Role of hTERT rs2736100 in pathological scarring

Roxana Flavia Ilieș; Salomea-Ruth Halmagyi; Andreea Cătană; Casian Simon Aioanei; Istvan Lukacs; Reka-Eniko Tokes; Ioana Cristina Rotar; Ioan Victor Pop

doi:10.3892/etm.2022.11186

Role of hTERT rs2736100 in pathological scarring

Exp Ther Med. 2022 Apr;23(4):260. doi: 10.3892/etm.2022.11186. Epub 2022 Feb 4.

Authors

Roxana Flavia Ilieș¹, Salomea-Ruth Halmagyi¹, Andreea Cătană^{1

2}, Casian Simon Aioanei¹, Istvan Lukacs³, Reka-Eniko Tokes³, Ioana Cristina Rotar^{3

4}, Ioan Victor Pop¹

Affiliations

¹ Department of Medical Genetics, 'Iuliu Hațieganu' University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
² Department of Oncogenetics, 'Ion Chiricuță' Oncological Institute, 400015 Cluj-Napoca, Romania.
³ 1st Department of Obstetrics and Gynecology, 'Iuliu Hațieganu' University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
⁴ 1st Clinic of Obstetrics and Gynecology, Emergency County Hospital, 400006 Cluj-Napoca, Romania.

Abstract

Hypertrophic and atrophic scars are the effect of a dysregulated wound-healing process in genetically predisposed individuals. The genetic predisposition has acquired significant attention due to the diverse phenotype of pathological scarring in individuals with a positive personal and family history. Recent studies have identified telomere shortening and decreased hTERT activity in pathological scarring, proposing the rs2736100 variant of human telomerase reverse transcriptase (hTERT) gene as a valuable variant gene candidate. We examined the scarring process in 71 female patients who had undergone Caesarean section and developed hypertrophic and atrophic scars with the objective to investigate the role of single nucleotide polymorphism (SNP) rs2736100 in pathological scarring. Genotyping was performed using RT-PCR and follow-up included the Patient Observer Scar Assessment Scale (POSAS) and SCAR scales. Comparative analysis for mean POSAS value between the check-ups at 3 and 6 months revealed a statistical decreased difference of 1.71 points [95% confidence interval (CI), 0.4-2.89; P=0.01], while SCAR highlighted a decreased difference of 0.670 (95% CI, -0.04-1.38; P=0.055). The C variant allele revealed a borderline statistical value for the risk of developing pathological scarring (OR=1.44; 95% CI, 0.876-1.332: P=0.066). In our study a pre-conceptional body mass index (BMI) >25 kg/m² was statistically associated with pathological scarring. The Fitzpatrick type 4 phototype displayed an increased frequency for the heterozygous genotype in the current study, and it was demonstrated that dark skin tone was associated with abnormal scar formation. Our study investigated the role of hTERT gene variant rs2736100 in hypertrophic and atrophic scarring in a Caucasian population group. We report a borderline statistically significant value for the variant C allele of hTERT SNP for the risk of developing pathological scarring in female patients that had undergone Caesarean section.

Keywords: RT-PCR; atrophic scar; hTERT; hypertrophic scar; single nucleotide polymorphism.

Grants and funding

Funding: No funding was received.