24个单核苷酸多态性位点与皖北地区布加综合征相关性研究

目的探讨24个相关基因单核苷酸多态性(SNPs)位点与皖北地区布加综合征(BCS)的关系,为BCS的诊断和针对性治疗提供新依据。方法选取2017年2月至2019年6月蚌埠医学院第一附属医院收治的80例BCS患者(BCS组),另选取同期80例健康体检者(对照组),静脉血提取DNA,应用Agena MassARRAY SNP结合多重PCR技术、MassARRAY iPLEX单碱基延伸技术和基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)技术通过检测延伸产物相对分子量对21个基因中24个SNPs进行分型检测,分析各基因型、等位基因的差异表达。结果其中6个SNPs位点统计结果不符合Hardy-Weinberg平衡;18个SNPs位点基因型频率分布在BCS组及对照组间差异无统计学意义。BCS组MTHFR C677T(rs1801133)基因位点A等位基因频率高于对照组(OR=2.769,95%CI:1.171~4.465,P=0.004)。结论MTHFR C677T(rs1801133)基因位点A等位基因可能是皖北地区BCS的危险因素。     

云南汉族非综合征性唇腭裂与p53基因多态性的相关性研究

目的:分析p53基因单核苷酸多态性(SNPs)位点的多态性,探究云南汉族非综合征性唇腭裂与p53基因的相关性。方法:选取2016年1月-2018年12月于笔者医院就诊的非综合征性唇腭裂患儿100例为试验组,选取医院同期无先天性畸形正常患儿100例为对照组。采用Taqman探针荧光定量PCR法对p53基因的SNPs位点rs12947788和rs1042522进行基因分型,并用χ^2检验和Logistic回归分析多态位点与非综合征性唇腭裂的相关性。结果:p53的基因SNPs位点rs12947788的等位基因变体A携带者(AA+GA vs GG)发生非综合征性唇腭裂的风险增加(OR=1.393,95%CI 1.030~1.884,P=0.032)。rs1042522(CC vs CG+GG)增加吸烟者母亲生下NSCL/P患儿的风险(OR=2.561,95%CI=1.146~5.721,P=0.022)。rs12947788(AA+GA vs GG)可明显增加有饮酒史母亲(OR=3.235,95%CI=1.158~9.040,P=0.025)生下NSCL/P患儿的风险。结论:云南汉族人群非综合征性唇腭裂与p53基因rs1042522、rs12947788多态具有一定的相关性。     

41个单核苷酸多态性位点与睾丸生殖细胞瘤的相关性研究

目的:通过对76例睾丸生殖细胞肿瘤(TGCTs)患者与148例健康体检人群41个相关基因单核苷酸多态性(SNPs)位点进行病例对照研究,期望发现国内TGCTs患者的遗传易感基因及位点,为临床预测、诊治TGCTs提供新途径。方法:选取国外文献发现的TGCTs患者易感基因的41个SNPs位点,作为本实验待测位点。采用i MLDRTM分析方法,将76例TGCTs患者及148例健康体检人群血液样本进行待测位点分型检测。结果:在我国,ESR2基因的rs2978381、rs10146204、rs12435857、rs1256063位点,ESR1基因的rs9397080位点,PTEN基因的rs11202586位点,CYP1A1基因的rs2606345、rs4646903位点和CYP19A1基因的rs1456432位点与TGCTs相关。结论:本研究中TGCTs患者的相关SNPs位点与国外TGCTs人群存在差异,国内TGCTs患者的相关SNPs位点也不完全相同。     

雌激素受体β的单核苷酸多态性与前列腺癌风险的相关性研究

目的研究雌激素受体β(ERβ)的单核苷酸多态性(SNPs)与前列腺癌(CaP)风险的相关性。方法对40例CaP患者和86例正常对照者利用直接测序法对ERβ基因中的4个SNPs(近端启动子上游的3个SNPsrs3829768,rs1271572,rs3841304和外显子7上的SNPsrs1256049)进行基因分型,分析单个位点的等位基因和基因频率是否与CaP相关。结果由于不符合HardyWeinberg平衡,SNP位点rs3841304被排除。发现在CaP患者中,近端启动子上游的SNPs位点rs3829768(A/G)的G和rs1271572(C/A)的A等位基因频率及其基因型频率均显著低于正常对照者(P<0.01)。结论ERβ基因近端启动子上游有2个SNPs与汉族CaP之间存在显著的相关性。     

