Role of hTERT rs2736100 in pathological scarring

• Published in: Experimental and therapeutic medicine Vol. 23; no. 4
• Main Authors: Ilies, Roxana Flavia, Halmagyi, Salomea-Ruth, Catana, Andreea, Aioanei, Casian Simon, Lukacs, Istvan, Tokes, Reka- Eniko, Rotar, Ioana Cristina, Pop, Ioan Victor
• Format: Journal Article
• Language: English
• Published: Athens Spandidos Publications 01-04-2022; Spandidos Publications UK Ltd; D.A. Spandidos
• Subjects: Cicatrices; Comparative analysis; Development and progression; Family medical history; Fibroblasts; Genetic aspects; Genotype & phenotype; Health aspects; Inflammation; Overweight; Patients; Physiology; Risk factors; Scars; Single nucleotide polymorphisms; Software; Telomerase; White people; Wound healing; Romania
• ISSN: 1792-0981; 1792-1015
• DOI: 10.3892/etm.2022.11186

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/[m.sup.2] 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. Key words: hTERT, single nucleotide polymorphism, hypertrophic scar, atrophic scar, RT-PCR