Nuestros ojos pueden ser un buen chivato de posibles enfermedades de la piel. Según una investigación que se publica en Nature Genetics, el color de los ojos puede indicar si una persona tiene en mayor riesgo de sufrir ciertas enfermedades graves de la piel.
El artículo de ABC parece que diga que se han puesto a mirar el color de los ojos de los enfermos y hayan decidido que existe esta relación. En el artículo original, primero estudiaron la genética del vitíligo, y luego, al ver que uno de los principales genes coincidía con uno de los genes que determina el color de ojos, estudiaron el tema de la pigmentación y hallaron dicha correlación:
The replication study and overall meta-analysis confirmed the associations of both rs1129038 (P = 3.80 × 10−8, odds ratio (OR) = 1.22) and rs12913832 (P = 3.81 × 10−8, OR = 1.22) (Table 1). Furthermore, the SNP alleles that are low risk for vitiligo are strongly associated with gray or blue eye color9, 10, 11 and with an elevated risk of malignant melanoma12, 13, tagging a founder variant within HERC2 that downregulates transcription of the OCA2 allele in cis11, 14. OCA2 is thus analogous to TYR: both genes encode melanocyte antigens presented by HLA-A*02 (refs. 15,16), in both genes, vitiligo protection is associated with reduced amounts of functional protein, and for both genes, susceptibility to vitiligo and melanoma constitute genetic opposites7, perhaps modulating immune surveillance for melanoma (Supplementary Fig. 2). Furthermore, we predicted that, among patients with vitiligo, gray or blue eye color should be under-represented, and tan or brown eye color should be over-represented. To test this, we surveyed 1,206 cases of European ancestry and confirmed both predictions: among patients with vitiligo, the prevalence of gray or blue eye color (26.8%) was much lower and the prevalence of tan or brown eye color (43.2%) was much higher compared to American17 (P < 0.0001) and Australian18 (P < 0.0001) individuals of European ancestry (Table 2). Compared to persons with gray or blue eye color, the OR for vitiligo was 2.98 in persons with tan or brown eye color and was 2.25 in persons with green or hazel eye color, indicating that additional eye color genes besides OCA2 constitute risk loci for vitiligo, and, indeed, TYR is associated both with vitiligo3 and with green or hazel eye color.
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El artículo de ABC parece que diga que se han puesto a mirar el color de los ojos de los enfermos y hayan decidido que existe esta relación. En el artículo original, primero estudiaron la genética del vitíligo, y luego, al ver que uno de los principales genes coincidía con uno de los genes que determina el color de ojos, estudiaron el tema de la pigmentación y hallaron dicha correlación:
The replication study and overall meta-analysis confirmed the associations of both rs1129038 (P = 3.80 × 10−8, odds ratio (OR) = 1.22) and rs12913832 (P = 3.81 × 10−8, OR = 1.22) (Table 1). Furthermore, the SNP alleles that are low risk for vitiligo are strongly associated with gray or blue eye color9, 10, 11 and with an elevated risk of malignant melanoma12, 13, tagging a founder variant within HERC2 that downregulates transcription of the OCA2 allele in cis11, 14. OCA2 is thus analogous to TYR: both genes encode melanocyte antigens presented by HLA-A*02 (refs. 15,16), in both genes, vitiligo protection is associated with reduced amounts of functional protein, and for both genes, susceptibility to vitiligo and melanoma constitute genetic opposites7, perhaps modulating immune surveillance for melanoma (Supplementary Fig. 2). Furthermore, we predicted that, among patients with vitiligo, gray or blue eye color should be under-represented, and tan or brown eye color should be over-represented. To test this, we surveyed 1,206 cases of European ancestry and confirmed both predictions: among patients with vitiligo, the prevalence of gray or blue eye color (26.8%) was much lower and the prevalence of tan or brown eye color (43.2%) was much higher compared to American17 (P < 0.0001) and Australian18 (P < 0.0001) individuals of European ancestry (Table 2). Compared to persons with gray or blue eye color, the OR for vitiligo was 2.98 in persons with tan or brown eye color and was 2.25 in persons with green or hazel eye color, indicating that additional eye color genes besides OCA2 constitute risk loci for vitiligo, and, indeed, TYR is associated both with vitiligo3 and with green or hazel eye color.
www.nature.com/ng/journal/vaop/ncurrent/full/ng.2272.html