Background: TFG encodes a protein which is a conserved regulator of protein secretion and controls the export of materials from the endoplasmic reticulum. There is no paper about functional role of TFG in skin except TFG works as a tumor suppressor ge...
Background: TFG encodes a protein which is a conserved regulator of protein secretion and controls the export of materials from the endoplasmic reticulum. There is no paper about functional role of TFG in skin except TFG works as a tumor suppressor gene in metastatic melanoma. Objectives: We investigated the use of genome-wide association study (GWAS) to explore molecular basis of skin phenotype of wrinkle and the effect of TFG on collagen and matrix metalloproteinase expression in human dermal fibroblasts. Methods: A GWAS was conducted to investigate the genetic factors influencing wrinkle formation in Korean females along with molecular studies of genes in human dermal fibroblasts for functional study in vitro.Results: GWAS identified 24 SNPs that were highly associated with skin wrinkle. Among the genes, we investigated the effect of TFG gene in human dermal fibroblasts. When TFG was overexpressed, COL1A1 and COL1A2 protein level were increased and UVB decreased the expression of COL1A1, COL1A2 and TFG. Conclusion: The results suggest that TFG is a positive regulator on collagen expression in dermal fibroblasts. And our results suggest that genetic variants in the intronic region of TFG could be determinants in the wrinkle formation of Korean females.