高通量测序分析肝移植急性排斥反应相关基因单核苷酸多态性位点的突变

目的利用高通量测序分析肝移植术后急性排斥反应相关度最高的基因单核苷酸多态性(SNP)位点的突变情况。方法收集同种异体原位肝移植术的68例受体外周血样本,根据有否发生急性排斥反应分为急性排斥组(13例)和非排斥组(55例)。通过查阅文献,最终确定与排斥反应发生相关的44个SNP突变位点。以44个SNP位点作为检测靶点,用高通量测序分析对两组受体外周血样本进行检测,经生物信息学分析出与急性排斥反应发生相关基因SNP位点的突变率。结果急性排斥组中的白细胞介素(IL)-10 TT基因型、T等位基因、AA基因型、A等位基因的SNP位点突变率明显高于非排斥组;急性排斥组中的细胞趋化因子受体(CCR)5AG基因型的SNP位点突变率明显低于非排斥组,CCR5 GG基因型的SNP位点突变率明显高于非排斥组;急性排斥组中的IL-4 CT基因型的SNP位点突变率明显高于非排斥组,IL-4 TT基因型的SNP位点突变率明显低于非排斥组;急性排斥组中核因子-κB抑制因子α(NF-κBIA)C等位基因的SNP位点突变率明显高于非排斥组;急性排斥组中维生素D受体(VDR)CC基因型和C等位基因的SNP位点突变率明显低于非排斥组,差异均有统计学意义(均为P0.05)。结论高通量测序分析发现肝移植术后急性排斥反应相关基因中,其SNP位点突变率较高的包括IL-10 TT基因型、T等位基因、AA基因型、A等位基因,CCR5 GG基因型、AG基因型,IL-4 CT基因型、TT基因型,NF-κBIA C等位基因,VDR CC基因型和C等位基因。     

胆固醇结石患者固醇携带蛋白2基因单核苷酸多态性的检测

目的:检测胆固醇结石患者和非胆石患者固醇携带蛋白2(SCP2)基因单核苷酸多态性(SNP),并探讨SNP与胆固醇结石的关系.方法:应用聚合酶链式反应-单链构象多态性(PCR-SSCP)银染技术并结合DNA直接测序,检测了58例散发胆固醇结石病人和50例非胆石病人SCP2基因的部分启动子区、全部编码区及部分3,未翻译区序列.结果:SCP2基因第14外显子检出变异DNA单链泳动条带.58例散发胆固醇结石病人中共有31例检测出变异DNA单链泳动带,突变率为53.45%;而50例非胆石病人仅有7例检测到变异泳动带,突变率为14.00%;两组突变率差异有显著性(x2=20.123,P＜0.001).部分病例pCR产物直接测序发现G284→A碱基颠换,为同义突变.结论:SCP2基因 284位点突变不影响SCP2蛋白的结构和功能,但G284→A的基因型频率在胆固醇结石患者较非胆固醇结石病人为高,有一定的诊断参考价值.     

EZH2基因多态性与中国女性乳腺癌易感性的分析

目的探讨Zeste同源物增强子2(EZH2)基因的单核苷酸多态性(SNPs)与乳腺癌发生风险之间的关系。方法纳入在全国22家三级甲等医院就诊的1 039例乳腺癌患者和1 040例对照者。检测3个EZH2基因SNPs位点(rs2302427 C>G、rs12670401 T>C和rs6464926 C>T)的基因型分布情况以及不同基因型与乳腺癌发生风险的相关性。使用数据库乳腺癌数据分析EZH2在乳腺癌组织中的表达情况及其与患者预后的关系。结果 EZH2 rs6464926 CC基因型与TT基因型(OR=1.362, P=0.015)和显性模型(OR=1.22, P=0.045)乳腺癌发病风险相比差异具有统计学意义。亚组分析表明, 在BMI≥24 kg/m2的女性中, 与野生型相比, rs6464926位点TC基因型(P=0.050)、TT基因型(P=0.025)和显性模型(TC+TT, P=0.021)患乳腺癌风险差异具有统计学意义。rs6464926位点与EZH2基因表达具有相关性(P=6.89E-47)。EZH2基因在乳腺癌组织中高表达(P<0.001), 并...     

