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

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dc.contributor.authorSezer, S.
dc.contributor.authorSimsek, N.
dc.contributor.authorCelik, H. T.
dc.contributor.authorErden, G.
dc.contributor.authorOzturk, G.
dc.contributor.authorDuzgun, A. P.
dc.contributor.authorCoskun, F.
dc.date.accessioned2025-10-24T18:08:49Z
dc.date.available2025-10-24T18:08:49Z
dc.date.issued2014
dc.departmentMalatya Turgut Özal Üniversitesi
dc.description.abstractA 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. 85 participants with surgically diagnosed inguinal hernia disease, and 82 physically active controls without any history of connective tissue disease and hernia were recruited for this case-control genetic association study. Polymerase chain reaction and restriction fragment length polymorphism and agarose gel electrophoresis techniques were used to detect these polymorphisms. Significantly, more patients gave a positive family history for an inguinal hernia compared to healthy controls (OR 3.646, 95 % CI 1.375-9.670, P = 0.006). COL1A1 Sp1 SNP (rs 1800012) was identified. Results demostrated statistically significant deviation from HWE for cases (P = 0.007), but not for the controls (P = 0.276). Our results revealed an increased frequency of COL1A1 Sp1 Ss genotype in inguinal hernia patients (OR 3.593, 95 % CI 1.867-6.915, P = 0.000). This results suggest that polymorphism of the COL1A1 Sp1 binding site is associated with an increased risk for developing inguinal hernias. So, rs 1800012 locus is a potential candidate region for susceptibility in molecular mechanism of inguinal hernia pathophysiology.
dc.description.sponsorshipAnkara Numune Education and Research Hospital, Research Foundation [129/2011]; Institute for Evaluation of Labour Market and Education Policy (IFAU) [129/2011] Funding Source: Institute for Evaluation of Labour Market and Education Policy (IFAU)
dc.description.sponsorshipThis study was supported by a Grant from the Ankara Numune Education and Research Hospital, Research Foundation (project 129/2011). We thank BM R&D Molecular Biology Laboratory (Ankara, Turkey) for the technical support provided.
dc.identifier.doi10.1007/s10029-013-1147-y
dc.identifier.endpage512
dc.identifier.issn1265-4906
dc.identifier.issn1248-9204
dc.identifier.issue4
dc.identifier.pmid23925543
dc.identifier.scopus2-s2.0-84905079226
dc.identifier.scopusqualityQ1
dc.identifier.startpage507
dc.identifier.urihttps://doi.org/10.1007/s10029-013-1147-y
dc.identifier.urihttps://hdl.handle.net/20.500.12899/3324
dc.identifier.volume18
dc.identifier.wosWOS:000339876400009
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofHernia
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_20251023
dc.subjectPolymorphism; Inguinal hernia; Collagen type I, alpha 1 chain; PCR
dc.titleAssociation of collagen type I alpha 1 gene polymorphism with inguinal hernia
dc.typeArticle

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