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Genome-Wide Association Study Suggests the Variant rs7551288*A within the DHCR24 Gene Is Associated with Poor Overall Survival in Melanoma Patients.

Authors :
Pflugfelder A
Yong XLH
Jagirdar K
Eigentler TK
Soyer HP
Sturm RA
Flatz L
Duffy DL
Source :
Cancers [Cancers (Basel)] 2022 May 13; Vol. 14 (10). Date of Electronic Publication: 2022 May 13.
Publication Year :
2022

Abstract

Melanoma incidence rates are high among individuals with fair skin and multiple naevi. Established prognostic factors are tumour specific, and less is known about prognostic host factors. A total of 556 stage I to stage IV melanoma patients from Germany with phenotypic and disease-specific data were analysed; 64 of these patients died of melanoma after a median follow-up time of 8 years. Germline DNA was assessed by the HumanCoreExome BeadChip and data of 356,384 common polymorphisms distributed over all 23 chromosomes were used for a genome-wide analysis. A suggestive genome-wide significant association of the intronic allele rs7551288*A with diminished melanoma-specific survival was detected ( p = 2 × 10 <superscript>-6</superscript> ). The frequency of rs7551288*A was 0.43 and was not associated with melanoma risk, hair and eye colour, tanning and total naevus count. Cox regression multivariate analyses revealed a 5.31-fold increased risk of melanoma-specific death for patients with the rs7551288 A/A genotype, independent of tumour thickness, ulceration and stage of disease at diagnoses. The variant rs7551288 belongs to the DHCR24 gene, which encodes Seladin-1, an enzyme involved in the biosynthesis of cholesterol. Further investigations are needed to confirm this genetic variant as a novel prognostic biomarker and to explore whether specific treatment strategies for melanoma patients might be derived from it.

Details

Language :
English
ISSN :
2072-6694
Volume :
14
Issue :
10
Database :
MEDLINE
Journal :
Cancers
Publication Type :
Academic Journal
Accession number :
35626014
Full Text :
https://doi.org/10.3390/cancers14102410