特发性脊柱侧凸患者二肽基肽酶9基因多态性研究

目的:探讨二肽基肽酶9(dipeptidyl-peptidase 9,DPP9)基因多态性与青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)发生发展的关系.方法:选择571例AIS患者及236例正常对照,AIS患者的Cobb角均大于20°.结合汉族人单倍体型资料,选取rs10406145、rs11670570、rs2286367、rs2277733及rs732631 5个单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点,采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)的方法对这5个SNPs位点进行基因分型.结果:AIS患者组DPP9基因5个SNPs位点的基因型及等位基因分布与正常对照比较没有明显差异.在已经达到骨骼成熟或者已经接受手术治疗的患者中,这5个SNPs位点不同基因型所对应的最大Cobb角没有明显差异.结论:DPP9基因多态性与AIS的发生发展没有明显关系.     

桂西地区中老年人脂联素基因多态性与骨质疏松症的相关性

目的 探讨桂西地区中老年人脂联素基因多态性与骨质疏松症的相关性。方法 选取桂西地区中老年人志愿者623名,进行超声骨密度测量、脂联素基因多态性位点分析及SNPs位点的连锁不平衡分析。结果 同年龄（55岁以上）男性骨量值高于女性（P＜0.05）,骨量正常的个体比例随年龄的增长而下降,而骨质疏松症的患病率则随年龄增长而增加。脂联素基因5个SNPs位点均达到Hardy-Weinberg平衡（P＞0.05）,其中SNP位点rs1063539的CG基因型在骨质疏松病例组分布高于正常组,而GG基因型在病例组中的分布则低于正常组。CG型可能是骨密度的一个保护基因型,等位基因C可能与骨质疏松症的发生呈负相关。SNP位点rs3774261的AA基因型在病例组中的分布高于正常组。连锁不平衡检测发现,脂联素基因的5个SNP位点之间不存在连锁关系。结论 脂联素基因的SNP位点rs1063539和rs3774261与桂西地区中老年人群的骨质疏松有密切关系。     

肿瘤转移抑制基因HTPAP的Haploview单体型构建分析

目的 通过单核苷酸多态性(SNP)检测对肿瘤转移抑制基因HTPAP进行单体型构建和分析.方法 取100例肝细胞癌(HCC)新鲜标本,应用激光捕获组织显微切割获取纯肝癌细胞、提取DNA,对HTPAP基因上已登录的15个SNP位点进行检测,应用Haploview软件构建单体型.结果 15个SNP位点中,有8个表现为单态、5个呈多态性、2个未能检测出.对100例肝细胞癌的该5个多态位点进行单体型构建后发现11种单体型,其中3种单体型(C-A-T-C-A、C-G-T-C-A和T-A-G-G-G)最常见,占87%,另外8种单体型占13%.4个SNP(rs7007097、rs3830326、rs1149、rs3739252)表现为强连锁不平衡关系,尽管rs11539529出现重组现象,但从整体看还是属于同一个单体型块.结论 肿瘤转移抑制基因HTPAP在肝癌中常见C-A-T-C-A、C-G-T-C-A和T-A-G-G-G三种单体型,针对不同单体型研究分析可能为肝癌转移复发、预后预测提供新的途径和指标.     

Relationship between the single nucleotide polymorphisms in has-mir-125a-5p rs12975333 and expression of has-mir-125a-5p in Han Chinese female breast cancer patients

Objective To investigate the relationship between the single nucleotide polymorphisms ( SNPs) in has-mir-125a-5p rs12975333 and the expression of has-mir-125a-5p and clinicopathological cheracteristics of female breast cancer in Han Chinese women. Methods Genomic DNA was extracted from peripheral blood lymphocytes.     

Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations

The estrogen receptor-alpha gene (ESR1) was selected as a positional candidate under a type 2 diabetes linkage peak at 6q24-27. A total of 42 ESR1 single nucleotide polymorphisms (SNPs) were genotyped in 380 African-American type 2 diabetic case subjects with end-stage renal disease (ESRD) and 276 African-American control subjects. A total of 22 ancestry informative markers were also genotyped, and the program Admixmap was used to adjust allelic and haplotypic association tests for individual estimates of admixture. The most significant association with type 2 diabetes-ESRD was with rs1033182 in intron 2 (P = 0.013, admixture-adjusted P(a) = 0.021). Genotyping 17 SNPs across a region of ESR1 intron 1-intron 2 in an expanded population of 851 case and 635 control subjects supported association with rs1033182 (P = 0.004, P(a) = 0.027) and with an independent six-SNP haplotype of high linkage disequilibrium spanning 6.4 kb (P < 0.0001, P(a) < 0.0001). The same 17 ESR1 SNPs were genotyped in 300 European-American type 2 diabetes-ESRD case subjects and 310 European-American control subjects. Two intron 2 SNPs, rs2431260 (P = 0.015) and rs1709183 (P = 0.019), and a four-SNP haplotype containing these SNPs (P = 0.033) were associated with type 2 diabetes and/or ESRD. Results suggest that intron 1 and intron 2 of the ESR1 gene may contain functionally important regions related to type 2 diabetes or ESRD risk.     

汉族女性乳腺癌患者has-mir-125a-5p基因的rs12975333位点的单核苷酸多态性及其在癌组织的表达研究

目的 探讨汉族女性乳腺癌患者has-mir-125a-5p基因rs12975333位点单核苷酸多态性(SNP)及has-mir-125a-5p基因在癌组织表达水平与乳腺癌发生发展的关系.方法 选取汉族女性乳腺癌患者289例、乳腺纤维腺瘤49例和相匹配的健康汉族妇女外周血338例,分离淋巴细胞,抽提基因组DNA,采用taqman-MGB探针检测338例乳腺肿瘤及338例健康对照组has-mir-125a-5p的rs12975333位点的单核苷酸多态性;采用茎环Real-time RT-PCR检测289例乳腺癌组织及其正常腺体组织中has-mir-125a-5p的表达水平.结果 乳腺癌组has-mir-125a-5p基因rs12975333位点基因型为GG型273例(94.5%)、GT型16例(5.5%);乳腺纤维腺瘤组及对照组has-mir-125a-5p基因m12975333位点基因型均为GG型;乳腺癌组织has-mir-125a-5p的表达水平(0.19 ±0.04)低于腺体组织(0.37±0.05),差异有统计学意义(P=0.04);携带T等位基因乳腺癌组织中has-mir-125a-5p下调水平较GG基因型表达者更为明显(P=0.022).has-mir-125a-5p的表达降低在发病年龄较晚(P=0.036),ERBB2(P=0.007)、ERBB3(P=0.04)受体表达阴性及存在腋窝淋巴结转移(P=0.001)的乳腺癌组织中更为明显.结论 汉族妇女has-mir-125a-5p基因rs12975333位点的G＞T变异可能与乳腺癌遗传易感性有关;has-mir-125a-5p表达与乳腺癌发生发展相关,是一个潜在的乳腺癌分子标志物.

