Comprehensive analysis of gene in hereditary hemochromatosis and in diseases associated with acquired iron overload.

Background: Patients with hepatitis C virus (HCV) and hepatocellular carcinoma (HCC) may or not develop iron overload (IO), which is associated with worst prognosis, because can cause serious damage to organs. gene controls the iron uptake from gut, particularly in patients with hereditary hemochromatosis (HH).

Aim: To identify associations between coding region in patients exhibiting hereditary hemochromatosis and in diseases associated with acquired IO.

Copy number variation in the susceptibility to systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic component and etiology characterized by chronic inflammation and autoantibody production. The purpose of this study was to ascertain copy number variation (CNV) in SLE using a case-control design in an admixed Brazilian population. The whole-genome detection of CNV was performed using Cytoscan HD array in SLE patients and healthy controls.

Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil.

The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project.

Y-linked microsatellites in Amazonian Amerindians applied to ancestry estimates in Brazilian Afro-derived populations.

Objectives: Proper ancestral populations are required to determine accurate ancestry estimates for Afro-derived Brazilian populations. Herein, we have genotyped Y-STRs in Amazonian Amerindians to determine the ancestral contribution in quilombo remnant communities.

Methods: The frequencies for five Y-chromosome linked microsatellites (DYS19, DYS390, DYS391, DYS392, and DYS393) were characterized in four Amerindian tribes from Brazilian Amazon (Tikúna, Baníwa, Kashinawa, and Kanamarí), and in four quilombo remnants (Mimbó, Sítio Velho, Gaucinha, and São Gonçalo) and two urban populations (Teresina and Jequié) from Northeastern Brazil.

Afro-derived Brazilian populations: male genetic constitution estimated by Y-chromosomes STRs and AluYAP element polymorphisms.

The genetic constitution of Afro-derived Brazilian populations is barely studied. To improve that knowledge, we investigated the AluYAP element and five Y-chromosome STRs (DYS19, DYS390, DYS391, DYS392, and DYS393) to estimate ethnic male contribution in the constitution of four Brazilian quilombos remnants: Mocambo, Rio das Rãs, Kalunga, and Riacho de Sacutiaba. Results indicated significant differences among communities, corroborating historical information about the Brazilian settlement.

Genomic ancestry in urban Afro-Brazilians.

Brazil is the result of interethnic crosses of European, African and Amerindian populations. Allelic frequencies for seven STR loci (TH01, TPOx, CSF1PO, vWA, FES/FPS, F13A1 and CD4), obtained from a sample of 70 individuals identified as Afro-Brazilian and 150 as mulatto, are presented here. Based on the frequencies of these genetic markers, estimates of interethnic admixture showed 62%, 26% and 12% of European, African and Amerindian contribution, respectively, for the mulatto sample and 37% and 63% of European and African contribution, respectively, for the Afro-Brazilian sample.

Y-chromosome STR haplotypes in a sample from São Paulo State, southeastern Brazil.

Unrelated males from the São Paulo State, Brazil (n=617).

Genomic ancestry of a sample population from the state of São Paulo, Brazil.

Allelic frequencies of eight autosomal short-tandem repeat (STR) loci (TH01, TPOx, CSF1PO, vWA, FES/FPS, F13A1, F13B, and CD4) were determined in 400 individuals born in the State of São Paulo. No significant deviations from Hardy-Weinberg equilibrium were found in any loci analyzed. The Unweighted Pair-Group Method with Arithmetic Mean (UPGMA) tree constructed based on genetic distances revealed that the present population was grouped with Europeans, and separated from African and Amerindian populations.