Pigmentation phototype and prostate and breast cancer in a select Spanish population—A Mendelian randomization analysis in the MCC-Spain study

Gómez‐Acebo, Inés; Dierssen-Sotos, Trinidad; Palazuelos, Camilo; Fernández-Navarro, Pablo; Castaño‐Vinyals, Gemma; Alonso-Molero, Jéssica; Urtiaga, Carmen; Fernández‐Villa, Tania; Ardanáz, Eva; Fresno, Manuel Rivas del; Molina-Barceló, Ana; Jiménez-Moleón, José Juan; García-Martínez, Lidia; Amiano, Pilar; Rodríguez-Cundín, Paz; Pérez‐Gómez, Beatriz; Aragonés, Núria; Kogevinas, Manolis; Pollán, Marina; Llorca, Javier

doi:10.1371/journal.pone.0201750

Cited by 4 publications

(1 citation statement)

References 47 publications

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“…Specifically, a non-synonymous variant in the third exon of this gene (rs1426654), explains between 25 to 38% of the difference between Europeans and Africans in skin melanin index [19]; IRF4 was associated with skin, hair, and eye pigmentation [20,21] and TYR was associated with eye color type [22,23]. However, most of the comprehensive genetics on Caucasian Ancestry for pigmentary traits are conducted on North European populations [24] or small studies [25,26].…”

Section: Introductionmentioning

confidence: 99%

Skin Phototype and Disease. A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy using PRS in the GCAT Cohort

Farré¹,

Blay²,

Cortés³

et al. 2022

Preprint

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Human pigmentation has been largely associated with different disease prevalence among populations, but most of these studies are observational and inconclusive. Known to be genetically determined, pigmentary traits have been largely studied by GWAS, mostly in Caucasian ancestry cohorts from North Europe, identifying robustly, several loci involved in many of the pigmentary traits. Here, we conduct a detailed analysis of 13 pigmentary-related traits in a South European cohort of Caucasian ancestry (n=20,000). We observed fair phototype strongly associated with non-melanoma skin cancer and other dermatoses and confirmed by PRS-approach the shared genetic basis with skin and eye diseases, such as melanoma (OR=0.95), non-melanoma skin cancer (OR=0.93), basal cell carcinoma (OR=0.97) and darker phototype with vitiligo (OR=1.02), and cataracts (OR=1.04). Detailed genetic analyses revealed 37 risk loci associated with 10 out of 13 analyzed traits, and 16 fine-mapped genes significantly associated with at least two pigmentary traits. Some of them widely reported, such as MC1R, HERC2, OCA2, TYR, TYRP1, SLC45A2, and unveiling three new candidates RP11-1084J3.4, C1QTNF3 and C17orf112, not reported in GWAS Catalog. These results highlight the importance of phototype assessment as a genetic proxy of skin functionality when evaluating disease screening in mixed populations.

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Section: Introductionmentioning

confidence: 99%

Skin Phototype and Disease. A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy using PRS in the GCAT Cohort

Farré¹,

Blay²,

Cortés³

et al. 2022

Preprint

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Clinical features, therapeutic choice and response by phototype in psoriasis: analysis of the French PsoBioTeq cohort

Salle¹,

Tubach

Arlegui

et al. 2023

Clinical and Experimental Dermatology

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Background Little is known about phototype and the response to systemic treatment in psoriasis. Objective To assess the characteristics of psoriasis, the therapeutic choice and its efficacy according to phototype. Methods We included patients from the PsoBioTeq cohort initiating a first biologic. Patients were classified according to their phototype. The evaluation included disease characteristics, choice of the initial biologic and therapeutic response at 12 months based on PASI 90 and DLQI 0/1. Results Of the 1400 patients included, 423 (30.2%), 904 (64.6%) and 73 (5.2%) were in the phototype I-II, III-IV and V-VI groups, respectively. The V-VI group had a higher initial DLQI, more frequently initiated ustekinumab. Patients in the phototype V-VI group maintained the first sequence of biologic as the other phototype groups, even though the proportion of patients reaching the PASI 90 and DLQI 0/1 at 12 months was lower in this group than other groups. Conclusion Patient phototype seems associated with quality of life and choice of the initial biologic in psoriasis. Phototype V-VI group less frequently switched treatments than did the other groups when the response was not efficient.

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Systematic review of Mendelian randomization studies on risk of cancer

Kanellopoulou

Dimopoulou

Kosmidis

et al. 2022

BMC Med

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Background We aimed to map and describe the current state of Mendelian randomization (MR) literature on cancer risk and to identify associations supported by robust evidence. Methods We searched PubMed and Scopus up to 06/10/2020 for MR studies investigating the association of any genetically predicted risk factor with cancer risk. We categorized the reported associations based on a priori designed levels of evidence supporting a causal association into four categories, namely robust, probable, suggestive, and insufficient, based on the significance and concordance of the main MR analysis results and at least one of the MR-Egger, weighed median, MRPRESSO, and multivariable MR analyses. Associations not presenting any of the aforementioned sensitivity analyses were not graded. Results We included 190 publications reporting on 4667 MR analyses. Most analyses (3200; 68.6%) were not accompanied by any of the assessed sensitivity analyses. Of the 1467 evaluable analyses, 87 (5.9%) were supported by robust, 275 (18.7%) by probable, and 89 (6.1%) by suggestive evidence. The most prominent robust associations were observed for anthropometric indices with risk of breast, kidney, and endometrial cancers; circulating telomere length with risk of kidney, lung, osteosarcoma, skin, thyroid, and hematological cancers; sex steroid hormones and risk of breast and endometrial cancer; and lipids with risk of breast, endometrial, and ovarian cancer. Conclusions Despite the large amount of research on genetically predicted risk factors for cancer risk, limited associations are supported by robust evidence for causality. Most associations did not present a MR sensitivity analysis and were thus non-evaluable. Future research should focus on more thorough assessment of sensitivity MR analyses and on more transparent reporting.

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Pigmentation phototype and prostate and breast cancer in a select Spanish population—A Mendelian randomization analysis in the MCC-Spain study

Cited by 4 publications

References 47 publications

Skin Phototype and Disease. A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy using PRS in the GCAT Cohort

Skin Phototype and Disease. A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy using PRS in the GCAT Cohort

Clinical features, therapeutic choice and response by phototype in psoriasis: analysis of the French PsoBioTeq cohort

Systematic review of Mendelian randomization studies on risk of cancer

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