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

@article{Sezer2013AssociationOC,
  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},
  journal={Hernia},
  year={2013},
  volume={18},
  pages={507-512}
}
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… 

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References

SHOWING 1-10 OF 22 REFERENCES

Type I collagen and matrix metalloproteinase 1, 3 and 9 gene polymorphisms in the predisposition to pelvic organ prolapse

TLDR
The findings suggest that the polymorphism of metalloproteinases-1 might have a role in mediating susceptibility to pelvic organ prolapse.

Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover.

TLDR
The findings that the COL1A1 gene polymorphism is associated with low BMD and fracture risk are supported, and a possible physiologic effect on total body turnover of type I collagen is suggested.

Sp1 collagen I A1 polymorphism in women with stress urinary incontinence

TLDR
The polymorphic T allele was overrepresented in the SUI patients and is associated with increased prevalence of stress urinary incontinence in postmenopausal women.

The biology of hernia formation.

Genetic risk factors for anterior cruciate ligament ruptures: COL1A1 gene variant

TLDR
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.

A familial tendency for developing inguinal hernias: study of a single family

TLDR
The occurrence of the same type of hernia in more than one family member and the altered biochemical results indicate that the hernias may have resulted from a familial connective tissue disease.

Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α 1 gene

TLDR
A novel G→T polymorphism in a regulatory region of COLIA1 at a recognition site for the transcription factor Sp17 that is significantly related to bone mass and osteoporotic fracture is described.

Hernia — A collagen disease?

TLDR
A disorder of the collagen metabolism is supposed to play a pivotal role in the pathogenesis of primary or recurrent inguinal and incisional hernias and further research on collagen metabolism in these patients should be transposed into optimized surgical repair procedures.

Hip Fracture Risk and Different Gene Polymorphisms in the Turkish Population

TLDR
It is concluded that increasing the number of cases will allow us to evaluate racial differences in femoral hip fracture risk by genotypes by evaluating differences in the IL-6 and OPG genes polymorphisms between the two groups.