Evidence map›Paper›PMID 41504506›Full record

ArticleInternational journal of surgery (London, England)2026

Genetic correlations among diaphragmatic, femoral, inguinal, ventral, and umbilical hernias and identification of their candidate genes.

Hekai Shi, Hui Ma, Qijun Li, Junliang Ma, Xiaoyu Peng, Dongchao Yang, Zhicheng Song, Yan Gu

Abstract read
In one paragraph

Article in International journal of surgery (London, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Hekai ShiDepartment of General Surgery, Huadong Hospital, Fudan University, Shanghai, People's Republic of China.ORCID 0000-0003-3350-5382
Hui MaDepartment of General Surgery, Huadong Hospital, Fudan University, Shanghai, People's Republic of China.
Qijun LiDepartment of General Surgery, Huadong Hospital, Fudan University, Shanghai, People's Republic of China.
Junliang MaDepartment of General Surgery, Huadong Hospital, Fudan University, Shanghai, People's Republic of China.
Xiaoyu PengDepartment of General Surgery, Huadong Hospital, Fudan University, Shanghai, People's Republic of China.
Dongchao YangDepartment of General Surgery, Huadong Hospital, Fudan University, Shanghai, People's Republic of China.
Zhicheng SongDepartment of General Surgery, Huadong Hospital, Fudan University, Shanghai, People's Republic of China.
Yan GuDepartment of General Surgery, Huadong Hospital, Fudan University, Shanghai, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveDifferent subtypes of hernia exhibit significant familial aggregation. However, the genetic correlations among different hernia subtypes, as well as their shared and subtype-specific candidate genes still remain unclear.

methodsUsing genome-wide association study (GWAS) data from the FinnGen consortium, we quantified genetic correlations (rg) among diaphragmatic (16 034 cases), inguinal (43 066 cases), femoral (1 660 cases), and hernia of abdominal wall (21 210 cases, including umbilical and ventral hernias) by linkage disequilibrium score regression. Mendelian randomization (MR) analyses were performed using 15 695 expression quantitative trait loci (eQTL) as exposures and hernia GWAS data as outcomes. Multiple testing was controlled using the false discovery rate (q < 0.05), and findings were further prioritized through Bayesian colocalization. Shared candidate genes were validated using fibroblast eQTL data from GTEx V10 and protein quantitative trait loci data from the UK Biobank.

resultsSignificant genetic correlations were observed across all hernia subtypes (P < 0.01), with the strongest correlation between ventral and umbilical hernias (rg = 0.78), while diaphragmatic hernia exhibited weaker correlations with other subtypes (rg = 0.26-0.48). MR analyses using blood and fibroblast-derived eQTL data identified BMP6, MYCBPAP, and ZNF75A as candidate genes shared across multiple hernia subtypes. Proteomic validation further revealed that elevated BMP6 protein levels were associated with a reduced risk for all hernia subtypes.

conclusionThis study reveals a shared genetic basis among common hernia subtypes and identifies three shared candidate genes (BMP6, MYCBPAP, and ZNF75A). Elevated BMP6 protein levels were associated with a reduced risk of multiple hernia types. These findings provide new insights into the genetic correlations and potential pathogenic mechanisms underlying hernia. Future functional studies are needed to elucidate the roles of these genes in abdominal wall tissue.

Indexed as

diaphragmatic herniagenetic correlationinguinal herniaMendelian randomizationventral hernia

Identifiers

PMID41504506
PMCPMC13105615

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.