Ancestry Informative Markers in Partially Isolated Communities Founded by Azoreans in the Santa Catarina Island

As comunidades da Costa da Lagoa (CL) e São João do Rio Vermelho (RV) estão localizadas na Ilha de Santa Catarina, Sul do Brasil, e foram colonizadas na segunda metade do século XVIII por imigrantes vindos do Arquipélago de Açores. Estudos demográficos e genéticos mostraram também a presença de componentes africanos e ameríndios. CL é considerada isolada devido à sua localização geográfica e RV está em fase de quebra de isolado pelo aumento de migração, principalmente nos últimos 20 anos. Os objetivos deste estudo foram verificar a hipótese dos diferentes graus de isolamento nas duas comunidades, estimar as proporções de mistura étnica, assim como estabelecer comparações entre elas e com portugueses, especialmente açorianos. As freqüências de oito AIMs (FY, RB, LPL, AT3, Sb19.3, APO, PV92 e CYP1A1) e dos STRs do haplótipo estendido do cromossomo Y foram então estimadas nas comunidades de CL (n=120), RV (n=163) e na amostra urbana HM (n=50) a partir de PCR e PCR-RFLP. A informação obtida a partir das mesmas foi comparada com resultados de estudos históricos, demográficos e genéticos prévios realizados nestas comunidades. As análises estatísticas empregaram programas já descritos (GENEPOP, DISPAN, GDA, ARLEQUIN, STRUCTURE, MVSP e ADMIX 2 e 3). Com relação ao cromossomo Y, concluímos que as duas comunidades ainda apresentam semelhanças considerando as análises de diferenciação gênica. Isto pode ser devido à origem comum e recente e à proximidade geográfica, o que torna possível um fluxo de homens entre as duas comunidades. Entretanto, o acréscimo no número de marcadores ligados ao cromossomo Y permitiu a diferenciação entre estas duas comunidades, como mostram os valores de FST e de diferenciação haplotípica. As estimativas de mistura indicam preponderância do componente europeu. Entretanto, dada à indisponibilidade da literatura, faz-se ainda necessária uma escolha mais adequada das freqüências parentais no caso dos Y-STRs. Admitindo que os AIMs sejam marcadores mais eficientes em estimativas de mistura étnica, dado seus altos diferenciais de freqüência alélica entre populações parentais, as contribuições de populações não européias (principalmente africanas) observadas mantém a hipótese de cruzamentos preferenciais entre homens portugueses e mulheres ameríndias e/ou africanas na formação das comunidades.The communities of Costa da Lagoa (CL) and São João do Rio Vermelho (RV) are located on Santa Catarina Island, southern Brazil, and were settled on the second half of XVIII century by immigrants came from Azores Archipelago. Demographic and genetic studies have also been indicated the presence of African and Amerindian components. CL is considered genetically isolated due to its geographic localization and isolate breaking is occurring in RV due to the increased migration to the local, mainly in the last 20 years. The aims of the present study were to verify the hypothesis of the different degrees of isolation in the two communities, to estimate the proportions of ethnic admixture, as well as to establish comparisons between them and with Portuguese, particularly Azoreans. Allele frequencies of eigth AIMs (FY, RB, LPL, AT3, Sb19.3, APO, PV92 e CYP1A1) and of the extended Y haplotype STRs were estimated in the CL (n=120), RV (n=163) and in the urban sample HM (n=50) by means of PCR and PCR-RFLP. These data were compared with previous results from historical, demographical and genetical studies realized in these communities. Statistical analysis were carried out employing the GENEPOP, DISPAN, GDA, ARLEQUIN, STRUCTURE, MVSP and ADMIX 2 and 3 softwares. The communities showed more similarity in relation to Y chromosome on the analysis of gene differentiation, which could be due to the recent and common origin and the geographic proximity, and the interchange mainly male-mediated between them. However, the increased number of Y-linked STRs made possible the differentiation between these communities, as depicted by the FST values and the haplotypic differentiation. The ethnic admixture estimates detected a major European contribution but, due to the literature unavailability, a more suitable choice of the parental frequencies for the Y-STRs estimates is needed. Once AIMs are markers more efficient than Y-STRs on admixture estimates, due to their large allele frequency differentials between parental populations, the non-european contributions (mainly Africans) observed support the hypothesis of biased mating between Portuguese men and Amerindian and/or African women during the formation of these communities

Ancestry Informative Markers in Partially Isolated Communities Founded by Azoreans in the Santa Catarina Island

