Apolipoprotein B 3'-VNTR polymorphism in Eastern European populations

Apolipoprotein B 3' (3' ApoB) minisatellite polymorphism was studied in healthy unrelated individuals from the Russian Federation and the Republic of Belarus, in 10 populations from five ethnic groups: Russians, Byelorussians, Adygeis, Kalmyks and Yakuts. The analysis was carried out using PCR and electrophoresis followed by silver staining. Overall, 25 alleles of the 3' ApoB minisatellite, ranging from 25 to 55 repeats, were detected. Heterozygosity indices were high and varied from 0.73 to 0.84. The distributions of alleles of this minisatellite in the Caucasoid populations (Russians, Byelorussians and Adygeis) had a bimodal character, whereas that for Mongoloid populations (Kalmyks and Yakuts) had a unimodal distribution. Nei's genetic distances between the populations studied and some reference populations of Europe and Asia were estimated. Despite their allele distribution homogeneity, different East Slavonic ethnic groups were clearly resolved by multidimensional analyses. The East Slavonic and Adygei populations revealed a high similarity with European Caucasoids. The Mongoloid populations (Kalmyks and Yakuts) were considerably different from those of the European Caucasoid populations, but were similar to other Asian Mongoloid populations. The results demonstrate the variability of 3' ApoB minisatellite polymorphism not only in distant populations but also, to a certain extent, in genetically relative ones.     

Red cell adenosine deaminase (ADA) polymorphism in Southern Africa, with special reference to ADA deficiency among the !Kung

Studies have been carried out on polymorphism of adenosine deaminase in 36 Southern African populations comprising more than 3000 individuals. The common variant allele ADA2 has been found to attain polymorphic frequencies only in those populations descended from non-indigenous (i.e. non-Negro and non-Khoisan) groups. Its presence in certain other populations at low frequencies could be ascribed to small-scale Caucasoid admixture. A deficiency of the enzyme is found in certain members of the !Kung division of the San ('Bushman'). The low levels of enzyme activity are not associated with severe combined immunodeficiency and the gene which determines them appears to be polymorphic in the !Kung and possibly in some other San populations as well as possibly in Negro populations which have received substantial contributions of San genes.     

HLA‐A, ‐B, ‐DR allele group frequencies in 7007 kidney transplant list patients in 27 UK centres

This observational study aims to determine the HLA specificity frequencies of patients on the UK renal transplant list, which can be used as a resource for those laboratories that support the UK renal transplant programme. Whilst the HLA specificity frequencies may differ from that of the general population, it is the individuals on the transplant list who are in need of a new kidney, which has to be provided from the general population. Any differences in protein allele frequencies between this patient population and the general population are likely to be minimal because of the very large number of patients included. The HLA‐A, ‐B and ‐DR allele group frequencies from 7007 patients on the UK kidney transplant list (August, 2009) were analysed. HLA types had been submitted to NHSBT to register patients on the UK deceased donor kidney waiting list. The data were submitted from 27 different registering centres throughout the UK. Within this data set, 25 different HLA‐A, 50 HLA‐B and 18 HLA‐DR allele groups were present. The most common allele groups at each locus were ‐A2 (phenotype frequency 42.6%), ‐B44 (phenotype frequency 23.3%) and –DR4 (phenotype frequency 29.8%). The least common allele groups at each locus were ‐A19, ‐ A43, ‐B16, ‐B21, ‐B22, ‐B83 and ‐DR5. Reports of HLA frequency (protein allotype) data from populations as large as this are not readily available adding value to this observational study.     

Meckel syndrome in different populations

We report on 18 infants from 13 families where the infant was affected with the Meckel syndrome. The parents belong to various national groups--Russians, Byelorussians, Poles, Ukranians, Letts, and Tatars. One child was from an incestuous union (half-sister and half-brother), in 4 families the parents were natives of the same or neighboring villages; other parents apparently were not related. Excluding 3 couples from Central Russia, the Ukraine, and Tatary, the other 10 families were the inhabitants of the Moscow region, Byelorussia, and Latvia. In 3 of these families at least one grandparent was of Tatar descent. At the same time the frequency of Tatars in these regions is less than 1%. Using the Newton binomial distribution it was shown that the hypothesis about equal frequency of the Meckel syndrome gene among Tatars and other national groups under study may be excluded completely, and therefore the alternative hypothesis about an unusually high frequency of this gene among Tatars must be accepted. Such analysis may be useful for comparative evaluation of gene frequencies in populations which cannot be studied directly.     

