Mark Martin Iles

A large-scale genome-wide association meta-analysis for nevus count provides direct insights into the genetics of melanoma

This study conducts a large-scale GWAS meta-analysis of nevus count, identifying 29 new loci and highlighting immune-related pathways relevant to melanoma risk.

Integrative screening identifies functional variants and VNTRs underlying GWAS signals at the 5p15.33 multi-cancer susceptibility locus

The paper identifies functional variants and VNTRs at the 5p15.33 locus using fine-mapping, MPRA, and CRISPRi screens, revealing their role in cancer susceptibility through antagonistic pleiotropy.

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as modulating risk for melanoma and nevi via RAS activation

This study identifies RAPGEF1 as a gene modulating melanoma and nevi risk through RAS activation, using fine-mapping, expression data, and functional assays.

Functional characterization of a multi-cancer risk locus on chromosome band 2q33.1 near CASP8

The paper identifies rs3769823 as a functional variant near CASP8 influencing its expression in a cell-type specific manner and associated with multiple cancers.

Integrating 12 Spatial and Single Cell Technologies to Characterise Tumour Neighbourhoods and Cellular Interactions in three Skin Cancer Types

The paper integrates 12 spatial and single-cell technologies to analyze cellular interactions and signatures in three skin cancers, identifying key therapeutic targets and genetic associations.

Mapping chromatin interactions at melanoma susceptibility loci and cell-type specific dataset integration uncovers distant gene targets of cis-regulation

The paper identifies candidate causal variants and genes at melanoma risk loci using capture-HiC and integrates multi-omics data to prioritize cis-regulatory interactions.

Exploration of the circulating human secretome through protein quantitative trait analysis identifies an association between circulating levels of apolipoprotein L1 and risk of giant cell arteritis

This paper identifies a protective association between apolipoprotein L1 polygenic risk scores and reduced risk of giant cell arteritis, supported by Mendelian randomization and pathway analysis.

Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort

The paper analyzes POT1 variants in a melanoma case-control cohort, finding that pathogenic variants are a minor contributor to melanoma risk but should be screened in high-risk individuals.

Fine-scale population structure and demographic history of British Pakistanis

This study examines the population structure and demographic history of British Pakistanis, revealing strong recent structure and low effective population sizes due to endogamy and consanguinity.

A UVB-responsive common variant at chr7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor gene (AHR)

This paper identifies rs117132860 as a functional variant at 7p21.1 that regulates AHR expression in response to UVB, contributing to melanoma risk and tanning ability.

Cell type-specific meQTL extends melanoma GWAS annotation beyond eQTL and informs melanocyte gene regulatory mechanisms

The paper identifies cell-type-specific meQTLs in melanocytes and melanomas, enhancing GWAS annotation and revealing regulatory mechanisms involving IRF4.

Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers

This study assesses polygenicity and risk prediction using common variants across 14 cancers, finding varying numbers of susceptibility variants and risk score effectiveness.

Massively parallel reporter assays combined with cell-type specific eQTL informed multiple melanoma loci and identified a pleiotropic function of HIV-1 restriction gene, MX2, in melanoma promotion

The paper identifies multiple melanoma susceptibility genes and variants by integrating MPRA with eQTL data, revealing MX2's role in melanoma promotion.

Overlapping Genetic Architecture between Parkinson Disease and Melanoma

This study identifies a significant genetic correlation between Parkinson disease and melanoma, highlighting shared genes and pathways.

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

Cell-type specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes

The paper identifies cell-type specific eQTLs in primary melanocytes, revealing novel melanoma susceptibility genes and associations with GWAS loci.