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Influence of functional variants Asp312Asn and Lys751Gln of Xeroderma Pigmentosum Group D ( XPD ) and Glutathione S‐transferase Mu 1 ( GSTM 1) and Theta 1 ( GSTT 1) genes on cutaneous melanoma susceptibility and prognosis
Author(s) -
RinckJunior José Augusto,
Torricelli Caroline,
Gomez Gabriela Vilas Bôas,
Oliveira Cristiane,
Moraes Aparecida Machado,
Lourenço Gustavo Jacob,
Lima Carmen Silvia Passos
Publication year - 2019
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/exd.13914
Subject(s) - xeroderma pigmentosum , genotype , null allele , glutathione s transferase , glutathione , genotyping , medicine
We aimed to evaluate whether variants in repair ( XPD Asp312Asn, XPD Lys751Gln) and detoxification ( GSTM 1 , GSTT 1 ) genes alter risk, clinicopathological aspects and survival of cutaneous melanoma ( CM ). Genotyping was performed in 229 CM patients and 258 controls. Individuals with XPD 312Asp/Asn or Asn/Asn plus GSTT 1 null genotype were under 2.00 (95% CI : 1.06‐3.79), and XPD 312Asn/Gln haplotype was under 1.44‐fold (95% CI : 0.99‐2.08) increased risks to CM than others. Individuals with GSTM 1 plus GSTT 1 null genotype had 9.61‐fold (95% CI : 2.28‐40.38) increased risk of metastatic CM . At 60 months of follow‐up, patients with XPD 751Gln/Gln plus GSTT 1 null and GSTM 1 null plus GSTT 1 null genotype presented 7.36 and 3.05 more chances of evolving to death in multivariate Cox analysis, respectively. In conclusion, our data indicate, for the first time, that specific variant combinations of XPD , GSTM 1 and GSTT 1 may increase susceptibility to CM and influence patients’ clinicopathological features and survival.