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BackgroundMuch of our knowledge about inguinal hernias is based on males. Meanwhile, it is established that women have worse outcomes after inguinal hernia repair, with more chronic pain and higher recurrences. Pediatric literature shows inguinal hernias in females are more likely to be bilateral, incarcerated, and carry a stronger genetic predisposition than males. We aimed to evaluate sex-based differences in inguinal hernia factors in adults, to help supplement the paucity of literature in the adult population.MethodsAn institutional database of patients undergoing repair of primary inguinal hernias was queried with focus on preoperative risk factors and operative characteristics. Multivariate analysis was performed looking for independent variables associated with a greater number of hernia defects found intraoperatively.ResultsAmong 494 patients, 202 (40.9%) were female. Number of risk factors among females was significantly higher than males (1.53 vs 1.2, p = 0.003). Females had significantly more constipation, GERD, and asthma and lower BMI than males. Family history of hernias was similar between both sexes. As expected, females had significantly less direct hernias (12.9% vs 32.9%, p < 0.001) and more femoral hernias (38.5% vs 12.2%, p < 0.001) than males. Bilaterality was similar. Females undergoing inguinal hernia repair averaged 1.23 prior deliveries. Regression analysis showed age, sex, BMI, and number of deliveries were not correlated with the number of defects.ConclusionsFemales undergoing primary inguinal hernia repair had more preoperative risk factors for inguinal hernia than males. In our population, there was no higher incidence of bilaterality or significant genetic predisposition in females as noted by family history of hernias. Age, sex, BMI and number of deliveries did not correlate with the number of hernia defects found. Our study promotes awareness of inguinal hernias in females and presents new data to quantify sex-based differences and predispositions to inguinal hernias.

This systematic review aims to identify genetic and biologic markers associated with abdominal hernia formation. Following PRIMSA-guidelines, we searched PubMed, MEDLINE, Embase, Scopus, and COCHRANE databases. Of 5946 studies, 65 were selected, excluding parastomal hernias due to insufficient data. For inguinal hernias, five studies unveiled 92 susceptible loci across 66 genes, predominantly linked to immune responses. Eleven studies observed elevated MMP-2 levels, with seven highlighting greater MMP-2 in direct compared to indirect inguinal hernias. One incisional hernia study identified unique gene-expression profiles in 174 genes associated with inflammation and cell-adhesion. In hiatal hernias, several genetic risk loci were identified. For all hernia categories, type I/III collagen ratios diminished. Biological markers in inguinal hernias appears consistent. Yet, the genetic predisposition in incisional hernias remains elusive. Further research to elucidate these genetic and biological intricacies can pave the way for more individualized patient care. •Elevated MMP-2 linked to inguinal hernia pathogenesis nuances.•Collagen type I/III ratio decrease suggests remodeling roles.•Genetic studies reveal multiple loci, potential immune system link.•Gene regulation's influence on inguinal hernias highlighted.•Incisional hernia studies suggest genetic predisposition, intervention targets.

Fibrosis of the lower abdominal muscle (LAM) contributes to muscle weakening and inguinal hernia formation, an ailment that affects a noteworthy 50% of men by age 75 and necessitates surgical correction as the singular therapy. Despite its prevalence, the mechanisms driving LAM fibrosis and hernia development remain poorly understood. Using a humanized mouse model that replicates the elevated skeletal muscle tissue estrogen concentrations seen in aging men, we identified estrogen receptor-α (ESR1) as a key driver of LAM fibroblast proliferation, extracellular matrix deposition, and hernia formation. Fibroblast-specific ESR1 ablation effectively prevented muscle fibrosis and herniation, while pharmacological ESR1 inhibition with fulvestrant reversed hernias and restored normal muscle architecture. Multiomics analyses of in vitro LAM fibroblasts from humanized mice unveiled an estrogen/ESR1-mediated activation of a distinct profibrotic cistrome and gene expression signature, concordant with observations in inguinal hernia tissues in human males. Our findings hold significant promise for prospective medical interventions targeting fibrotic conditions and present non-surgical avenues for addressing inguinal hernias.

