Genetic Polymorphisms of Transforming Growth Factor Receptors (TGF-βRI, TGF-βRII) and Risk Factors Associated with Keloid Scars in Burkina Faso: A Cross-Sectional Study

Abstract

Background: The keloids scar is a skin scarring pathology with a higher frequency in the black population. Several genetic polymorphisms, including those of transforming growth factor receptors, have been identified as probable susceptibility genes. This study aimed to characterize the polymorphisms of TGF-βRI, TGF-βRII and identify risk factors associated with keloid scars in Burkina Faso. Methods: This was a cross-sectional study that included 141 subjects with keloids and conducted from April 2021 to April 2022. Genomic DNA was extracted using the “PureLink TM Genomic DNA Mini kit”. Genotyping of TGF-βRI rs111854391, rs121918710, and TGF-βRII rs104893807, rs28934568 polymorphisms was performed using real-time PCR. Results were considered statistically significant at p< 0.05. Results: The average age of the study population was 34 ± 15 years and O Rhesus positive blood group (O+) was predominant (36.88%). All subjects (100%) were heterozygous (TG) for rs121918710. Medical or surgical history, family history, blood type, and rs28934568 polymorphism were related to the number of sites of keloids on the body. Patients with a medical history (9.8%) were carriers of the mutant allele C for rs28934568. Mossi ethnic had more than 8 times risk of developing a keloid scar (p=0.030; OR=8.66 (95% CI: 1.230– 60.902). Conclusion: The presence in all the patients of the mutated allele for the rs 121918710 polymorphism could explain the involvement of this mutation in the occurrence of keloid scars. In addition, ethnicity and blood type were the risk factors associated with keloids. Keywords: keloids, transforming growth factors, polymorphisms, alleles, Burkina Faso