A genetically informed study reveals modifiable pathways in skin cancer.

A genetically informed study reveals modifiable pathways in skin cancer.

Publication date: Oct 08, 2024

Identifying modifiable risk factors is essential for the prevention of skin cancer; however, establishing causality can be challenging in conventional epidemiological studies. This study aimed to determine the causal associations of potentially modifiable risk factors with skin cancer using Mendelian randomization (MR). Genetic instruments for 53 risk factors, including socioeconomic status, dietary and lifestyle factors, anthropometric measures, medication use, and comorbidities, were identified from previous genome-wide association studies. Two-sample MR analyses were performed using summary statistics for three major types of skin cancer: melanoma, basal cell carcinoma (BCC), and squamous cell carcinoma (SCC). Findings were verified using multiple MR methods under different assumptions and replication datasets. Genetic liability to sunburn occasions, actinic keratosis, and prior skin cancers was associated with a higher risk of all three types of skin cancer, whereas genetic liability to vitiligo was associated with a lower risk. For specific skin cancer types, genetically predicted higher nevus counts and occupational class were associated with an increased risk of melanoma. Genetic liability to rheumatoid arthritis, type 2 diabetes, and increased physical activity were associated with a lower risk of BCC. Genetically predicated body mass index showed a negative association with BCC, and a positive association with SCC. Our study reaffirmed several previously established risk factors and identified novel potential risk factors for skin cancer. Further work is needed to unravel the biological pathways in different skin cancer types and translate our findings to inform public health policies.

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Concepts Keywords
Cancer Basal cell carcinoma
Genome Carcinoma, Basal Cell
Socioeconomic Carcinoma, Squamous Cell
Sunburn Genome-Wide Association Study
Vitiligo Humans
Melanoma
Melanoma
Mendelian randomization
Mendelian Randomization Analysis
Modifiable factor
Risk Factors
Skin Neoplasms
Squamous cell carcinoma

Semantics

Type Source Name
disease MESH skin cancer
disease MESH causality
disease MESH lifestyle factors
disease MESH melanoma
pathway KEGG Melanoma
disease MESH basal cell carcinoma
pathway KEGG Basal cell carcinoma
disease MESH squamous cell carcinoma
disease MESH actinic keratosis
disease MESH vitiligo
disease MESH nevus
disease MESH rheumatoid arthritis
pathway KEGG Rheumatoid arthritis
disease MESH type 2 diabetes
pathway REACTOME Reproduction
disease MESH carcinoma
disease MESH cancer
drug DRUGBANK Ethanol
disease MESH obesity
disease MESH uncertainty
drug DRUGBANK Ranitidine
drug DRUGBANK Cysteamine
disease MESH noma
disease MESH histocompatibility
drug DRUGBANK Esomeprazole
drug DRUGBANK Cholesterol
drug DRUGBANK Metformin
drug DRUGBANK Beta carotene
drug DRUGBANK Copper
drug DRUGBANK Iron
drug DRUGBANK Lycopene
drug DRUGBANK Selenium
drug DRUGBANK Vitamin A
drug DRUGBANK Cyanocobalamin
drug DRUGBANK Folic Acid
drug DRUGBANK Zinc
disease MESH Atopic dermatitis
drug DRUGBANK Dimercaprol
disease MESH Multiple sclerosis
disease MESH Obstructive sleep apnea
disease MESH Periodontitis
disease MESH Hidradenitis suppurativa
disease MESH Psoriasis
disease MESH Systemic lupus erythematosus
pathway KEGG Systemic lupus erythematosus
drug DRUGBANK Nicotine
pathway REACTOME Vitamins
pathway REACTOME Fatty acids
disease MESH freckles
disease MESH carcinogenesis
disease MESH inflammation
drug DRUGBANK L-Phenylalanine
disease MESH polygenic risk scores
drug DRUGBANK Indoleacetic acid
disease MESH chronic infections
drug DRUGBANK Bismuth subgallate
disease MESH chronic urticaria
disease MESH cutaneous malignant melanoma
drug DRUGBANK Sulpiride
drug DRUGBANK (S)-Des-Me-Ampa
disease MESH metabolic syndrome
disease MESH necrosis
drug DRUGBANK Carboxyamidotriazole

Original Article

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