的研究褪黑素受体1A基因（MTNR1A）多态性与青少年特发性脊柱侧凸（AIS）发生发展的关系。方法共纳入226例AIS患者及277例正常对照者。记录AIS患者组最大Cobb角。采用PCR-RFLP的方法对MTNR1A基因启动子区域多态性位点rs2119882进行基因分型。结果AIS患者组MTNR1A基因多态性位点rs2119882的基因型及等位基因分布与正常对照组比较没有明显差异。在AIS组内,多态性位点rs2119882不同基因型所对应的最大Cobb角没有明显差异。结论MTNR1A基因rs2119882位点多态性与AIS的发生发展都没有关系。     

金属蛋白酶组织抑制剂-2基因多态性与青少年特发性胸椎侧凸的相关研究

目的 探讨金属蛋白酶组织抑制剂-2(TIMP-2)启动子区基因多态性与青少年特发性胸椎侧凸疾病易感性和严重程度的相关性.方法 研究对象为2007年1月至2009年3月诊治的354例女性胸弯型青少年特发性脊柱侧凸(AIS)患者(AIS组)和2005年3月至2006年6月210名健康体检女性青少年(对照组).选取TIMP-2基因启动子区418G.C(rs8179090)单核苷酸多态性位点,采用聚合酶链反应一限制性片段长度多态性(PCR-RFLP)的方法对这该位点进行基因分型.比较不同基因型在AIS组与对照组之间的分布差异,并分析基因多态性与临床表型的相关性.结果 rs8179090多态性位点的等位基因及基因型分布在两组中差异无统计学意义(P>0.05).AIS组中,体质量指数(BMI)<17 kg.m~2或主弯cobb角≥40°的患者中c等位基因的比例分别显著高于BMI≥17 kg.m~2或主弯cobb角<40°者(P<0.05).已经达到骨骼成熟且自然史未受干扰的患者中,GC型和CC型患者的主弯Cobb角平均值显著大于GG型患者(卢<0.05).结论 TIMP-2基因启动子区-418G.C(rs8179090)多态性位点与女性胸弯型AIS患者青春期异常生长模式和侧凸进展有关,TIMP-2基因是胸弯型AIS的疾病修饰基因.     

青少年特发性脊柱侧凸生长激素基因多态性研究

目的 研究生长激素(GH)基因多态性与青少年特发性脊柱侧凸(AIS)发生发展的关系.方法 本研究包括265例AIS患者及193名正常对照.在AIS患者组,记录其最大Cobb角.采用PCR-RFLP的方法 对GH基因启动子区域多态性位点rs2854184进行基因分型.结果 在AIS患者组,GH基因rs2854184多态性位点的3个基因型AA、AT、TT分别占38.3%,50.3%,11.4%,正常对照组分别占39.6%,50.2%,10.10k,2组比较差异无统计学意义.同样,在MS患者组rs2854184多态性位点的2个等位基因A、T分别占63.5%,36.5%,正常对照组分别占64.7%,35.3%,2组比较差异无统计学意义.另外在AIS组内,多态性位点rs2854184不同基因型所对应最大Cobb角分别是从33.8°±10.0°,AT 36.4°±15.0°,TT34.5°±9.1°,3者比较差异无统计学意义.结论 GH基因rs2854184位点多态性与AIS的发生发展没有明显关系.     

青少年特发性脊柱侧凸患者胰岛素样生长因子-1受体基因多态性研究

目的 探讨胰岛素样生长因子-1受体(IGF-1R)基因多态性与青少年特发性脊柱侧凸(AIS)易感性之间的关联性.方法 实验对象为200例MS患者(AIS组)和200名年龄、性别匹配的健康青少年(对照组),记录AIS组的身高、体蓖、月经初潮年龄(女性)、侧弯类型、最大Cobb角和Risser征等临床指标.采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)的方法对所有研究对象进行IGF-1R基因分型,比较不同基因型在AIS组和对照组之间的分布差异,并分析基因多态性与临床指标的相关性.结果 AIS组与对照组的IGF-1R基因等位基因及基因型分布无统计学差异(P＞0.05).女性AIS患者不同基因型所对应的最大Cobb角、Risser征及月经初潮年龄之间差异也无统计学意义(P＞0.05).结论 IGF-1R基因多态性与AIS的发生发展均无相关性.     