Abstract：

Objective To investigate the relationship between the single nucleotide polymorphisms (SNPs) in has-mir-125a-5p rs12975333 and the expression of has-mir-125a-5p and clinicopathological cheracteristics of female breast cancer in Han Chinese women. Methods Genomic DNA was extracted from peripheral blood lymphocytes. taqman-MGB assay was used to type breast cancer of 338 cases and 338 controls. Expression levels of has-mir-125a-5p in 289 biopsies were examined using stem-loop real-time RTPCR and the clinicopathological cheracteristics of breast cancer were evaluated. Result The gene frequencies (GG,GT,TT) of rsl2975333 in the patients were GG 273 (94. 5% ), GT 16 (5.5%),TT 0(0%), while in breast fibroadenoma and controls there were GG 49 ( 100% ), 338 (100%). The expression level of has-mir-125a-5p in breast cancer(0. 19 ±0. 04) was lower than that in the matched nontumor adjacent tissue specimens (0. 37 ± 0. 05 ) ( P = 0. 04 ) .The expression level of minor T allele of mature miR-125a in breast cancer patients was lower than that in has-mir-125a-5p-GG carying(P =0.022). The expression of has-mir-125a-5p was down-regulated in primary breast cancer, especially in elder patients ( P = 0. 036) and lymph node metastasis groups (P = 0. 001) and with negative ERBB2 (P = 0. 007), ERBB3 (P =0. 04). Conclusions rs12975333 polymorphisms in has-mir-125a-5p gene may work as a risk factor of breast cancer in Han Chinese women. The altered expression of has-mir-125a-5p might play a role in the pathogenesis and progression of breast carcinoma.     

Low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms are associated with bone mass in both Chinese and whites.

In this study, the associations of novel LRP5 variants with BMD variation were detected and some replicated in the two ethnic groups of Chinese and white origins, respectively. These data support the concept that LRP5 variation can contribute to minor and major variation in bone structure. INTRODUCTION: Mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene have been shown to cause both high and low bone mass. However, it is still controversial whether LRP5 is associated with normal BMD variation. This study explored the association of LRP5 with BMD phenotypes at three clinically important skeletal sites-the spine, hip, and ultradistal radius (UD)-in two independent populations of Chinese and white ethnicities, respectively. MATERIALS AND METHODS: The Chinese sample consisted of 733 unrelated subjects. The white sample was made up of 1873 subjects from 405 nuclear families. High-density single nucleotide polymorphisms (SNPs) across the whole LRP5 gene were genotyped and analyzed in both samples. RESULTS: Linkage disequilibrium (LD) analyses showed that the haplotype structures of LRP5 between Chinese and whites were in good agreement. Association tests showed that polymorphisms in block 5 spanning intron 7 to intron 19 of LRP5 significantly associated with spine BMD variation in both samples. Particularly, the significant association of SNP rs491347 in intron 7 with spine BMD in the Chinese sample (p=0.002) was replicated in whites, even after adjusting for multiple testing (p=0.005). Its strongly associated SNP rs1784235 could cause the loss of an estrogen receptor alpha (ERalpha) binding site in LRP5, which could partially explain the above replicated association. However, we did not observe any significant replication with BMD variation at the hip and UD. After accounting for multiple testing, associations with BMD variation at these two sites were mainly found in Chinese. Sex-stratified analyses further revealed that the LRP5 associations with BMD in Chinese and whites were driven by male and female subjects, respectively. CONCLUSIONS: Our work supported LRP5 genetic variants as possible susceptibility factors for osteoporosis and fractures in humans. Especially, the SNP rs491347 and its strongly associated SNPs (e.g., rs1784235) could be important to human osteoporosis phenotypes.     

Polymorphisms of the CLCN7 gene are associated with BMD in women.

