Division of Pediatric Genetics and Metabolism, Children's Medical Center, Taichung Veterans General Hospital, Taichung, Taiwan.
Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.
Int J Med Sci. 2023 Mar 27;20(5):607-615. doi: 10.7150/ijms.82331. eCollection 2023.
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. 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. Adult-onset inguinal hernia was associated with rs3809060 GT/TT genotype in males and 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, < 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/m (OR: 0.75, 95% CI: 0.65 - 0.86, <0.001 in males, and OR: 0.60, 95% CI:0.37 - 0.98, = 0.042 in females), were inversely associated with inguinal hernia. After stratifying BMI, overweight males with 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, = 0.002). 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.
腹股沟疝修补术是全球最常见的手术之一。然而，关于其潜在遗传机制的信息有限。关于汉族人群腹股沟疝相关遗传因素的研究尚缺乏。因此，我们旨在开展一项基于医院的研究，评估台湾地区腹股沟疝的遗传因素和合并症。
这是一项回顾性病例对照研究。我们利用台湾精准医学计划的数据，在 2019 年 6 月至 2020 年 6 月期间，从台中荣民总医院的电子病历中识别出 1000 例腹股沟疝患者和 10021 例无腹股沟疝的匹配对照。通过台湾生物银行 2 版（TWBv2）芯片对与腹股沟疝相关的 4 个易感基因座（rs2009262、rs13091322、rs6991952 和 rs3809060）进行了基因分型。腹股沟疝、手术类型和合并症从台中荣民总医院的电子健康记录中获得。
成人腹股沟疝与男性 rs3809060 GT/TT 基因型和女性 rs2009262 TC/CC 基因型相关。此外，我们还确定了与腹股沟疝相关的性别特异性危险因素；男性的良性前列腺增生（OR：3.19，95%CI：2.73-3.73，<0.001）、女性的慢性阻塞性肺疾病（OR：2.34，95%CI：1.33-4.11，p=0.003）和超重（BMI≥24kg/m）（男性 OR：0.75，95%CI：0.65-0.86，<0.001，女性 OR：0.60，95%CI：0.37-0.98，p=0.042）与腹股沟疝呈负相关。在对 BMI 进行分层后，携带 rs2009262 TC/CC 基因型的超重男性患腹股沟疝的风险更高（OR：1.31，95%CI：1.07-1.61，p=0.01）。此外，rs3809060 与男性直疝型腹股沟疝患者有特定相关性（OR：1.62，95%CI：1.19-2.22，p=0.002）。
遗传易感性似乎以性别特异性方式参与台湾人群腹股沟疝的发病机制。需要进一步的研究来阐明遗传和合并症之间的复杂相互作用。
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