Matrilin-1基因多态性与青少年特发性脊柱侧凸支具疗效的相关性

目的 探讨matrilin-1基因多态性与青少年特发性脊柱侧凸(AIS)患者支具治疗效果的相关性.方法 自2005年1月至2008年12月,对门诊行规范化支具治疗的AIS患者进行前瞻性研究.入选对象要求:女性患者;骨骼发育为未成熟状态(Risser征0～3级);月经初潮未至或来潮1.5年以内;标准站立位全脊柱X线片上侧凸Cobb角为20°～40°;排除了先天性和神经肌源性以及其他原因引起的侧凸;无已知的可影响骨塑型和钙代谢的病史和药物使用史;初诊前无支具治疗史;接受支具治疗(Boston支具或Milwaukee支具)期间每3个月复诊1次,随访时间超过2年.符合下述条件之一者,则予以剔除:最终随访不足2年;支具治疗过程中依从性(每日实际佩戴时间与建议佩戴时间的比值)较差(<75%);支具治疗期间未按照医嘱自行更换支具.根据患者侧凸类型选择相应的支具进行治疗.记录初次就诊及末次随访的原发弯的Cobb角.支具治疗失败的标准为原发弯增加>5°.选取matrilin-1基因启动子区域位点rs1149048进行PCR-RFLP基因分型.按支具疗效分为治疗失败和治疗成功两组,比较两组之间的初诊年龄、Risser征、侧凸类型、初诊Cobb角及基因型分布的差异并进行统计学分析.结果 共有77例AIS女孩入选并完成本研究.初诊时平均年龄为(13.0±1.5)年,平均主弯Cobb角为29.5°±7.8°.在平均(2.6±0.3)年随访后,平均主弯Cobb角为30.3°±11.9°.支具治疗失败总共19例(24.7%),支具治疗成功58例(75.3%).支具治疗失败组的初诊Cobb角较大(P>0.05).在不同的侧凸类型中,胸腰双主弯的支具治疗失败率最低(19.4%).基因型GG个体支具治疗失败率(66.7%)明显高于基因型为从或AG的个体.结论 通过早期规范化支具治疗,大部分脊柱侧凸进展可得到控制.初诊Cobb角较大及基因型GG的AIS患者支具疗效较差.     

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

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(x2=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.     

青少年特发性脊柱侧凸患者脊柱柔韧性的影响因素

目的:探讨青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)患者脊柱柔韧性的可能影响因素.方法:选取2006年12月～2008年4月在我院脊柱外科手术治疗的204例AIS患者,男性36例,女性168例,平均年龄15.0岁;平均Cobb角50.1°;平均Risser征3.4度;主弯跨度平均6.8个椎体;主弯顶椎旋转度平均2.0度.摄站立位全脊柱正侧位及仰卧左右侧屈位X线片,计算主弯柔韧性.采用相关分析研究各临床指标与主弯柔韧性的相关性.结果:女性AIS患者的脊柱柔韧性明显高于男性(P<0.05);胸腰弯组和腰弯组AIS患者的脊柱柔韧性显著大于胸弯组(P<0.05),胸腰弯和腰弯组之间无显著性差异(P>0.05).女性AIS患者中的年龄及主弯Cobb角(站立位与侧屈位)均与脊柱柔韧性显著负相关(P<0.05),且胸弯女性AIS患者的月经初潮至手术时间及顶椎旋转度也与脊柱柔韧性显著负相关(P<0.05).男性胸弯AIS患者中侧屈位主弯Cobb角、胸腰弯/腰弯组中主弯Cobb角(站立位与侧屈位)均与脊柱柔韧性显著负相关(P<0.05).主弯跨度及Risser征与脊柱柔韧性均无明显相关性(P>0.05).结论:女性AIS患者脊住柔韧性受年龄、月经初潮至手术时间、主弯Cobb角(站立位与侧屈位)、弯型及顶椎旋转度等因素影响;男性AIS患者的脊柱侧凸柔韧性主要受主弯Cobb角及弯型影响.     