Here we show that a common polymorphism causing a valine to methionine amino acid substitution at codon 418 (V418M) in the CLCN7 gene is associated with femoral neck BMD in women. Our study adds to accumulating evidence that shows that common allelic variants in monogenic bone disease genes often contribute to BMD regulation in normal subjects. INTRODUCTION: The CLCN7 gene is a strong candidate for regulation of BMD, because mutations in CLCN7 cause some forms of osteopetrosis, a disease characterized by impaired osteoclast function and increased BMD. In this study, we sought to determine whether common allelic variation within CLCN7 was associated with BMD in the normal population. MATERIALS AND METHODS: We conducted mutation screening of the exons and intron-exon boundaries in CLCN7 by DNA sequencing in 50 normal subjects. We conducted an association study between common polymorphisms in CLCN7 and haplotypes defined by these polymorphisms and BMD values at the lumbar spine and femoral neck in a population-based cohort study of 1077 Scottish women 45-55 years of age. RESULTS: We identified 24 polymorphisms, but most were rare and only 4 had allele frequencies of >5%. These were a conservative single nucleotide polymorphism (SNP) in exon 1 (rs3751884), a 50-bp tandem repeat polymorphism within intron 8, and two SNPs within exon 15 (rs12926089 and rs12926669), of which one (rs12926669) predicts an amino acid change from valine to methionine at codon 418 (V418M). The exon 15 SNPs were in strong linkage disequilibrium and were both associated with femoral neck BMD (p = 0.001-0.003). None of the other polymorphisms were associated with BMD, and long-range haplotypes showed a much weaker association with BMD than the exon 15 SNPs. The V418M polymorphism was an independent predictor of femoral neck BMD on multiple regression analysis accounting for 1% of the variance in BMD at this site. CONCLUSIONS: Our study indicates that the V418M polymorphism of CLCN7 contributes to the genetic regulation of femoral neck BMD in women and adds to accumulating evidence that indicates that subtle polymorphic variation in genes that cause monogenic bone diseases also contribute to regulation of BMD in normal subjects.     

A Novel Single Nucleotide Polymorphism in XRCC4 Gene is Associated with Gastric Cancer Susceptibility in Taiwan

Background The DNA repair gene XRCC4, an important caretaker of the overall genome stability, is thought to play a major role in the human carcinogenesis. We investigate some novel and important polymorphic variants of XRCC4, at codon 247 (rs3734091), G-1394T (rs6869366), intron 3 (rs28360071), and intron 7 (rs28360317), of their associated with gastric cancer susceptibility. Materials and Methods In this hospital-based case-control study, the association of XRCC4 polymorphisms with gastric cancer risk in a Taiwanese population was investigated. In total, 121 patients with gastric cancer and 121 age-matched healthy controls recruited were genotyped investigating these polymorphisms’ association with gastric cancer susceptibility. Results We found a significant difference in the frequency of the XRCC4 G-1394T genotype, but not others, between the gastric cancer and control groups. Those who had G/T or G/G at XRCC4 G-1394T showed a 3.79-fold (95% confidence interval = 1.47–9.82) increased risk of gastric cancer compared to those with T/T. As for XRCC4 codon 247, intron 3, or intron 7, there was no difference in distribution between the gastric cancer and control groups. Conclusions Our findings suggest that the G allele of the XRCC4 G-1394T may contribute to gastric carcinogenesis and may be useful for gastric cancer early detection and prevention. C.-F. Chiu and C.-H. Wang contributed equally to this study.     

ErbB4 receptor polymorphism 2368A>C and risk of breast cancer

PurposeA number of single nucleotide polymorphisms (SNPs) in EebB4 gene have been studied, which has clarified their impact on breast cancer in different populations. Nevertheless, the importance of rs13423759 in breast cancer has not been studied and its effect remained almost unclear. In this paper, we evaluated the frequency of rs13423759 different alleles in Iranian population and statistically analyzed their association with breast cancer risk.Materials and methodsAllele-specific Primer PCR (ASP-PCR) was recruited in this study to genotype rs13423759 position in 172 breast cancer and 148 healthy control subjects. The genotypes of control and cases were analyzed statistically to find the association between rs13423759 alleles and breast cancer incidence and its clinicopathological characteristics. In silico studies were performed in order to find the mechanistic viewpoint of rs13423759 alleles in breast cancer.Resultsrs13423759 allele C was shown to be significantly associated with breast cancer risk, HER2 positivity and increased risk of metastasis. Reciprocally, allele A was correlated with the lowered risk of breast cancer. The in silico studies showed that rs13423759 allele C is capable to strengthen the interaction between miR-548as, an oncomiRNA, and ErbB4 mRNA, leading to its lowered concentration in the cells.Conclusion: rs13423759 allele C is significantly associated with the enhanced risk of breast cancer, elevated metastasis and HER2 positivity.     

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.