Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

Jannot, Anne‐Sophie; Meziani, Roubila; Bertrand, Guylène; Gérard, Bénédicte; Descamps, V.; Archimbaud, Alain; Picard, Catherine; Ollivaud, L.; Basset-Séguin, Nicole; Kérob, Delphine; Lanternier, Guy; Lebbe, Célèste; Saïag, Philippe; Crickx, B; Clerget‐Darpoux, Françoise; Grandchamp, Bernard; Soufir, Nadem; Melan-Cohort,

doi:10.1038/sj.ejhg.5201415

Cited by 88 publications

(69 citation statements)

References 40 publications

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“…There is still controversy concerning the role of the second exonic variant, 305Trp (rs1800401), in determination of eye colour. Some population studies revealed association of this allele with darker eye colours Frudakis et al 2003;Jannot et al 2005), but others disagree with that finding (Duffy et al 2007). Our data are inconclusive in this matter.…”

Section: Discussioncontrasting

confidence: 55%

Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

Branicki

Brudnik

Kupiec

et al. 2007

Annals of Human Genetics

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SummaryA number of genes are considered to affect normal variation in human pigmentation. Recent studies have indicated that OCA2 is the crucial gene involved in the high variation of iris colour present among populations of European descent. In this study, eleven polymorphisms of the OCA2 gene were examined in search of their association with different pigment traits. The evolutionary tree scanning method indicated that the strongest phenotypic eye colour variation is associated with the branch defined by nonsynonymous change rs1800407, which refers to amino acid causing change Arg419Gln located in exon 13. Single SNP analysis indicated that allele 419Gln is associated with green/hazel iris colour (p < 0.001). According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour.

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Section: Discussioncontrasting

confidence: 55%

Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

Branicki

Brudnik

Kupiec

et al. 2007

Annals of Human Genetics

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“…However, a high incidence of basal cell carcinoma and malignant melanoma has also been described in these patients [2]. Particularly some genes involved in OCA onset have been also found to be involved in melanoma susceptibility in the general population [4]. …”

Section: Discussionmentioning

confidence: 99%

Dermoscopy of Melanocytic Lesions in Patients Affected by Oculocutaneous Albinism: A Case Series

Caldarola¹,

Fania²,

Fossati³

et al. 2013

Dermatology

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Background: Although the majority of skin cancers in albino patients consists of squamous and basal cell carcinomas, malignant melanomas have also been described, albeit less frequently. Objective: The aim of our study was to evaluate melanocytic lesions in albino patients to look for any recurrent dermoscopic pattern. Methods: We enrolled 12 consecutive albino patients presenting to our department and examined each patient for the presence of melanocytic nevi with the unaided eye and then with dermoscopy. Melanocytic lesions with suspicious clinical or dermoscopic features were excised and histopathologically evaluated. Results: Analysis of the recorded images permitted us to find two main dermoscopic patterns in this group of patients. The first one was represented by a homogeneous light-brown yellowish pattern associated with comma-like and dotted vessels; the second one consisted of a classical brown reticular pattern frequently associated with central depigmentation and with comma-like vessels. Moreover, based on some atypical dermoscopic features, in 2 patients we excised 3 melanomas in situ (in the same patient) and a thick melanoma (3.2 mm). Conclusions: Dermoscopy may represent a useful tool for the evaluation of melanocytic lesions in albino patients, permitting an early diagnosis of melanoma.

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“…Two other pigmentation-related genes, ASP (MIM] 600201) and OCA2 (MIM] 611409) have emerged as possible contributors to MM predisposition [Duffy et al, 2004;Jannot et al, 2005;Landi et al, 2005], but these findings require replication in independent studies. The agouti-signaling protein gene (ASP; MIM] 600201) encodes the inverse agonist of MC1R.…”

Section: Introductionmentioning

confidence: 96%

SLC45A2: a novel malignant melanoma-associated gene

et al. 2008

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Human pigmentation appears to be one of the strongest risk factors for malignant melanoma (MM). In humans, there is a long list of genes known to be involved in rare pigmentary disorders such as albinism. These genes explain most of the variation in pigmentation phenotypes seen in human populations, and they do this by regulating the level of synthesis, chemical composition, packaging, and distribution of melanin. This Spanish case-control study included 131 consecutive melanoma patients and 245 control subjects frequency-matched for sex and age. A total of 23 SNPs in six candidate genes (ASP, OCA2, TYR, TYRP1, SILV, and SLC45A) belonging to the pigmentation pathway were genotyped. We found that the variant allele of c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 (membrane associated transporter previously known as MATP) was associated with protection from MM (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing). This association was validated by the consistent link observed with dark hair, dark skin, dark eye color, and the presence of solar lentigins and childhood sunburns. This is the first time SLC45A2 has been described as a melanoma susceptibility gene in a light-skinned population.

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Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

Cited by 88 publications

References 40 publications

Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

Dermoscopy of Melanocytic Lesions in Patients Affected by Oculocutaneous Albinism: A Case Series

SLC45A2: a novel malignant melanoma-associated gene

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