CALM2基因多态性与青少年特发性脊柱侧凸遗传易感性的关联性研究

目的探讨钙调蛋白2基因（CALM2基因）与青少年特发性脊柱侧凸遗传易感性的相关性。方法采集北京协和医院骨科确诊的汉族青少年特发性脊柱侧凸患者107例,对照组107例,病例组按照PUMC分型进行分组。采外周血试剂盒提取DNA。根据国际人类基因组单倍体型图计划提供的基因型数据,选取CALM2基因的SNPs位点,应用VeraCode GoldenGate Genotyping Assay基因芯片进行SNPs基因型鉴定。用关联分析法探索CALM2基因与患者发病及临床表型之间的关系。结果 CALM2的rs10153674等位基因在病例组和对照组中的分布频率统计学上存在显著差异（P=0.003）,rs10153674位点等位基因G与AIS的易感性升高有关。结合PUMC分型,rs10153674和rs1027478基因型在PUMCI型和对照组中的分布频率统计学上存在显著差异（P值分别为0.038,0.006）,rs10153674基因型G/G、rs1027478基因型A/G与PUMCI型的发生有关。结论 CALM2基因遗传变异可能与青少年特发性脊柱侧凸发生相关,有可能是影响AIS易感性的重要因素。PUMCI型AIS的发生可能与rs10153674和rs1027478基因型多态性有关。     

雌激素β受体基因多态性与青少年特发性脊柱侧凸关系的研究

目的 比较分析青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)患者与对照组雌激素β受体(estrogen β receptor,ER β)基因型分布情况,探讨ER β基因多态性与AIS患者易感性、异常生长模式及低骨量之间的关系.方法 对2006年3月至2007年3月的288例(男17例,女271例)AIS患者进行人体形态学测量,记录其年龄、身高、体重、臂长、月经初潮情况、Cobb角、Risser征等指标,并收集其静脉血标本.经体检收集232名(男30名,女202名)健康青少年静脉血标本.应用聚合酶链反应-限制性片断长度多态性技术(PCR-RFLP)检测分析AIS组及正常青少年组ER β基因型,比较两组间及AIS组内各亚组ER β基因型分布情况.结果 AIS组与对照组ER β基因型分布差异无统计学意义(χ2=5.908,P＞0.05).AIS组内比较,初潮年龄≥12岁组Rr型频率高于初潮年龄＜12岁组(P＜0.05),而根据身高、体重指数(BMI)、臂长、Cobb角、Risser征等分组,基因型分布比较差异无统计学意义(P＞0.05).ER B基因两个多态性位点各基因型间所对应的骨密度比较差异无统计学意义(P＞0.05).结论 ER β基因多态性与AIS患者易感性无关联.Rr型患者存在初潮延迟现象,可能在AIS的进展中起一定作用.ER β基因多态性与骨量无相关,可能在AIS的低骨量中不起作用.     

Uncoupled neuro-osseous growth in adolescent idiopathic scoliosis? A preliminary study of 90 adolescents with whole-spine three-dimensional magnetic resonance imaging

Previous literatures revealed abnormal cross-sectional morphology of spinal cord in AIS, suggesting the presence of disproportional growth between the neural and skeletal system. No accurate measurement of whole spine by MRI multiplanar reconstruction and their correlation with Cobb angle were studied. In this study, MRI three-dimensional reconstruction of the whole spine was performed in 90 adolescents (49 AIS with thoracic/thoracolumbar curve, and 41 age-matched healthy controls). Measurements of the ratio of anteroposterior (AP) and transverse (TS) diameter of the cord, the concave and convex lateral cord space (LCS) were obtained at the apical level in AIS patients. Cerebellar tonsillar level related to the basion-opsithion line, location of conus medullaris, cord length, vertebral column length, cord/vertebral column length ratio were obtained. All of the same parameters were also measured in healthy controls at matched vertebral levels and their correlations with Cobb angle were made. We notice that AP, TS, AP/TS and LCS ratio were increased in AIS subjects with low-lying position of cerebellar tonsillar level and elevating position of conus medullary when compared with healthy controls (P < 0.01). AP, AP/TS and LCS ratio were correlated significantly with Cobb angle (P < 0.05). Cord length and vertebral column length were not significantly different between AIS and control group. However, cord/vertebral column length ratio was significantly smaller in AIS group (P < 0.01). Cord length, vertebral column length and cord/vertebral column length ratio were not related with age or Cobb angle (P > 0.05). These data suggest the presence of uncoupled neuro-osseous growth along the longitudinal axis of spinal cord with associated morphologic changes of cross-sectional configuration and relative position of the cord. Some changes are significantly relevant with Cobb angle, which may indicate pathogenesis of AIS.     

Cervical sagittal alignment in adolescent idiopathic scoliosis patients (Lenke type 1–6)

Objective

We collected the radiographic and clinical data of 129 AIS patients (Lenke type 1–6) to analyze the characteristics of cervical sagittal alignment in adolescent idiopathic scoliosis patients and the correlations between cervical sagittal alignment and global sagittal alignment, and clinical symptoms.

