Exploring iris colour prediction and ancestry inference in admixed populations of South America

Freire-Aradas, Ana; Ruiz, Y.; Phillips, C.; Maroñas, Olalla; Söchtig, Jens; Gómez-Tato, Antonio; Dios, J. Álvarez; Cal, M. Casares de; Silbiger, Vivian Nogueira; Luchessi, Augusto Ducati; Chiurillo, Miguel Ángel; Carracedo, Ángel; Lareu, Marı́a Victoria

doi:10.1016/j.fsigen.2014.06.007

Cited by 35 publications

(29 citation statements)

References 22 publications

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“…To be exact, ancestry inference analysis offers many applications in forensic science: (1) Narrowing investigation scope prior to personal identifications; (2) Accelerating the identification progress of missing persons or disaster victims; (3) Providing investigative clues when lacking of eyewitness testimony or failing to hit the databases. Besides, usage of AIMs is also helpful in studying population structure and exploring the migration and admixture history of a specific population .…”

Section: Introductionmentioning

confidence: 99%

Distinguishing three distinct biogeographic regions with an in‐house developed 39‐AIM‐InDel panel and further admixture proportion estimation for Uyghurs

et al. 2019

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In the forensic field, ancestry‐informative markers (AIMs) showing remarkable allele frequency discrepancies can be useful in deducing the likely ancestral origin of a person or estimating the ancestry component proportions of an admixed population or individual. Diallelic single nucleotide polymorphisms are genetic markers commonly used for ancestry inference, but the genotyping methods of single nucleotide polymorphisms fail to fulfil the demands of cost‐effectiveness and simplicity of experimental manipulation. To overcome the limitations, a 39 ancestry‐informative insertion/deletion polymorphism multiplex panel was developed in the present study to perform ancestry assignment of individuals from three distinct biogeographic regions (Africa, Europe, East Asia). And in the panel design, we also attempted to incorporate AIM‐insertion/deletion polymorphisms exhibiting allelic frequency differences in Han, Uyghur, and Tibetan populations into the multiplex assay, further expecting to provide valuable information for refining ancestry inference within Chinese populations. Statistical analyses were performed to estimate efficiency of this panel in clustering individuals from three continents mentioned above into their corresponding populations, which indicated the potential of the panel in ancestry inference. Besides, we also estimated the ancestral component proportions of Uyghur group and STRUCTURE analysis revealed that Uyghurs from Urumchi city of northern Xinjiang exhibited a distinctly admixed pattern of East Asian and European ancestry components with a ratio of 49:44, reflecting the relatively higher East Asian ancestry component contribution in the gene pool of the Uyghur group.

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Section: Introductionmentioning

confidence: 99%

Distinguishing three distinct biogeographic regions with an in‐house developed 39‐AIM‐InDel panel and further admixture proportion estimation for Uyghurs

et al. 2019

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“…First, our population was small and had few black participants which limits the generalizability of this study. Second, the eGFR alone is relatively insensitive to clinically relevant gradients of risk (Freire-Aradas et al, 2014). In addition, our definition of eGFR was limited to a single measurement of serum creatinine on one occasion, not measured during period ≥ 3 months (Andrew et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

Association between kidney function and Framingham risk score in an admixed population of Brazil

Costa

Freitas

Cruz

et al. 2018

Braz. J. Pharm. Sci.

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Chronic kidney disease (CKD) increases cardiovascular disease (CVD) risk development. However, the mechanisms of reduced kidney function with CVD risk are unclear. This study aimed to investigate the association between kidney function and Framingham risk score (FRS) in participants with traditional cardiovascular risk factors and normal estimated glomerular filtration rate (eGFR) > 60 mL/min/1.73 m² in an admixed population of Brazil. The participants were divided into three groups according to FRS: low risk group with 0% to <10%, moderate risk group with ≥10% to 20% and high risk group with >20%. The eGFR was calculated using Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI). Data from participants were collected by questionnaire, and blood and urine samples were collected to analyze biochemical markers. A total of 214 subjects aged 53±10 years old was collected. There were 77 individuals in low risk group, 59 in moderate risk group and 78 in high-risk group. Mean eGFR CKD-EPI was 89.39±15.05 mL/min/1.73 m² and 90.74±16.17 mL/min/1.73 m 2 when race adjustment. The results indicated that there is an increasing the cardiovascular risk with a decreased of eGFR, conforming to a significant inverse correlation observed between eGFR and FRS with Spearman correlation (R²=-0.256, p<0.001; R²=-0.224, p=0.001, when adjusted for race). There was a statistically significant difference in eGFR CKD-EPI (p<0.001) and eGFR CKD-EPI with race adjustment (p=0.002) among risk groups. The data suggests that the reduction eGFR is associated with elevated FRS among Brazilian adults without CKD. Furthermore, the results suggest that race adjustment it's not necessary in Brazilian population.

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“…Freire-Aradas [34] recently showed that the inclusion of HERC2 rs1129038, as advocated by Ruiz et al. [32] to improve intermediate (green-hazel) eye color prediction, revealed higher than expected green-hazel predictions in people from the Americas, Middle East, and West Asia for which IrisPlex predicted brown eyes as is expected in such regions (no eye color phenotypes were available in these samples).…”

Section: Eye Colormentioning

confidence: 94%

“…Lately, non-European populations that have experienced European admixture in their population history, such as those from the Americas, are starting to be explored for DNA-based eye color prediction [34,36]. For instance, Dembinski et al [36] analysed the 6 IrisPlex SNPs in 200 U.S. Americans; using the initial IrisPlex model, they obtained high rates of correct predictions for blue eye color (95% using an 0.7 and 0.5 probability threshold), while for brown eyes less correct predictions where obtained (76% and 88% with the 0.7, and 0.5 threshold, respectively), and no correct intermediate predictions were found.…”

Section: Eye Colormentioning

confidence: 99%

Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes

Kayser

2015

Forensic Science International: Genetics

314

245

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Exploring iris colour prediction and ancestry inference in admixed populations of South America

Cited by 35 publications

References 22 publications

Distinguishing three distinct biogeographic regions with an in‐house developed 39‐AIM‐InDel panel and further admixture proportion estimation for Uyghurs

Distinguishing three distinct biogeographic regions with an in‐house developed 39‐AIM‐InDel panel and further admixture proportion estimation for Uyghurs

Association between kidney function and Framingham risk score in an admixed population of Brazil

Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes

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