As comunidades da Costa da Lagoa (CL) e São João do Rio Vermelho (RV) estão localizadas na Ilha de Santa Catarina, Sul do Brasil, e foram colonizadas na segunda metade do século XVIII por imigrantes vindos do Arquipélago de Açores. Estudos demográficos e genéticos mostraram também a presença de componentes africanos e ameríndios. CL é considerada isolada devido à sua localização geográfica e RV está em fase de quebra de isolado pelo aumento de migração, principalmente nos últimos 20 anos. Os objetivos deste estudo foram verificar a hipótese dos diferentes graus de isolamento nas duas comunidades, estimar as proporções de mistura étnica, assim como estabelecer comparações entre elas e com portugueses, especialmente açorianos. As freqüências de oito AIMs (FY, RB, LPL, AT3, Sb19.3, APO, PV92 e CYP1A1) e dos STRs do haplótipo estendido do cromossomo Y foram então estimadas nas comunidades de CL (n=120), RV (n=163) e na amostra urbana HM (n=50) a partir de PCR e PCR-RFLP. A informação obtida a partir das mesmas foi comparada com resultados de estudos históricos, demográficos e genéticos prévios realizados nestas comunidades. As análises estatísticas empregaram programas já descritos (GENEPOP, DISPAN, GDA, ARLEQUIN, STRUCTURE, MVSP e ADMIX 2 e 3). Com relação ao cromossomo Y, concluímos que as duas comunidades ainda apresentam semelhanças considerando as análises de diferenciação gênica. Isto pode ser devido à origem comum e recente e à proximidade geográfica, o que torna possível um fluxo de homens entre as duas comunidades. Entretanto, o acréscimo no número de marcadores ligados ao cromossomo Y permitiu a diferenciação entre estas duas comunidades, como mostram os valores de FST e de diferenciação haplotípica. As estimativas de mistura indicam preponderância do componente europeu. Entretanto, dada à indisponibilidade da literatura, faz-se ainda necessária uma escolha mais adequada das freqüências parentais no caso dos Y-STRs. Admitindo que os AIMs sejam marcadores mais eficientes em estimativas de mistura étnica, dado seus altos diferenciais de freqüência alélica entre populações parentais, as contribuições de populações não européias (principalmente africanas) observadas mantém a hipótese de cruzamentos preferenciais entre homens portugueses e mulheres ameríndias e/ou africanas na formação das comunidades.The communities of Costa da Lagoa (CL) and São João do Rio Vermelho (RV) are located on Santa Catarina Island, southern Brazil, and were settled on the second half of XVIII century by immigrants came from Azores Archipelago. Demographic and genetic studies have also been indicated the presence of African and Amerindian components. CL is considered genetically isolated due to its geographic localization and isolate breaking is occurring in RV due to the increased migration to the local, mainly in the last 20 years. The aims of the present study were to verify the hypothesis of the different degrees of isolation in the two communities, to estimate the proportions of ethnic admixture, as well as to establish comparisons between them and with Portuguese, particularly Azoreans. Allele frequencies of eigth AIMs (FY, RB, LPL, AT3, Sb19.3, APO, PV92 e CYP1A1) and of the extended Y haplotype STRs were estimated in the CL (n=120), RV (n=163) and in the urban sample HM (n=50) by means of PCR and PCR-RFLP. These data were compared with previous results from historical, demographical and genetical studies realized in these communities. Statistical analysis were carried out employing the GENEPOP, DISPAN, GDA, ARLEQUIN, STRUCTURE, MVSP and ADMIX 2 and 3 softwares. The communities showed more similarity in relation to Y chromosome on the analysis of gene differentiation, which could be due to the recent and common origin and the geographic proximity, and the interchange mainly male-mediated between them. However, the increased number of Y-linked STRs made possible the differentiation between these communities, as depicted by the FST values and the haplotypic differentiation. The ethnic admixture estimates detected a major European contribution but, due to the literature unavailability, a more suitable choice of the parental frequencies for the Y-STRs estimates is needed. Once AIMs are markers more efficient than Y-STRs on admixture estimates, due to their large allele frequency differentials between parental populations, the non-european contributions (mainly Africans) observed support the hypothesis of biased mating between Portuguese men and Amerindian and/or African women during the formation of these communities

DNA barcoding reveals the mislabeling of fish in a popular tourist destination in Brazil

The consumption of raw fish has increased considerably in the West, since it is said to be potentially healthier than processed fish (for containing omega 3 and 6, essential amino acids and vitamins). However this potential benefit, as well as the taste, value and even the risk of extinction are not the same for all species of fish, constituting grounds for fraud. Using the principles of the DNA barcode we revealed mislabelling of fish in Japanese restaurants and fishmarkets in Florianópolis, a popular tourist capital in Brazil. We sequenced the COI gene of 65 samples from fisheries and 80 from restaurants and diagnosed 30% of mislabeled samples in fisheries and 26% in restaurants. We discussed that frauds may have occurred for different reasons: to circumvent surveillance on threatened species; to sell fish with sizes smaller than allowed or abundant species as being a much rarer species (law of supply); to induce product consumption using species with better taste. It should be noted that some substitutions are derived from incorrect identification and are not a fraud per se; they are due to confusion of popular names or misunderstanding by the sellers. Therefore, we suggest the implementation of a systematic regulatory program conducted by governmental agencies to reduce mislabelling in order to avoid further damage to the community (in health and financial issues) and fish stocks

Haplotypes of the HLA-G 3' Untranslated Region Respond to Endogenous Factors of HLA-G+ and HLA-G- Cell Lines Differentially.