女性青少年特发性脊柱侧凸患者自我形象评估的相关影响因素分析

目的:探讨女性青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)患者自我形象评估的影响因素。方法:回顾性分析2010年9月～2011年3月在我院就诊的252例女性AIS患者,年龄12～18岁,平均14.5±1.8岁。均摄取患者站立位全脊柱正侧位X线片,并独立填写一份简体中文版SRS-22问卷。在站立位全脊柱正侧位X线片上测量Cobb角、顶椎旋转度、胸椎后凸角、腰椎前凸角、脊柱冠状面力线偏移及脊柱矢状面力线偏移等参数。采用相关分析研究各临床指标与自我形象评分的相关性。结果:患者平均Cobb角35.5°±12.8°;平均顶椎旋转度2.0°±0.7°;平均胸椎后凸角16.2°±9.0°;平均腰椎前凸角51.3°±9.8°;平均脊柱冠状面力线偏移1.2±0.7cm;平均脊柱矢状面力线偏移2.4±1.5cm;平均体重指数18.3±2.2;平均自我形象评分16.7±2.8分。胸弯和胸腰弯/腰弯的自我形象评分均与主弯Cobb角有相关性(r分别为-0.171,-0.225,P均<0.05);其中大角度胸弯组呈显著相关(r=-0.484,P=0.005)。而其他参数与患者自我形象评估均无明显相关性(P均>0.05)。结论:女性AIS患者的自我形象主要受主弯Cobb角的影响,其中大角度胸弯患者的自我形象受主弯Cobb角的影响最大。     

The mechanisms underlying the variety of preoperative directionalities of shoulder tilting in adolescent idiopathic scoliosis patients with double thoracic curve

Purpose

Preoperative directionality of shoulder tilting seems to be independent of the radiographic features of proximal thoracic (PT) curve in adolescent idiopathic scoliosis (AIS) patients. To date, no study had investigated the mechanisms underlying the variety of preoperative directionalities of shoulder tilting in AIS patients. The purpose of this study was to evaluate the differences of radiographic features between Lenke type 2 (double thoracic curve) AIS patients with different preoperative directionalities of shoulder tilting.

Methods

A total of 130 Lenke type 2 AIS patients were included in this study and were divided into two groups according to the value of radiographic shoulder height (RSH). There were 78 cases (71 females and 7 males) with RSH less than 0 cm in Group A and 52 cases (44 females and 8 males) with RSH equal to or more than 0 cm in Group B. Preoperative standing anteroposterior X-ray films of the spine were obtained in all these subjects and were analyzed with respect to the following parameters: T1 tilt, PT Cobb angle, main thoracic (MT) Cobb angle, the apical level of PT curve, the apical level of MT curve, and RSH. These parameters were compared between these two groups and the correlations between RSH and the other parameters were analyzed in all of these subjects.

Results

No significant difference was found between these two groups with respect to PT Cobb angle or the apical level of PT curve (P > 0.05). The apical level of MT curve was significantly more proximal in Group A compared with Group B (P < 0.05). The MT Cobb angle was significantly larger in Group A compared with Group B (P < 0.05). Both the T1 tilt and the PT Cobb angle/MT Cobb angle ratio in Group A were significantly smaller than those in Group B (P < 0.05). The RSH was positively associated with T1 tilt, the apical level of MT curve, and the PT Cobb angle/MT Cobb angle ratio, but was negatively associated with MT Cobb angle (P < 0.05).

Conclusion

The directionality of shoulder tilting is diverse in Lenke type 2 AIS patients. The preoperative directionality of shoulder mainly depends on the profile of MT curve rather than that of PT curve. The RSH should be carefully evaluated before making a surgical plan in these patients.

     

HTR1A和HTR1B基因与青少年特发性脊柱侧凸的关联研究

目的 研究HTR1A和HTR1B基因多态性与青少年特发性脊柱侧凸(MS)的发生及其表型(性别、Cobb角和PUMC分型)间的关系.方法 对2006年1月至2007年3月诊治的103例MS患者和同期就诊或健康体检的性别和年龄匹配的108例对照者,以单核苷酸多态性(SNPs)位点(rs6294和rs6296)为遗传标记进行分型筛查,对结果分别进行基于等位基因和基因型的单位点关联分析、基因型与表型关联分析.结果 rs6294位点(THR1A基因)的等位基因A在病例组中的频率要明显高于对照组,差异有统计学意义(P=0.041).该位点在病例组中的基因型分布与PUMC分型相关(P=0.008),它的基因型A/A+A/G与PUMCⅢ型患者的发病相关.结论 HTR1A基因可能是PUMCⅢ型脊柱侧弯的一个易感基因,PUMC分型可能有一定的遗传学基础.     

