Loss-of-function mutations in filaggrin gene and malignant melanoma: a case-control study
Research output: Contribution to journal › Letter › Research › peer-review
Standard
Loss-of-function mutations in filaggrin gene and malignant melanoma : a case-control study. / Thyssen, J P; Andersen, Y M F; Balslev, E; Szecsi, P B; Stender, S; Kaae, J; Linneberg, A; Skov, Lone.
In: Journal of the European Academy of Dermatology and Venereology : JEADV, Vol. 32, No. 2, 2018, p. 242-244.Research output: Contribution to journal › Letter › Research › peer-review
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - Loss-of-function mutations in filaggrin gene and malignant melanoma
T2 - a case-control study
AU - Thyssen, J P
AU - Andersen, Y M F
AU - Balslev, E
AU - Szecsi, P B
AU - Stender, S
AU - Kaae, J
AU - Linneberg, A
AU - Skov, Lone
N1 - © 2017 European Academy of Dermatology and Venereology.
PY - 2018
Y1 - 2018
N2 - BACKGROUND: Loss-of-function mutations in filaggrin gene (FLG) have been suggested to increase the susceptibility of skin malignancies due to reduced levels of epidermal filaggrin and its degradation products, urocanic acid, which may be protective against ultraviolet irradiation.OBJECTIVE: We aimed to investigate the association between FLG mutation status and the occurrence of malignant melanoma (MM) in Danish adults.METHODS: The prevalence of FLG mutations in a sample of MM biopsies was compared with a FLG-genotyped cohort from two general population studies. Pearson's chi-squared and Fisher's exact tests were used to compare the two groups.RESULTS: A total of 867 MM biopsies and 9965 general population controls were genotyped, respectively. In the MM sample, two (0.23%) individuals were homozygous and 80 (9.4%) were heterozygous mutation carriers. In the general population controls, the prevalence of FLG mutations was 18 (0.18%) and 835 (8.4%) for homozygous and heterozygous mutations, respectively. Fisher's exact test and Pearson's chi-squared test yielded non-significant P-values when the groups were compared.CONCLUSION: FLG mutation was not associated with MM in the studied populations. This finding indicates that epidermal deficiency of filaggrin and its degradation products does not influence the risk of MM significantly.
AB - BACKGROUND: Loss-of-function mutations in filaggrin gene (FLG) have been suggested to increase the susceptibility of skin malignancies due to reduced levels of epidermal filaggrin and its degradation products, urocanic acid, which may be protective against ultraviolet irradiation.OBJECTIVE: We aimed to investigate the association between FLG mutation status and the occurrence of malignant melanoma (MM) in Danish adults.METHODS: The prevalence of FLG mutations in a sample of MM biopsies was compared with a FLG-genotyped cohort from two general population studies. Pearson's chi-squared and Fisher's exact tests were used to compare the two groups.RESULTS: A total of 867 MM biopsies and 9965 general population controls were genotyped, respectively. In the MM sample, two (0.23%) individuals were homozygous and 80 (9.4%) were heterozygous mutation carriers. In the general population controls, the prevalence of FLG mutations was 18 (0.18%) and 835 (8.4%) for homozygous and heterozygous mutations, respectively. Fisher's exact test and Pearson's chi-squared test yielded non-significant P-values when the groups were compared.CONCLUSION: FLG mutation was not associated with MM in the studied populations. This finding indicates that epidermal deficiency of filaggrin and its degradation products does not influence the risk of MM significantly.
KW - Journal Article
U2 - 10.1111/jdv.14532
DO - 10.1111/jdv.14532
M3 - Letter
C2 - 28833578
VL - 32
SP - 242
EP - 244
JO - Journal of the European Academy of Dermatology and Venereology
JF - Journal of the European Academy of Dermatology and Venereology
SN - 0926-9959
IS - 2
ER -
ID: 185367086