Purpose The aim of this systematic review was to assess the inheritance of groin hernias. Methods The primary outcome was to assess the inheritance based on the family history of groin hernias. We included studies that reported family history in patients with groin hernias, assessed the development of groin hernias in patients with a positive family history, or assessed the development of groin hernias in twins. Searches were conducted in PubMed, EMBASE, and Cochrane CENTRAL in November 2021. Results were synthesized narratively and with meta-analyses. Results Twenty-two studies with unique participants were included. While two twin studies did not show convincing results of a genetic origin in children, database studies with low risk of bias showed that a positive history in parents or siblings increased the risk of inguinal hernia in children, and the risk was highest between mothers and daughters and between sisters. In adults, patients with inguinal hernia had higher odds of having a positive family history compared with patients without groin hernia (odds ratio 5.3, 95% confidence interval 3.3–8.7), and a nationwide study found the highest risk of inguinal hernia repair when a sister had been repaired compared with a brother. This study also found that having a sibling repaired for a groin hernia increased the risk of femoral hernia repair. Conclusion Despite studies being heterogeneous, there is overwhelming evidence that a positive family history is a risk factor for developing inguinal hernia in both children and adults, seemingly with a pronounced female–female inheritance pattern.

Observational studies have suggested links between standing height, BMI, body fat percentage, and inguinal hernia risk, but with inconsistent results. We conducted Mendelian randomization (MR) method to investigate their causal relationships. Independent SNPs associated with standing height, BMI, and body fat percentage were extracted from GWAS data as instrumental variables (IVs). Two-sample MR initially explored causal relationships between these factors and inguinal hernia risk. Multivariable Mendelian randomization (MVMR) assessed the direct causal effects of exposures on inguinal hernia. Positive findings from the MVMR analysis were independently validated. The inverse-variance weighted Methods (IVW), weighted median(WM), and MR-Egger were used for the MR estimates. Sensitivity analyses were used to examine the stability and reliability of the results. Two-sample MR analysis revealed a suggestive causal association between height and inguinal hernia (OR = 1.091, 95% CI = 1.003–1.186, P  = 0.042). BMI (OR = 0.846, 95% CI = 0.774–0.924, P  < 0.001) and body fat percentage (OR = 0.793, 95% CI = 0.690–0.911, P  = 0.001) were significantly protective factors. After MVMR adjustment, BMI (OR = 0.746,95%CI = 0.638–0.872, P  < 0.001) remained protective. Independent validation yielded consistent result. Genetically predicted BMI is a significant protective factor for inguinal hernia, providing valuable guidance for individualized prevention strategies.

Hernias are characterized by protrusion of an organ or tissue through its surrounding cavity and often require surgical repair. In this study we identify 65,492 cases for five hernia types in the UK Biobank and perform genome-wide association study scans for these five types and two combined groups. Our results show associated variants in all scans. Inguinal hernia has the most associations and we conduct a follow-up study with 23,803 additional cases from four study groups giving 84 independently associated variants. Identified variants from all scans are collapsed into 81 independent loci. Further testing shows that 26 loci are associated with more than one hernia type, suggesting substantial overlap between the underlying genetic mechanisms. Pathway analyses identify several genes with a strong link to collagen and/or elastin ( ADAMTS6 , ADAMTS16 , ADAMTSL3 , LOX , ELN ) in the vicinity of associated loci for inguinal hernia, which substantiates an essential role of connective tissue morphology. Hernias involve protrusion of an organ or tissue through its surrounding cavity. Here the authors carry out GWAS for five types of hernia and find 81 variants, most of which are associated with inguinal hernia; downstream analysis suggests an important role for connective tissue morphology.

Background Testicular descent is a physiological process regulated by many factors. Eventually, disturbances in the embryological/fetal development path facilitate the occurrence of scrotal hernia, a congenital malformation characterized by the presence of intestinal portions within the scrotal sac due to the abnormal expansion of the inguinal ring. In pigs, some genes have been related to this anomaly, but the genetic mechanisms involved remain unclear. This study aimed to investigate the expression profile of a set of genes potentially involved with the manifestation of scrotal hernia in the inguinal ring tissue. Methods and results Tissue samples from the inguinal ring/canal of normal and scrotal hernia-affected male pigs with approximately 30 days of age were used. Relative expression analysis was performed using qPCR to confirm the expression profile of 17 candidate genes previously identified in an RNA-Seq study. Among them, the Myosin heavy chain 1 ( MYH1 ), Desmin ( DES ), and Troponin 1 ( TNNI1 ) genes were differentially expressed between groups and had reduced levels of expression in the affected animals. These genes encode proteins involved in the formation of muscle tissue, which seems to be important for increasing the resistance of the inguinal ring to the abdominal pressure, which is essential to avoid the occurrence of scrotal hernia. Conclusions The downregulation of muscular candidate genes in the inguinal tissue clarifies the genetic mechanisms involved with this anomaly in its primary site, providing useful information for developing strategies to control this malformation in pigs and other mammals.

