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A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia

Author

Listed:
  • Eric Jorgenson

    (Kaiser Permanente Northern California)

  • Nadja Makki

    (UCSF
    Institute for Human Genetics, UCSF)

  • Ling Shen

    (Kaiser Permanente Northern California)

  • David C. Chen

    (Lichtenstein Amid Hernia Clinic, David Geffen School of Medicine at University of California Los Angeles)

  • Chao Tian

    (23andMe Inc. 899 W. Evelyn Avenue)

  • Walter L. Eckalbar

    (UCSF
    Institute for Human Genetics, UCSF)

  • David Hinds

    (23andMe Inc. 899 W. Evelyn Avenue)

  • Nadav Ahituv

    (UCSF
    Institute for Human Genetics, UCSF)

  • Andrew Avins

    (Kaiser Permanente Northern California)

Abstract

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.

Suggested Citation

  • Eric Jorgenson & Nadja Makki & Ling Shen & David C. Chen & Chao Tian & Walter L. Eckalbar & David Hinds & Nadav Ahituv & Andrew Avins, 2015. "A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia," Nature Communications, Nature, vol. 6(1), pages 1-9, December.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms10130
    DOI: 10.1038/ncomms10130
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    Cited by:

    1. Waheed-Ul-Rahman Ahmed & Sam Kleeman & Michael Ng & Wei Wang & Adam Auton & Regent Lee & Ashok Handa & Krina T. Zondervan & Akira Wiberg & Dominic Furniss, 2022. "Genome-wide association analysis and replication in 810,625 individuals with varicose veins," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
    2. Thomas R Roos & Andrew K Roos & Andrew L Avins & Marwa A Ahmed & John P Kleimeyer & Michael Fredericson & John P A Ioannidis & Jason L Dragoo & Stuart K Kim, 2017. "Genome-wide association study identifies a locus associated with rotator cuff injury," PLOS ONE, Public Library of Science, vol. 12(12), pages 1-15, December.
    3. Stuart K Kim & Thomas R Roos & Andrew K Roos & John P Kleimeyer & Marwa A Ahmed & Gabrielle T Goodlin & Michael Fredericson & John P A Ioannidis & Andrew L Avins & Jason L Dragoo, 2017. "Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy," PLOS ONE, Public Library of Science, vol. 12(3), pages 1-16, March.

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