The immune checkpoint HLA-G prevents maternal rejection of the fetus and contributes in cancer invasion and acceptance of allografts. The 5' and 3' regulatory regions of the HLA-G gene are polymorphic and balancing selection probably maintains this variability. It is proposed that nucleotide variations may affect the level of HLA-G expression. To investigate this issue we aimed to analyze how haplotypes of the 3' untranslated region (3'UTR) with highest worldwide frequencies, namely UTR-1, UTR-2, UTR-3, UTR-4, UTR-5, UTR-18 and UTR-7, impact the expression of a luciferase reporter gene in vitro. Experiments performed with the HLA-G positive cell lines JEG-3 (choricarcinoma) and FON (melanoma), and with the HLA-G negative cell lines M8 (melanoma) and U251MG (glioblastoma) showed that the HLA-G 3'UTR polymorphism influences the response to endogenous cellular factors and may vary according to the cell type. UTR-5 and UTR-7 impact the activity of luciferase the most whereas UTR-2, UTR-3, UTR-4, and UTR-18 have intermediate impact, and UTR-1 has the lowest impact. These results corroborate the previous associations between amounts of plasma sHLA-G levels and 3'UTR haplotypes in healthy individuals and reinforce that 3'UTR typing may be a predictor of the genetic predisposition of an individual to express different levels of HLA-G

Ausência de associação entre os polimorfismos do gene interleucina-18 e artrite reumatoide

OBJETIVO: Analisar a associação dos polimorfismos do gene interleucina-18 (IL-18) com artrite reumatoide (AR) e com fatores de risco de doenças cardiovasculares (DCV). MÉTODOS: A amostra foi constituída por 97 pacientes com AR e 151 controles saudáveis. Nos primeiros, foram analisados fatores de risco de DCV, tais como níveis do colesterol, hipertensão arterial, tabagismo e fator reumatoide, bem como o nível da proteína C-reativa (CRP). O DNA foi extraído e foram analisados os polimorfismos de nucleotídeo único (SNP) nas posições -607C/A e -137G/C do gene IL-18 em ambos os grupos. O equilíbrio de Hardy-Weinberg (EHW) e o odds ratio (OR) foram realizados, considerando IC 95% e P < 0,05. RESULTADOS: As frequências do alelo -607A nos pacientes com AR e nos controles foram de 0,443 e 0,424 e do alelo -137C foram de 0,304 e 0,291, respectivamente. As frequências do genótipo estavam em EHW, exceto em controles no locus -137 (P = 0,006). Não foi encontrada associação dos polimorfismos do gene IL-18 com AR, nem com fatores de risco de DCV, incluindo o nível do colesterol e de CRP (P &gt; 0,05). Além disso, observaram-se mais indivíduos fumantes entre pacientes com AR em comparação aos controles (OR = 1,691; P = 0,088), e os níveis de CRP eram ligeiramente mais elevados em pacientes fumantes quando comparados aos de pacientes não fumantes (OR = 2,673; P = 0,061). CONCLUSÕES: Ao analisar uma amostra de pacientes com AR no sul do Brasil, não foi encontrada associação dos polimorfismos do gene IL-18 com AR, nem com os fatores de risco de DCV

Impact of the 14 bp InDel on the luciferase reporter gene expression when both construction types (1Fter-4R and 1Fter-2R primers) were considered in each cell line independently or in the four cell lines in combination.

<p>Impact of the 14 bp InDel on the luciferase reporter gene expression when both construction types (1Fter-4R and 1Fter-2R primers) were considered in each cell line independently or in the four cell lines in combination.</p

Significant differences in the modulation of the expression of the luciferase reporter gene considering either the cell type or the status of HLA-G expression, with 1Fter-2R and 1Fter-4R constructions and haplotypes combined.

<p>Points indicate the mean and vertical bars indicate the 95% confidence interval. The number of experiments considering each cell line or the status of HLA-G expression is indicated between parentheses. MW: Mann-whitney test; KW: Kruskal-Wallis test. (A) Modulation of luciferase gene expression in each cell line separately. The decrease in the luciferase gene activity in U251MG (HLA-G-) and FON cells (HLA-G+) was not statistically different. (B) Modulation of luciferase gene expression in the HLA-G- (M8 + U251MG) cells <i>vs</i> HLA-G + (FON + JEG-3) cells combined.</p

40:7; Personal non-commercial use only

ABSTRACT. Objective. HLA-G has well recognized tolerogenic properties in physiological and nonphysiological conditions. The 3&apos; untranslated region (3&apos;UTR) of the HLA-