Replication study of the association between adolescent idiopathic scoliosis and two estrogen receptor genes

Adolescent idiopathic scoliosis (AIS) is a common disorder with a strong genetic predisposition. Associations between AIS and common single nucleotide polymorphisms (SNPs) in estrogen receptor genes have been reported. rs9340799 in the gene for estrogen receptor α (ESR1) is reported to be associated with curve severity in Japanese and with AIS predisposition and curve severity in Chinese. In addition, rs1256120 in the gene for estrogen receptor β (ESR2) is reported to be associated with AIS predisposition and curve severity in Chinese. However, the sample sizes of these previous studies were small, and the associations of these SNPs have not been replicated. To examine the association between AIS and estrogen receptor genes, we investigated the association of rs9340799 and rs1256120 with AIS predisposition and curve severity using a large Japanese population, consisting of 798 AIS patients and 637 sex‐matched controls. We found no association of either SNP with AIS predisposition or curve severity in the Japanese population. Considering the statistical power of the present study and the limitations of the previous reports, we conclude that the associations of rs9340799 and rs1256120 with AIS predisposition and curve severity are negative. © 2010 Orthopaedic Research Society Published by Wiley Periodicals, Inc. J Orthop Res 29:834–837     

Association of rs11190870 near LBX1 with adolescent idiopathic scoliosis susceptibility in a Han Chinese population

Purpose

To investigate whether rs11190870 near LBX1 correlates with the susceptibility or curve progression of adolescent idiopathic scoliosis (AIS) in a Han Chinese population.

Methods

A total of 949 AIS patients and 976 age-matched healthy controls were recruited. All the subjects were genotyped using the PCR-based invader assay. Case–control study and case-only study were performed to define the contribution of rs11190870 to predisposition and curve severity of AIS. Additionally, we further conducted a meta-analysis of the study findings together with those of previously reported studies.

Results

A significant association of rs11190870 with AIS was observed in the Han Chinese population (P = 1.8 × 10⁻⁹; odd ratio = 1.51; 95 % confidence interval = 1.33–1.71), and AIS patients with TT genotype had a larger Cobb angle than those with TC or CC genotype (P = 0.005). The meta-analysis confirmed that the positive association of this SNP with AIS in the East Asian population.

Conclusions

The SNP rs11190870 near LBX1 is associated with both susceptibility and curve progression of AIS.     

Thoracic curve correction after posterior fusion and instrumentation of structural lumbar curves in patients with adolescent idiopathic scoliosis

Introduction

Spontaneous thoracic curve correction may occur following selective anterior spinal fusion in patients with adolescent idiopathic scoliosis (AIS). However, a few reports have described outcomes in patients following selective posterior fusion. The aim of this retrospective study was to assess curve correction in AIS patients with major lumbar curves and secondary thoracic curves after selective posterior fusion of the major curve.

Methods

The records of 42 AIS patients with major lumbar and minor thoracic curves who had received selective posterior lumbar fusion with segmental pedicle screw fixation were examined. Preoperative and follow-up radiographs were examined and the following were determined: curve flexibility, Cobb angle measurements of the major and minor curves, thoracolumbar/lumbar and thoracic Cobb measurements. Also, thoracolumbar/lumbar to thoracic Cobb ratios were determined. Minimum follow-up was 2?years. Patients were compared with respect to whether final thoracic curve improvement was (group A) or was not (group B) apparent. Improvement was indicated by a final thoracic curve that was less than the preoperative thoracic curve.

Results

Thoracic curve improvement was apparent in 32 of 42 patients after surgery. The mean preoperative thoracic curve in group A was 22.5° and 15.0° at follow-up, while corresponding values in group B were 35.0° and 39.8°. There were no cases in group A and eight cases in group B in which the preoperative thoracic curve was >30°. All patients in group B had preoperative thoracic curves on lateral bending >20°. Thoracic curvature at final follow-up was strongly correlated with preoperative thoracic curvature (r?=?0.911) and thoracic curvature on lateral bending (r?=?0.948).

Conclusions

Selective posterior fusion with segmental pedicle screw fixation in patients with major lumbar AIS resulted in curve correction in the majority of cases. Preoperative thoracic curvature and thoracic curvature on lateral bending were strongly correlated with the final thoracic curvature.