We found three SNPs in two regions showed significant association with keloid in the Chinese Han population: 1q41 (rs873549, P = 3.03×10(-33), OR = 2.05, 95% CI: 1.82-2.31 and rs1442440, P = 9.85×10(-18), OR = 0.56, 95% CI: 0.49-0.64, respectively) and 15q21.3 (rs2271289 located in NEDD4, P = 1.02×10(-11), OR = 0.66, 95% CI: 0.58-0.74).
Tumour growth pattern (expansive/infiltrative/diffuse) and tumour stroma (desmoplastic common-type versus keloid-like) showed a statistically significant association with tumour cell dissociation and with beta-catenin translocation.
To investigate the etiology of keloids, the polymerase chain reaction sequence-specific primer method was used to analyze the distribution of HLA-DRB1 alleles in 192 patients with keloids and 273 healthy control individuals.
Recent data also suggest that carriers of specific major histocompatibility complex (MHC) alleles, in particular HLA-DRB1*15, HLA-DQA1*0104, DQB1*0501 and DQB1*0503, are at increased risk of developing keloid scarring.
We have demonstrated for the first time that a genetic association exists between HLA-DRB1*15 status and the risk of developing keloid scarring in Caucasians.
Approximately one half of individuals with FMD have no identified mutation in FLNA and are phenotypically very similar to individuals with FLNA mutations, except for an increased tendency to form keloid scars.
To the best of our knowledge, there is only one documented report on a relationship between TGFβ1 and keloidwith no association within the Caucasian population, while there have not been any reports for SMAD4.
We feel that the pathophysiological and epidemiological overlap between keloids and non-diabetic kidney disease support a common genetic origin and further investigation into keloids and the MYH9-APOL1 haplotype and keloids is warranted.
rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.
We feel that the pathophysiological and epidemiological overlap between keloids and non-diabetic kidney disease support a common genetic origin and further investigation into keloids and the MYH9-APOL1 haplotype and keloids is warranted.
rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.
Identification of the CXCR1 gene mutation might provide insights into the molecular mechanism underlying keloid scar and underscores the potential importance of mechanoreceptors in keloid scar pathogenesis.
Mutations of the CDC2L1 gene in keloid and healthy skin tissues were screened by denaturing high-performance liquid chromatography, and confirmed by DNA sequencing analysis.
rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.
rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing.