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预防医学  2024, Vol. 36 Issue (7): 580-583    DOI: 10.19485/j.cnki.issn2096-5087.2024.07.007
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白细胞端粒长度与白内障的双向孟德尔随机化研究
陈蓉1, 莫口妈妮2, 柯晓鸿3, 王楚怀1
1.中山大学附属第一医院康复医学科,广东 广州 510030;
2.乐山市市中区人民医院,四川 乐山 614000;
3.中山大学,广东 广州 510030
Association between leukocyte telomere length and cataracts: a bidirectional Mendelian randomization study
CHEN Rong1, Mokoumani2, KE Xiaohong3, WANG Chuhuai1
1. Department of Rehabilitation Medicine, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510030, China;
2. The People's Hospital of Leshan Shizhong District, Leshan, Sichuan 614000, China;
3. Sun Yat-sen University, Guangzhou, Guangdong 510030, China
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摘要 目的 采用双向孟德尔随机化(MR)方法分析白细胞端粒长度与白内障的因果关系,为白内障早期诊断和防治提供依据。方法 白细胞端粒长度资料来源于全基因组关联研究(GWAS)的Meta分析(78 952人),白内障GWAS资料来源于英国生物银行(8 890例病例和454 120名对照)。选择与白细胞端粒长度显著相关的单核苷酸多态性位点为工具变量,采用逆方差加权法进行双向MR分析。采用Cochran Q检验评估异质性;采用MR-Egger回归法检验水平多效性;采用留一法和MR-PRESSO检验去除离群值。结果 正向MR分析结果显示,白细胞端粒长度缩短与白内障风险增加有关(OR=0.991,95%CI:0.990~0.997);反向MR分析结果显示白内障风险与白细胞端粒长度不存在统计学关联(P>0.05)。敏感性分析未发现存在异质性、水平多效性和离群值,MR分析结果稳健(均P>0.05)。结论 较短的白细胞端粒长度可能与白内障风险增加有关。
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陈蓉
莫口妈妮
柯晓鸿
王楚怀
关键词 端粒长度白内障孟德尔随机化全基因组关联研究    
AbstractObjective To examine the association between leukocyte telomere length and cataract using bidirectional Mendelian randomization (MR) approach, so as to provide the basis for early diagnosis and prevention of cataracts. Methods Leukocyte telomere length data were collected through a meta analysis of genome-wide association studies (GWAS), including 78 952 participants, and the GWAS data of cataract were collected through the UK Biobank, including 8 890 cases and 454 120 controls. A bidirectional MR analysis was performed using the inverse-variance weighted (IVW) method, and single nucleotide polymorphisms (SNPs) which were associated with leukocyte telomere length were selected as instrumental variables. The heterogeneity was assessed using the Cochran's Q test, the horizontal pleiotropy was assessed using the MR-Egger regression and the outlier was verified with the leave-one-out and MR-PRESSO test. Results Forward MR analysis results showed that shortened leukocyte telomere length had an increased risk of cataract (OR=0.991, 95%CI: 0.990-0.997). Reverse MR analysis results showed no statistically significant association between leukocyte telomere length and cataract (P>0.05). Cochran's Q test detected no heterogeneity, and neither the MR-Egger regression nor the MR-PRESSO test revealed horizontal pleiotropy of instrumental variables (both P>0.05). Leave-one-out analysis showed robustness of the MR analysis results. Conclusion Shorter leukocyte telomere length might be associated with increased risk of cataract.
Key wordstelomere length    cataract    Mendelian randomization    genome-wide association study
收稿日期: 2024-02-23      修回日期: 2024-05-16      出版日期: 2024-07-10
中图分类号:  R776.1  
基金资助:国家重点研发计划项目(2022YFC2009700); 粤港科技创新联合资助项目(2023A0505010014); 国家自然科学基金项目(82172532)
作者简介: 陈蓉,博士研究生在读,康复医学与理疗学专业
通信作者: 王楚怀,E-mail:wangchuh@mail.sysu.edu.cn   
引用本文:   
陈蓉, 莫口妈妮, 柯晓鸿, 王楚怀. 白细胞端粒长度与白内障的双向孟德尔随机化研究[J]. 预防医学, 2024, 36(7): 580-583.
CHEN Rong, Mokoumani, KE Xiaohong, WANG Chuhuai. Association between leukocyte telomere length and cataracts: a bidirectional Mendelian randomization study. Preventive Medicine, 2024, 36(7): 580-583.
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http://www.zjyfyxzz.com/CN/10.19485/j.cnki.issn2096-5087.2024.07.007      或      http://www.zjyfyxzz.com/CN/Y2024/V36/I7/580
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