Ancestry informative markers and complete blood count parameters ...
Post on 08-Jan-2017
<ul><li><p>282</p><p>Artigo / Article</p><p>Ancestry informative markers and complete blood count parameters inBrazilian blood donorsMarcadores informativos de ancestralidade e parmetros no hemograma de doadores de sanguebrasileiros</p><p>REVISTA BRASILEIRADE HEMATOLOGIAE H E M O T E R A P I A</p><p>REVISTA BRASILEIRADE HEMATOLOGIAE H E M O T E R A P I A</p><p>Gabriela E. S. Felix1</p><p>Kiyoko Abe-Sandes2</p><p>Tasa M. Bonfim3</p><p>Maria T. Bendicho4</p><p>Patrcia Cisneiros5</p><p>Rosalina Guedes1</p><p>Cludio J. F. Brando6</p><p>Alex J. L. Torres7</p><p>Carlos Brites8</p><p>Eduardo M. Netto9</p><p>Roberto Meyer10</p><p>Songeli M. Freire11</p><p>A complete blood count is very useful in clinical diagnoses when reference ranges arewell established for the population. Complete blood counts and allele frequencies ofAncestry Informative Markers (AIMs) were analyzed in Brazilians with the aim ofcharacterizing the hematological values of an admixed population. Positive associationswere observed between gender and neutrophils, monocytes, eosinophils, erythrocytes,hemoglobin, hematocrit, MCV, MCHC and platelet counts. No significant differenceswere found for age, alcohol consumption, educational status, ethnicity, smoking inrespect to the complete blood count values. In general, men had higher red blood cellvalues, while women had higher values for white blood cells and platelets. The study ofthe population was highly heterogeneous with mean proportions ( SE) of African,European and Amerindian ancestry being 49.0 3.0%, 44.0 9.0% and 7.0 9.0%,respectively. Amerindian ancestry showed limited contribution to the makeup of thepopulation, but estimated ancestral proportions were statistically significant (r = 0.9838;P</p></li><li><p>283</p><p>A complete blood count (CBC) is one of the commonesttests used in clinical diagnosis. The result of a CBC varydepending on factors such as: age, gender, ethnicity andsmoking.1-4 Benign neutropenia is a common conditionassociated to ethnicity as it is mostly described in Africandescendants. These individuals also present with low plateletand hemoglobin counts and high lymphocyte counts.2-4</p><p>Lugada et al.5 reported regional variations in somehematologic and immunologic indices between populationsin African and the industrialized West. Studies usingAncestry Informative Markers (AIMs) showed that theBrazilian population is one of the most heterogeneous inthe world resulting from an admixture process that began500 years ago chiefly between Africans, Amerindians andEuropeans.6-7 AIMs are molecular markers of geographical-dependent distribution that have been used to estimate thedegree of admixture of populations and individuals.8</p><p>Thus, due to variations in hematological referencevalues in Brazil, this study aims at evaluating the CBC andestimating ancestry using AIMs of unrelated healthyBrazilians.</p><p>Material and method</p><p>Study populationThe study sample consisted of 289 (213 men and 76</p><p>women) subjects who donated blood at the Fundao deHematologia e Hemoterapia da Bahia (Hemoba), Salvador,Bahia, Brazil, in 2006 and 2007. This research was approvedby the Maternidade Climrio de Oliveira Research EthicsCommittee of the Universidade Federal da Bahia. All subjectssigned informed consent forms and answered asocioeconomic questionnaire. These individuals wereunrelated and seronegative for Chagas disease, HAV, HBV,HCV, HIV I and II, HTLV I and II and Syphilis (data providedby Hemoba). For DNA analysis, a random sample of 100subjects (68 men and 32 women) was selected.</p><p>Blood countsVenous blood samples were collected in a Greiner</p><p>Vacuette K3EDTA tube during the morning shift. The CBCswere performed in the Sysmex SF-3000 automated analyzer.This counter was calibrated every day as recommended bythe manufacturer.</p><p>DNA AnalysisDNA samples were extracted using the Purigene DNA</p><p>Isolation Kit (D-500 Gentra Systems). The APO, AT3-I/D,PV92, GC-1F, GC-1S and Sb 19.3 loci were analyzed asdescribed by Parra et al.9 and the LPL locus was analyzed asdescribed by Machado.7</p><p>Statistical AnalysisThe computer programs SPSS,10 EpiInfo 6.4d,</p><p>GENEPOP11 and ADMIX12 were used to select the 100random samples, to analyze the population genetics and toestimate ancestry contribution. Independent variablesconsidered were alcohol consumption, number of schoolingyears, self-defined ethnicity, gender, age and smoking. Theparental population allele frequencies used were thosedescribed by Shriver et al.8</p><p>Results</p><p>Sample characteristicsMost participants were men (74%). The mean age was</p><p>34 years old (range: 18 to 59 years - SD 9.5). The majority ofthe subjects interviewed identified themselves as black(49.5%), and reported that they had never smoked (79.9%)and occasionally consumed alcoholic beverages (47.4%).Additionally most of the participants had completed highschool (62.6%).