A study of a single variant allele (rs1426654) of the pigmentation‐related gene SLC24A5 in Greek subjects

Dimisianos, Gerasimos; Stefanaki, Irene; Nicolaou, Vicky; Sypsa, Vana; Antoniou, Christina; Poulou, Myrto; Papadopoulos, Othon; Gogas, Helen; Kanavakis, Emmanouel; Nicolaidou, Electra; Katsambas, Andreas; Stratigos, Alexander J.

doi:10.1111/j.1600-0625.2008.00758.x

Cited by 11 publications

(7 citation statements)

References 18 publications

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“…This SNP also showed association with melanin levels in admixed African Americans and African Caribbeans, where carriers of the AG or GG genotypes had lighter skin than AA carriers did [133]. On the other hand, due to the allele fixation, this SNP is incapable to show any genetic association in Europeans, as was seen in studies using exclusively European samples [19,134]. A world-wide allele frequency map shows rs1426654 being highly polymorphic in South Asians (frequency A = 0.52) [135].…”

Section: Slc24a5mentioning

confidence: 77%

Colorful DNA polymorphisms in humans

Liu

Wen

Kayser

2013

Seminars in Cell & Developmental Biology

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a b s t r a c tIn this review article we summarize current knowledge on how variation on the DNA level influences human pigmentation including color variation of iris, hair, and skin. We review recent progress in the field of human pigmentation genetics by focusing on the genes and DNA polymorphisms discovered to be involved in determining human pigmentation traits, their association with diseases particularly skin cancers, and their power to predict human eye, hair, and skin colors with potential utilization in forensic investigations.

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Section: Slc24a5mentioning

confidence: 77%

Colorful DNA polymorphisms in humans

Liu

Wen

Kayser

2013

Seminars in Cell & Developmental Biology

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“…To derive ancestry information from each individual, a panel of 41 ancestry-informative markers was genotyped, including FY and 36 short tandem repeats markers described in our previous studies,34,35 and augmented by 4 highly ancestry-informative SNPs, rs1540771 (6p23.5), rs1805007 ( MC1R ), rs12896399 ( SLC24A4 ), and rs1426654 ( SLC24A5 ), which are all associated with hair, eye, and/or skin pigmentation 36,37. These ancestry-informative markers were analyzed by a Bayesian cluster model using STRUCTURE software 38-40.…”

Section: Methodsmentioning

confidence: 99%

Interactive Effect of Stressful Life Events and the Serotonin Transporter 5-HTTLPR Genotype on Posttraumatic Stress Disorder Diagnosis in 2 Independent Populations

Xie¹,

Kranzler²,

Poling³

et al. 2009

Arch Gen Psychiatry

222

179

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Context: The 5-HTTLPR polymorphism in the promoter region of the serotonin transporter gene (SLC6A4) has been found to moderate several categories of emotional response after stressful life events. Previous studies generally focused on its effect on depressive symptoms; little is known about its moderation of the development of post-traumatic stress disorder (PTSD). Objective: To examine the effects of childhood adversity, adult traumatic events, 5-HTTLPR genotypes, and gene×environment interactions on the etiology of PTSD. Design: A cross-sectional study in which participants in several studies investigating the genetics of substance dependence were also screened for lifetime PTSD. The triallelic system of 5-HTTLPR was genotyped. Logistic regression modeling was used in the analyses. Setting: General community. Participants: Five hundred eighty-two European American and 670 African American individuals who reported experiences of childhood adversity, adult traumatic events, or both. Main Outcome Measure: Diagnosis of PTSD, defined by DSM-IV diagnostic criteria and assessed through the Semi-Structured Assessment for Drug Dependence and Alcoholism interview. Results: Childhood adversity and adult traumatic events both predicted PTSD. Although the 5-HTTLPR genotype alone did not predict the onset of PTSD, it interacted with adult traumatic events and childhood adversity to increase the risk for PTSD, especially for those with high rates of both types of trauma exposure (European American: odds ratio [OR], 2.86; 95% confidence interval [CI], 1.50-5.45; P=.002; African American: OR, 1.88; 95% CI, 1.04-3.40; P=.04; pooled: OR, 2.31; 95% CI, 1.50-3.56; P<.001). Conclusions: Participants who had both childhood adversity and adult traumatic events were more likely to develop lifetime PTSD compared with those who experienced either type of adverse event. The risk was increased in individuals with 1 or 2 copies of the S′ (S) allele compared with the L′ (L) homozygotes. Our study provides additional direct evidence that PTSD is influenced by the interactive effect of environmental and genetic factors.

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“…SLC24A5 is a gene already known to be involved in skin color determination for some time [29]. Moreover, rs1426654 locus explains per se the difference in skin melanin index between 25 and 38 % amongst people of European vs. West African ancestry, respectively [30][31][32]. Valenzuela et al identified rs1426654 and rs2424984, together with IrisPlex rs16891982, as being responsible for 45.7 % of the reflectance variance and an indicator of skin reflectance in human phenotypes across different populations [28].…”

Section: Introductionmentioning

confidence: 97%

Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese population

et al. 2015

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DNA phenotyping research is one of the most emergent areas of forensic genetics. Predictions of externally visible characteristics are possible through analysis of single nucleotide polymorphisms. These tools can provide police with "intelligence" in cases where there are no obvious suspects and unknown biological samples found at the crime scene do not result in any criminal DNA database hits. IrisPlex, an eye color prediction assay, revealed high prediction rates for blue and brown eye color in European populations. However, this is less predictive in some non-European populations, probably due to admixing. When compared to other European countries, Portugal has a relatively admixed population, resulting from a genetic influx derived from its proximity to and historical relations with numerous African territories. The aim of this work was to evaluate the utility of IrisPlex in the Portuguese population. Furthermore, the possibility of supplementing this multiplex with additional markers to also achieve skin color prediction within this population was evaluated. For that, IrisPlex was augmented with additional SNP loci. Eye and skin color prediction was estimated using the multinomial logistic regression and binomial logistic regression models, respectively. The results demonstrated eye color prediction accuracies of the IrisPlex system of 90 and 60% for brown and blue eye color, respectively, and 77% for intermediate eye color, after allele frequency adjustment. With regard to skin color, it was possible to achieve a prediction accuracy of 93%. In the future, phenotypic determination multiplexes must include additional loci to permit skin color prediction as presented in this study as this can be an advantageous tool for forensic investigation.

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A study of a single variant allele (rs1426654) of the pigmentation‐related gene SLC24A5 in Greek subjects

Cited by 11 publications

References 18 publications

Colorful DNA polymorphisms in humans

Colorful DNA polymorphisms in humans

Interactive Effect of Stressful Life Events and the Serotonin Transporter 5-HTTLPR Genotype on Posttraumatic Stress Disorder Diagnosis in 2 Independent Populations

Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese population

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