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Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.

ABSTRACT: Inguinal hernias are some of the most frequently diagnosed conditions in clinical practice and inguinal hernia repair is the most common procedure performed by general surgeons. Studies of inguinal hernias in non-European populations are lacking, though it is expected that such studies could identify novel loci. Further, the cumulative lifetime incidence of inguinal hernia is nine times greater in men than women, however, it is not clear why this difference exists. We conducted a genome-wide association meta-analysis of inguinal hernia risk across 513 120 individuals (35 774 cases and 477 346 controls) of Hispanic/Latino, African, Asian and European descent, with replication in 728 418 participants (33 491 cases and 694 927 controls) from the 23andMe, Inc dataset. We identified 63 genome-wide significant loci (P < 5 × 10-8), including 41 novel. Ancestry-specific analyses identified two loci (LYPLAL1-AS1/SLC30A10 and STXBP6-NOVA1) in African ancestry individuals. Sex-stratified analyses identified two loci (MYO1D and ZBTB7C) that are specific to women, and four (EBF2, EMX2/RAB11FIP2, VCL and FAM9A/FAM9B) that are specific to men. Functional experiments demonstrated that several of the associated regions (EFEMP1 and LYPLAL1-SLC30A10) function as enhancers and show differential activity between risk and reference alleles. Our study highlights the importance of large-scale genomic studies in ancestrally diverse populations for identifying ancestry-specific inguinal hernia susceptibility loci and provides novel biological insights into inguinal hernia etiology.

SUBMITTER: Choquet H

PROVIDER: S-EPMC9262393 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Background Typically, in-person follow-up in clinic is utilized after outpatient inguinal hernia repair. Studies have shown that phone follow-up may be successfully used for the detection of postoperative hernia recurrences. However, no studies have evaluated the detection rates of other postoperative complications, such as emergency department visits and readmissions, with the utilization of phone follow-up after inguinal hernia repair. The objective of our study was to investigate the safety of a phone follow-up care pathway following elective, outpatient inguinal hernia repair. Methods In this retrospective cohort study, adult patients who underwent elective, outpatient inguinal hernia repair between 2013 and 2019 at a large academic health system in the Midwest United States were identified from the electronic health record. Patients were categorized by type of postoperative follow-up: in-person or phone follow-up. Baseline demographics, operative, and postoperative data were compared between follow-up groups. Multivariable logistic regression was performed to investigate predictors of having any related emergency department (ED) visit/readmission/reoperation within 90 days. Results We included 2009 patients who underwent elective inguinal hernia repair during the study period. 321 patients had in-person follow-up only, while 1,688 patients had phone follow-up. There was a higher rate of laparoscopic repair in the phone follow-up group (85.4% vs. 53.0% for in-person follow-up). There were no differences in rates of related 90-day ED visits, readmissions, and reoperations between the phone and in-person follow-up groups. On multivariable logistic regression, receipt of phone follow-up was not a predictor of having 90-day ED visits, readmissions, or reoperations (OR 1.30, 95% CI [0.83, 2.05]). Conclusions Patients who underwent phone follow-up had similarly low rates of adverse outcomes to those with in-person follow-up. Phone follow-up protocols may be implemented as an alternative for patients and provide a means to decrease healthcare utilization following inguinal hernia repair. Electronic supplementary material The online version of this article (10.1007/s00464-020-08005-5) contains supplementary material, which is available to authorized users.

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Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.

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