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Background <p>Validated frameworks for defining chronic obstructive pulmonary disease (COPD) using real-world electronic health records (EHR) data in non-European populations and across multiple healthcare settings and remain limited. This study aimed to develop and validate an EHR-based phenotype for COPD in a large Chinese elderly cohort and assess its utility by replicating known COPD loci.</p> Methods <p>We analyzed EHR and genetic data from over 130,000 adults enrolled in the Kunshan Aging Research with E-health (KARE) cohort. An iterative, validation-driven process was used to develop the algorithm for identifying COPD case using EHR data from primary care, hospital outpatient and inpatient, and disease registries. Positive predictive value (PPV) was assessed via independent chart review by two respiratory physicians. We then tested associations between COPD and 5 established COPD susceptibility loci using logistic regression adjusted for age, sex, ever-smoking history, smoking duration, and genetic principal components.</p> Results <p>The final algorithm achieved a PPV of 88.3%. We identified 4,944 COPD cases using this algorithm and selected 86,561 controls. Four COPD loci were successfully replicated: <i>FAM13A</i> (OR = 1.143, <i>P</i> = 6.53*10<sup>− 7</sup>), <i>AGER</i> (OR = 1.130, <i>P</i> = 1.24*10<sup>− 4</sup>), <i>DSP</i> (OR = 1.066, <i>P</i> = 0.014), <i>TGFB2</i> (OR = 1.052, <i>P</i> = 0.046).</p> Conclusion <p>We present a validated, multi-setting EHR-based COPD definition that replicates known genetic associations in a large Chinese elderly population. These results support the integration of biorepositories and real-world clinical data as a scalable strategy to enhance population diversity of COPD genetic research.</p>

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Replication of COPD susceptibility loci in a large Chinese elderly population using a validated, multi-setting EHR phenotype

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月5日

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  • Haonan Pan,
  • Peng Wu,
  • Kunyan Sun,
  • Zhixin Xie,
  • Ziyu Qiu,
  • Qiaoshi Zhang,
  • Zijian Tian,
  • Xiangqing Hou,
  • Shiteng Gao,
  • Ying Chen,
  • Xiaozhou Zhou,
  • Yao Cheng,
  • Jian Shao,
  • Benrui Wu,
  • Qian Li,
  • Wanqing Dong,
  • Anjie Peng,
  • Yuxuan Du,
  • Ying Pan,
  • Kaixin Zhou,
  • Tian Xie

摘要

Background

Validated frameworks for defining chronic obstructive pulmonary disease (COPD) using real-world electronic health records (EHR) data in non-European populations and across multiple healthcare settings and remain limited. This study aimed to develop and validate an EHR-based phenotype for COPD in a large Chinese elderly cohort and assess its utility by replicating known COPD loci.

Methods

We analyzed EHR and genetic data from over 130,000 adults enrolled in the Kunshan Aging Research with E-health (KARE) cohort. An iterative, validation-driven process was used to develop the algorithm for identifying COPD case using EHR data from primary care, hospital outpatient and inpatient, and disease registries. Positive predictive value (PPV) was assessed via independent chart review by two respiratory physicians. We then tested associations between COPD and 5 established COPD susceptibility loci using logistic regression adjusted for age, sex, ever-smoking history, smoking duration, and genetic principal components.

Results

The final algorithm achieved a PPV of 88.3%. We identified 4,944 COPD cases using this algorithm and selected 86,561 controls. Four COPD loci were successfully replicated: FAM13A (OR = 1.143, P = 6.53*10− 7), AGER (OR = 1.130, P = 1.24*10− 4), DSP (OR = 1.066, P = 0.014), TGFB2 (OR = 1.052, P = 0.046).

Conclusion

We present a validated, multi-setting EHR-based COPD definition that replicates known genetic associations in a large Chinese elderly population. These results support the integration of biorepositories and real-world clinical data as a scalable strategy to enhance population diversity of COPD genetic research.