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Kardiochir Torakochirurgia Pol. 2014 Sep;11(3):273-7. doi: 10.5114/kitp.2014.45676. Epub 2014 Sep 28.

Genetic basis of keloid formation in wounds after cardiac surgery.

Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgery

Przemysław Kulawczuk, Norbert Czapla, Agnieszka Bińczak-Kuleta, Krzysztof Safranow, Anna Jaworska-Kulawczuk, Dominika Gajewska, Karolina Agata, Miłosz Brykczyński, Piotr Bargiel

Affiliations

  1. Clinic of Plastic Surgery, Endocrine and General Surgery, Pomeranian Medical University in Szczecin, Poland.
  2. Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University in Szczecin, Poland.
  3. Department of Biochemistry, Department of Biochemistry and Medical Chemistry, Pomeranian Medical University in Szczecin, Poland.
  4. Clinic of Haematology, Pomeranian Medical University in Szczecin, Poland.
  5. Students Research Circle at Clinic of Plastic Surgery, Endocrine and General Surgery, Pomeranian Medical University in Szczecin, Poland.

PMID: 26336434 PMCID: PMC4283882 DOI: 10.5114/kitp.2014.45676

Abstract

Keloid disease is the abnormal formation of scar tissue in genetically predisposed people. Among many genes which may be related to the development of keloids, transforming growth factor β1 (TGF-β1) is one of the most mentioned. It encodes cytokinin, which is responsible for the production of extracellular matrix and takes part in healing. Any abnormalities which arise during synthesis of the protein as a result of polymorphism or gene mutation may be the cause of healing disorders (scarring of the body); thus it is responsible for the development of keloids. The objective of this study is to determine the single nucleotide polymorphism of the gene TGF-β1, at the position -509(rs1800469)509, to compare the obtained results in the form of three different genotypes within the analysed group (keloids) and within the control group (healthy scars), and to analyse the correlation between obtained genotypes and the occurrence of keloid disease. Seventy-three patients after cardiac surgery with scars on their sternums were examined (22 women and 51 men) in the age group from 38 to 84 years. Two groups of patients were distinguished: 37 with keloids and 36 with healthy scars. DNA taken from patients was analysed and polymorphism C(-509)T of the gene TGF-β1 was determined. On the basis of the study it was found that the allele T in the position -509 of the gene TGF-β1 is associated with a lower risk of keloid formation regardless of age and gender.

Keywords: gene mutation; gene polymorphism; keloid disease; keloid scarring

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