[1]李 昆,安丽欣,刘 健,等.膝关节骨性关节炎患者ADAM12,CALCA基因多态性与疾病易感性的关联分析[J].现代检验医学杂志,2025,40(03):69-74.[doi:10.3969/j.issn.1671-7414.2025.03.013]
 LI Kun,AN Lixin,LIU Jian,et al.Association Analysis of ADAM12, CALCA Gene Polymorphisms and Disease Susceptibility in Patients with Knee Osteoarthritis[J].Journal of Modern Laboratory Medicine,2025,40(03):69-74.[doi:10.3969/j.issn.1671-7414.2025.03.013]
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膝关节骨性关节炎患者ADAM12,CALCA基因多态性与疾病易感性的关联分析()

《现代检验医学杂志》[ISSN:/CN:]

卷:
第40卷
期数:
2025年03期
页码:
69-74
栏目:
论著
出版日期:
2025-05-15

文章信息/Info

Title:
Association Analysis of ADAM12, CALCA Gene Polymorphisms and Disease Susceptibility in Patients with Knee Osteoarthritis
文章编号:
1671-7414(2025)03-069-06
作者:
李 昆安丽欣刘 健张 倩刘耔序
(秦皇岛市第一医院风湿免疫科,河北秦皇岛 066000)
Author(s):
LI KunAN LixinLIU JianZHANG QianLIU Zixu
(Department of Rheumatology and Immunology,the First Hospital of Qinhuangdao, Hebei Qinhuangdao 066000,China)
关键词:
膝关节骨性关节炎单核苷酸多态性去整合素金属蛋白酶12降钙素相关多肽α遗传易感性
分类号:
R684.3;Q786
DOI:
10.3969/j.issn.1671-7414.2025.03.013
文献标志码:
A
摘要:
目的探究膝关节骨性关节炎(KOA)患者去整合素金属蛋白酶12(ADAM12)基因rs1044122,降钙素相关多肽α(CALCA)基因rs1553005位点的多态性与疾病易感性的关联性。方法选取2022年1月~2024年1月秦皇岛市第一医院收治的188例KOA患者作为研究对象。另选取同期在医院体检的100例健康者作为对照组。应用PCR+凝胶成像系统分析ADAM12基因rs1044122和CALCA基因rs1553005位点的多态性;比较对照组和KOA组等位基因和基因型频率分布差异;Logistic回归模型分析ADAM12基因rs1044122和CALCA基因rs1553005位点在三种遗传模型下(共显性、显性和隐性)与KOA易感性的关系。结果ADAM12基因rs1044122和CALCA基因rs1553005位点的基因型在对照组和KOA组的分布均符合Hardy-Weinberg平衡定律(均P>0.05),具有群体代表性。与对照组相比,KOA组ADAM12rs1044122位点等位基因C频率(41.49%vs32.00%)明显升高,CALCArs1553005位点等位基因C(42.55%vs30.00%)和基因型CC频率(18.08%vs9.00%)明显升高,差异具有统计学意义(χ2=4.980,8.715,8.631,均P<0.05)。Logistic回归模型结果显示,ADAM12rs1044122位点在共显性模型(AAvsCC)下,CC基因型发生KOA风险显著高于AA基因型(OR=1.656,P<0.05);显性模型(AC+CCvsAA)下,携带C等位基因发生KOA风险高于携带A等位基因患者(OR=1.458,P<0.05)。CALCArs1553005位点在共显性模型(GGvsCC)下,CC基因型发生KOA风险显著高于GG基因型(OR=1.643,P<0.05);显性模型(GC+CCvsGG)、隐性模型(GC+GGvsCC)两种遗传模型下,携带C等位基因发生KOA风险均显著高于携带G等位基因患者(OR=1.491,0.795,均P<0.05)。结论ADAM12rs1044122位点等位基因C及CALCA基因rs1553005位点等位基因C和基因型CC会增加KOA发病风险。
Abstract:
Objective To investigate the association between polymorphisms at rs1044122 of the metalloprotease12 (ADAM12) gene and rs1553005 of the calcitionin related peptide alpha (CALCA) gene and disease susceptibility in patients with knee osteoarthritisc (KOA). Methods A total of 188 KOA patients admitted to the First Hospital of Qinhuangdao from January 2022 to January 2024 were selected as the study objects. Another 100 healthy subjects in the same hospital during the same period were selected as the control group. The polymorphisms of ADAM12 rs1044122 and CALCA rs1553005 were analyzed by PCR+ gel imaging system. The frequency distribution of alleles and genotypes was compared between control group and KOA group. Logistic regression model was used to analyze the relationship between ADAM12 rs1044122 and CALCA rs1553005 and susceptibility to KOA under three genetic models (co-dominant, dominant and recessive). Results The genotypes of ADAM12 rs1044122 and CALCA rs1553005 in control group and KOA group were consistent with Hardy-Weinberg equilibrium law (all P>0.05), indicating population representation. Compared with the control group, the allele C frequency (41.49% vs 32.00%) of ADAM12 rs1044122 and the allele C (42.55% vs 30.00%) and genotype CC (18.08% vs 9.00%) frequencies of CALCA rs1553005 in KOA group were significantly increased, with statistical significance (χ2=4.980,8.715,8.631,all P < 0.05). Logistic regression model showed that in the co-dominant model (AA vs CC) of ADAM12 rs1044122, the risk of KOA occurrence in CC genotype was significantly higher than that in AA genotype (OR=1.656, P<0.05). In the dominant model (AC+CC vs AA), the risk of developing KOA was higher in patients with C allele than in patients with A allele (OR=1.458, P<0.05). Under the codominant model (GG vs CC) of CALCA rs1553005, the risk of KOA in CC genotype was significantly higher than that in GG genotype (OR=1.643, P < 0.05). Under the dominant model (GC+CC vs GG) and recessive model (GC+GG vs CC), the risk of developing KOA with C allele was significantly higher than that with G allele (OR=1.491,0.795, all P<0.05).Conclusion ADAM12 gene rs1044122 allele C and CALCA gene rs1553005 allele C and genotype CC increased the risk of KOA.

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备注/Memo

备注/Memo:
基金项目:河北省科技计划项目(202312011)。
作者简介:李昆(1988-),男,硕士,主治医师,研究方向:风湿免疫疾病,风湿性关节炎治疗,E-mail:347077320@qq.com。
更新日期/Last Update: 2025-05-15