Inguinal hernias are the most common type of enterocele and are frequently caused by defects in the abdominal wall muscles in the groin area. Numerous animal models and human studies have shown that the gut microbiota is associated with skeletal muscle aging and loss. However, the causation between the gut microbiota and inguinal hernia remains unclear. To reveal the causal association between the gut microbiota and inguinal hernia, we conducted a two-sample double-sided Mendelian randomization analysis. We used genome-wide association analysis (GWAS) summary statistics of the gut microbiota from the MiBioGen consortium and GWAS statistics of inguinal hernia from the FinnGen R10 database. The causation between the gut microbiota and inguinal hernia was explored through the inverse variance weighted (IVW) method, MR Egger regression method, weighted median method, weighted model method, and simple model method. Sensitivity analysis was used to test whether the Mendelian randomization analysis results were reliable. Reverse Mendelian randomization was used to conduct effect analysis and sensitivity analysis using the entire gut microbiota as the outcome. The IVW results indicated that Verrucomicrobia, Lactobacilliales, Clostridiaceae1, Butyricococcus, Categorybacter, Hungatella, Odoribacter, and Olsenella had a direct negative causation with the gut microbiota. The reverse Mendelian Randomization results showed that Eubacterium brachygroup, Eubacterium eligensgroup, Eubacterium xylanophilumgroup, Coprococcus3, Ruminococcus1, and Senegalimassilia were directly related to inguinal hernia. The bilateral sensitivity analysis revealed no heterogeneity or horizontal pleiotropy. The results confirmed that 8 bacterial traits had a negative causation with inguinal hernia. Reverse MR analysis revealed a positive correlation between inguinal hernia and 6 bacterial traits. Modulating the diversity and components of the gut microbiota is envisaged to contribute to improving the incidence and prognosis of inguinal hernia.

Inguinal hernia repair is one of the most commonly performed operations in the world, yet little is known about the genetic mechanisms that predispose individuals to develop inguinal hernias. We perform a genome-wide association analysis of surgically confirmed inguinal hernias in 72,805 subjects (5,295 cases and 67,510 controls) and confirm top associations in an independent cohort of 92,444 subjects with self-reported hernia repair surgeries (9,701 cases and 82,743 controls). We identify four novel inguinal hernia susceptibility loci in the regions of EFEMP1 , WT1 , EBF2 and ADAMTS6 . Moreover, we observe expression of all four genes in mouse connective tissue and network analyses show an important role for two of these genes ( EFEMP1 and WT1 ) in connective tissue maintenance/homoeostasis. Our findings provide insight into the aetiology of hernia development and highlight genetic pathways for studies of hernia development and its treatment. Inguinal hernia has high lifetime prevalence, especially in men. This genome-wide association study identifies 4 loci to be associated with inguinal hernia, and shows expression of nearby genes in mouse connective tissues.

Background Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutation in the ELN gene is reported. Case presentation We report a 1-year-old boy who presented with exercise intolerance, weight growth restriction with age, a 1-year history of heart murmur, and inguinal hernia. Gene sequencing revealed a novel nonsense mutation in the ELN gene (c.757 C > T (p.Gln253Ter), NM_000501.4). Due to severe branch pulmonary artery stenosis, the reconstruction of the branch pulmonary artery with autologous pericardium was performed. The inguinal hernia repair was performed 3 months postoperatively. After six months of outpatient follow-up, the child recovered well, gained weight with age, and had no special clinical symptoms. Conclusion We identified a de novo nonsense mutation in the ELN gene leading to mild SVAS and severe branch pulmonary artery stenosis. A new phenotype of inguinal hernia was also needed to be considered for possible association with the ELN gene. Still, further confirmation will be necessary.