Association of collagen type I alpha 1 gene polymorphism with inguinal hernia

  title={Association of collagen type I alpha 1 gene polymorphism with inguinal hernia},
  author={Saime Sezer and N. Şimşek and Havva Tuğba Çelik and Gonul Erden and Gokhan Ozturk and Arife Polat D{\"u}zg{\"u}n and Faruk Coşkun and Kadir Aras Demircan},
AbstractPurpose A positive family history is an important risk factor for inguinal hernia development, suggesting a genetic trait for hernia disease. However, gene mutations responsible for abdominal wall hernia formation in humans have not yet been studied. We aimed to evaluate whether the functional Sp1 binding site polymorphism within intron 1 of the collagen type I, alpha 1 (COL1A1) gene was associated specifically with inguinal hernia disease.Methods85 participants with surgically… 

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

Insight into the aetiology of hernia development is provided and genetic pathways for studies of hernian development and its treatment are highlighted.

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

A genome-wide association analysis of surgically confirmed inguinal hernias in 72,805 subjects and top associations are confirmed in an independent cohort of 92,444 subjects with self-reported hernia repair surgeries, providing insight into the aetiology of hernia development and highlighting genetic pathways for studies of hernian development and its treatment.

The polymorphism of type 1 collagen (COL1A1) gene does not correlate with an increased risk of foot ulcers in patients with diabetes mellitus.

  • G. TamagnoK. Fedtke P. Kann
  • Medicine, Biology
    Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
  • 2015
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The TT genotype of the COL1A1 Sp1 binding site polymorphism was significantly under-represented in South African participants with ACL ruptures, proposing that this sequence variant be the first specific genetic element to be included in multifactorial models developed to understand the aetiology and risk factors for ACL rupture.

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