</p><p>Blood countsThe CBC values did not have normal distribution,</p><p>although the median and mean values were very alike, whichis a tendency to normal distribution (Table 1). There was noassociation between alcohol consumption, number ofschooling years, age, ethnicity and smoking with bloodparameters (95% IC; P>0.05; Wilcoxon test). However,positive correlations were found between gender andneutrophils, monocytes, eosinophils, erythrocytes,hemoglobin, hematocrit, MCV, MCHC and platelet counts(95% IC; P 0.05, which wasexpected because the analyzed AIMs have differentchromosome locations. These results suggest that no specificgenetic structure is present in the population which isattributable to a high level of heterogeneity. The populationadmixture proportions were estimated based on a trihybridmodel of ancestry contribution. The mean ancestryproportions (SE) found were 49.0 3.0% African, 44.0 9.0% European, and 7.0 9.0% Amerindian. These results arehighly significant (r = 0.9838; p-value < 0.001). Table 2 showsthe allele frequencies of the AIMs analyzed. The allelefrequencies of the African, Amerindian and Europeanpopulations were obtained from the study of Shriver et al.8</p><p>Felix GES et al Rev. Bras. Hematol. Hemoter. 2010;32(4):282-285</p></li><li><p>284</p><p>Rev. Bras. Hematol. Hemoter. 2010;32(4):282-285 Felix GES et al</p><p>Discussion</p><p>A strong association between blood counts and genderwas observed in this current study. In general, women hadhigher values for the WBC and platelet parameters, whilemen presented higher values for RBC parameters. Thesefinding are in agreement with previous studies (Note: see 1-4).It trihybrid model (African, Amerindian and European) ofancestral contribution was established based on DNAanalysis. A small contribution was observed for Amerindians(7.0%) possibly due to convenience sampling and/or the</p><p>sample size. Even so, a study performed by Machado7 alsofound a small contribution by Amerindians (14.5%) comparedwith African (49.2%) and European (36.3%) populations. Thehematological values, in particular the WBC parameters,described here are more similar to those described by Beutler& West3 and Hsieh et al.4 for Afro-Americans than thosedescribed for Africans by Lugada et al.,5 who reported lowervalues. The possible explanation for this is the high level ofadmixture of the current population, which is probably similarto the history of Afro-Americans. We also compared ourresults with those described by Malvezzi & Pasquini13 fromthe southern region of Brazil, and found that for the WBCparameters the current work reports slightly lower values,except for lymphocyte and basophil counts. All these findingssuggest that the other intrinsic (e.g. gender, immunologicstatus, genetic) and extrinsic (e.g. environment, diet, lifestyle)factors may, potentially, interfere with hematological counts.Thus, in agreement with Beutler & West,3 the establishmentof different reference ranges for different ethnic groups doesnot solve the problem since all people represent a degree ofadmixture. Moreover, the clinical diagnosis of one individualshould consider not only signs and symptoms but also theage, gender, ethnic background, diet, smoking and alcoholconsumption, as these have been described in previous</p></li><li><p>285</p><p>studies as factors that interfere in hematological parametersas was also observed in this study with gender. These factorsshould also be considered when establishing referenceranges.</p><p>Moreover, we did not observe differences consideringage, educational status, alcohol consumption and smokingwith the blood parameters although this might be due toconvenience sampling. In this study, the main aims wereachieved; we observed a strong and significant associationbetween gender and blood parameters, and also demonstratedthat the Brazilian population is highly admixed. Nevertheless,further research with a larger sample population might exploredifferences between some other extrinsic/intrinsic factors andblood counts in this admixed population.</p><p>Resumo</p><p>O hemograma muito til no diagnstico quando o intervalo dereferncia adequadamente estabelecido para populao. Com oobjetivo de verificar os valores hematolgicos em populaoheterognea foi analisado o hemograma e frequncias allica demarcadores informativos de ancestralidade de brasileiros. Foiobservada associao positiva entre sexo e os valores deneutrfilos, moncitos, eosinfilos, eritrcitos, hemoglobina,hematcrito, MCV, MCHC e plaquetas (IC 95%; P0,05).Os homens apresentaram valores maiores no eritrograma,enquanto no leucograma e plaquetograma foram as mulheres.Foi observado tambm que a populao altamente heterogneae as mdias proporcionais (DP) de ancestralidade Africana,Europeia e Amerndia estimada foram: 49,0 3,0 %, 44,0 9,0%e 7,0 9,0%, respectivamente. A contribuio ancestral amerndiase demonstrou pequena, mas a estimativa de propores ancestraisfoi estatisticamente significante (r = 0,9838; P /JPEG2000ColorACSImageDict > /JPEG2000ColorImageDict > /AntiAliasGrayImages false /DownsampleGrayImages true /GrayImageDownsampleType /Bicubic /GrayImageResolution 300 /GrayImageDepth -1 /GrayImageDownsampleThreshold 1.50000 /EncodeGrayImages true /GrayImageFilter /DCTEncode /AutoFilterGrayImages true /GrayImageAutoFilterStrategy /JPEG /GrayACSImageDict > /GrayImageDict > /JPEG2000GrayACSImageDict > /JPEG2000GrayImageDict > /AntiAliasMonoImages false /DownsampleMonoImages true /MonoImageDownsampleType /Bicubic /MonoImageResolution 1200 /MonoImageDepth -1 /MonoImageDownsampleThreshold 1.50000 /EncodeMonoImages true /MonoImageFilter /CCITTFaxEncode /MonoImageDict > /AllowPSXObjects false /PDFX1aCheck false /PDFX3Check false /PDFXCompliantPDFOnly false /PDFXNoTrimBoxError true /PDFXTrimBoxToMediaBoxOffset [ 0.00000 0.00000 0.00000 0.00000 ] /PDFXSetBleedBoxToMediaBox true /PDFXBleedBoxToTrimBoxOffset [ 0.00000 0.00000 0.00000 0.00000 ] /PDFXOutputIntentProfile () /PDFXOutputCondition () /PDFXRegistryName (http://www.color.org) /PDFXTrapped /Unknown</p><p> /Description >>> setdistillerparams> setpagedevice</p></li></ul>
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