摘要
目的研究软骨寡聚基质蛋白(cartilage oligomeric matrix protein,COMP)基因多态性与常染色体显性早熟性膝关节骨关节病的关系。方法实验分为膝关节骨关节病组与对照组两组。膝关节骨关节病组(具有常染色体显性早熟性膝关节骨关节病的六代家族中膝关节骨关节病患者,n=32),对照组(55名年龄匹配的健康对照受试者);通过基因型检测COMP基因多态性;通过膝关节骨关节炎指数评分测量膝关节骨关节炎患者下肢疼痛和功能状态;通过X线片检查分析患者关节受损情况;检测COMP基因多态性在膝关节骨关节病家族不同代数与发病年龄关系;通过酶联免疫吸附测定试剂盒检测COMP和抗CCP抗体水平。结果膝关节骨关节病组性别、年龄、体重和体质量指数与对照组相比,差异无统计学意义(P>0.05),而膝关节骨关节病患者身高较低,臂跨度较窄,差异有统计学意义(P<0.05);膝关节骨关节病组COMP基因突变频率(59.38%)高于对照组(12.73%),差异有统计学意义(P<0.05);膝关节骨关节病患者手很小脊柱侧凸,胫骨和腓骨轻度缩短,髋关节间隙变窄,颈部缩短;随着家族代数增加,COMP基因突变频率增加,平均发病年龄降低,第四代发病年龄为(39.17±8.64)岁,第五代发病年龄为(28.36±6.43)岁,第六代发病年龄为(14.13±3.51)岁,差异有统计学意义(P<0.05);与对照组相比,膝关节骨关节病组COMP和抗CCP抗体水平均明显升高,膝关节骨关节病组COMP突变A等位基因COMP (45.74±7.25)与抗CCP抗体(82.53±7.94)水平高于COMP正常G等位基因(36.17±5.46)和(67.55±3.62),差异有统计学意义(P<0.05)。结论 COMP基因多态性与常染色体显性早熟性膝关节骨关节病紧密相关,血清COMP水平有可能被用作膝关节骨关节病R中软骨代谢的生物学标志物。
Objective To study the relationship between polymorphism of cartilage oligomeric matrix protein( COMP) gene and autosomal dominant early knee osteoarthrosis. Methods All patients were divided into two groups: knee osteoarthrosis group( six-generation family with autosomal dominant early knee osteoarthrosis, knee joint diseases, n = 32);control group( age-matched healthy subjects, n = 55). PCP polymorphism was detected by genotype;lower extremity pain and functions were measured by knee osteoarthritis index;joint damage was analyzed by X-ray examination;the relationship between COMP genetic polymorphism and the age of onset in different generations was detected;COMP and anti-CCP antibodies were detected by enzyme-linked immunosorbent assay kit. Results There were no significant differences in gender, age, weight and body mass index between the knee osteoarthrosis group and the control group( P > 0.05). There were significant differences in knee osteoarthritis patients with lower height and narrower arm span( P < 0.05). The frequency of COMP gene mutation in the knee osteoarthrosis group( 59.38%) was higher than that in the control group( 12.73%) with statistically significant differences( P < 0.05). Knee osteoarthrosis patients had spine scoliosis, slight shortening of the tibia and fibula, narrowing of the hip joint space, and shortening of the neck;the frequency of COMP gene mutation increased with the family algebra;the average age of onset decreased: the fourth generation( 39.17 ± 8.64) years old, the fifth generation( 28.36 ± 6.43), the sixth generation( 14.13 ± 3.51), with statistically significant differences( P < 0.05). Compared with the control group,the levels of COMP and anti-CCP antibodies in the knee osteoarthritis group increased significantly. COMP A allele mutation( 45.74 ± 7.25) and anti-CCP antibody( 82.53 ± 7.94) were higher than COMP normal G allele( 36.17 ± 5.46),( 67.55 ± 3.62) with statistically significant differences( P < 0.05). Conclusions COMP gene polymorphism is closely related
作者
王刚
祝雁冰
关中伟
WANG Gang;ZHU Yan-bing;GUAN Zhong-wei(Department of Orthopaedics,Yingcheng People’s Hospital.Yingcheng,Hubei,432400,China)
出处
《中国骨与关节杂志》
CAS
2020年第2期108-113,共6页
Chinese Journal of Bone and Joint
关键词
软骨寡聚基质蛋白
骨关节炎
膝
基因
多态性
单核苷酸
生物学标记
药理学
下丘脑疾病
染色体畸变
Cartilage oligomeric matrix protein
Osteoarthritis,knee
Genes
Polymorphism,single nucleotide
Biomarkers,pharmacological
Hypothalamic diseases
Chromosome aberrations
