Sex-specific genetic variants associated with adult-onset inguinal hernia in a Taiwanese population

Hsin-Chien Yen; I-Chieh Chen; Guan-Cheng Lin; Yu-Yuan Ke; Ming-Chih Lin; Yi-Ming Chen; Chia-Chi Hsu

doi:10.7150/ijms.82331

Sex-specific genetic variants associated with adult-onset inguinal hernia in a Taiwanese population

Int J Med Sci. 2023 Mar 27;20(5):607-615. doi: 10.7150/ijms.82331. eCollection 2023.

Authors

Hsin-Chien Yen¹, I-Chieh Chen², Guan-Cheng Lin², Yu-Yuan Ke¹, Ming-Chih Lin^{3

4

5

6

7}, Yi-Ming Chen^{2

3

4

8

9}, Chia-Chi Hsu^{1

3}

Affiliations

¹ Division of Pediatric Genetics and Metabolism, Children's Medical Center, Taichung Veterans General Hospital, Taichung, Taiwan.
² Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.
³ School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
⁴ Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan.
⁵ Children's Medical Center, Taichung Veterans General Hospital, Taichung, Taiwan.
⁶ Department of Food and Nutrition, Providence University, Taichung, Taiwan.
⁷ School of Medicine, Chung Shan Medical University, Taichung, Taiwan.
⁸ Division of Allergy, Immunology, and Rheumatology, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
⁹ Institute of Biomedical Science and Rong Hsing Research Center for Translational Medicine, National Chung Hsing University, Taiwan.

Abstract

Introduction: Inguinal hernia repair is one of the most common surgeries worldwide. However, there is limited information on its underlying genetic mechanism. Studies on the genetic factors related to inguinal hernia in Han Chinese are lacking. Therefore, we aimed to conduct a hospital-based study to assess the genetic factors and comorbidities underlying inguinal hernia in Taiwan. Materials and Methods: This was a retrospective case-control study. Utilizing data from the Taiwan Precision Medicine Initiative, we identified 1000 patients with inguinal hernia and 10,021 matched controls without inguinal hernia between June 2019 and June 2020. Four susceptibility loci (rs2009262, rs13091322, rs6991952, and rs3809060) associated with inguinal hernia were genotyped by the Taiwan Biobank version 2 (TWBv2) array. Inguinal hernia, surgery types, and comorbidities were obtained from the electronic health records of Taichung Veterans General Hospital. Results: Adult-onset inguinal hernia was associated with WT1 rs3809060 GT/TT genotype in males and EFEMP1 rs2009262 TC/CC genotype in females. In addition, we identified sex-specific risk factors associated with inguinal hernia; benign prostatic hyperplasia in males (OR: 3.19, 95% CI: 2.73 - 3.73, p< 0.001), chronic obstructive pulmonary disease in females (OR: 2.34, 95% CI: 1.33 - 4.11, p = 0.003) and overweight, defined by body mass index ≧24 kg/m² (OR: 0.75, 95% CI: 0.65 - 0.86, p<0.001 in males, and OR: 0.60, 95% CI:0.37 - 0.98, p = 0.042 in females), were inversely associated with inguinal hernia. After stratifying BMI, overweight males with EFEMP1 rs2009262 TC/CC genotype exhibited a higher risk of inguinal hernia (OR: 1.31, 95% CI: 1.07 - 1.61, p = 0.01). Additionally, rs3809060 was specifically associated with male patients with direct-type inguinal hernia (OR: 1.62, 95% CI: 1.19 - 2.22, p = 0.002). Conclusion: Genetic susceptibility appears to participate in the pathogenesis of inguinal hernia in the Taiwanese population in a sex-specific manner. Future studies are needed to illuminate the complex interplay between heredity and comorbidities.

Keywords: EFEMP1 rs2009262; BMI; BPH; COPD; Inguinal hernia; WT1 rs3809060.

MeSH terms

Adult
Case-Control Studies
Extracellular Matrix Proteins
Female
Hernia, Inguinal* / epidemiology
Hernia, Inguinal* / genetics
Humans
Male
Overweight / complications
Retrospective Studies
Risk Factors

Substances

EFEMP1 protein, human
Extracellular Matrix Proteins