Y Chromosome and Mitochondrial DNA Variation in Lithuanians

The genetic composition of the Lithuanian population was investigated by analysing mitochondrial DNA hypervariable region 1, RFLP polymorphisms and Y chromosomal biallelic and STR markers in six ethnolinguistic groups of Lithuanians, to address questions about the origin and genetic structure of the present day population. There were no significant genetic differences among ethnolinguistic groups, and an analysis of molecular variance confirmed the homogeneity of the Lithuanian population. MtDNA diversity revealed that Lithuanians are close to both Slavic (Indo‐European) and Finno‐Ugric speaking populations of Northern and Eastern Europe. Y‐chromosome SNP haplogroup analysis showed Lithuanians to be closest to Latvians and Estonians. Significant differences between Lithuanian and Estonian Y chromosome STR haplotypes suggested that these populations have had different demographic histories. We suggest that the observed pattern of Y chromosome diversity in Lithuanians may be explained by a population bottleneck associated with Indo‐European contact. Different Y chromosome STR distributions in Lithuanians and Estonians might be explained by different origins or, alternatively, be the result of some period of isolation and genetic drift after the population split.     

HLA-A, -B, -C polymorphism in a UK Ashkenazi Jewish potential bone marrow donor population

To further our knowledge of HLA polymorphism in different ethnic populations and to increase the number of full HLA class I typed potential bone marrow donors on the Anthony Nolan Bone Marrow Trust register, HLA-A, -B and -C polymorphism was characterised in 412 Ashkenazi Jewish potential donors. Serological typings and limited molecular analysis was performed for HLA-A and -B, and molecular typings were performed for HLA-C. Gene and haplotype frequencies were calculated using the maximum likelihood method and compared with UK Caucasoid and other Jewish populations. While the specificities identified were in general overlapping with the UK Caucasoid data, a difference in the frequencies of individual specificities was observed. For example, HLA-B62, a common serotype found in the UK Caucasoid population, is almost absent in the Ashkenazim. HLA-A, -C, -B haplotype frequencies also differ between the two populations with A26-Cw*1203-B38 and A24-Cw*04-B35 significant in the Ashkenazim, whilst A1-Cw*07-B8, a common Caucasoid haplotype, was found to be less frequent. Overall the results for the UK Ashkenazi population were most similar to previous reports on Polish/Russian Jews.     

Y‐Chromosomal Lineages of Latvians in the Context of the Genetic Variation of the Eastern‐Baltic Region

Variations of the nonrecombining Y‐chromosomal region were investigated in 159 unrelated Baltic‐speaking ethnic Latvians from four different geographic regions, using 28 biallelic markers and 12 short tandem repeats. Eleven different haplogroups (hgs) were detected in a regionally homogeneous Latvian population, among which N1c, R1a, and I1 cover more than 85% of its paternal lineages. When compared its closest geographic neighbors, the composition of the Latvian Y‐chromosomal gene pool was found to be very similar to those of Lithuanians and Estonians. Despite the comparable frequency distribution of hg N1c in Latvians and Lithuanians with the Finno‐Ugric‐speaking populations from the Eastern coast of the Baltic Sea, the observed differences in allelic variances of N1c haplotypes between these two groups are in concordance with the previously stated hypothesis of different dispersal ways of this lineage in the region. More than a third of Latvian paternal lineages belong specifically to a recently defined R1a‐M558 hg, indicating an influence from a common source within Eastern Slavic populations on the formation of the present‐day Latvian Y‐chromosome gene pool.     

Mitochondrial DNA variability in Russians and Ukrainians: Implication to the origin of the Eastern Slavs

In order to investigate the origin of the Eastern Slavs, mitochondrial DNA (mtDNA) sequence variation was examined in Russians and Ukrainians by hypervariable segment I (HVS I) sequencing and restriction analysis of the haplogroup-specific sites. No significant differences were found for Russians and Ukrainians when compared to other Europeans – in fact, they fall within the range of gene diversity seen throughout Europe and exhibit the unimodal pattern of pairwise sequence differences. Moreover, HVS I sequences in the Russians and Ukrainians are similar or identical to those found in eastern and western European populations. Despite the small genetic distances between Europeans, phylogenetic analysis reveals a considerable heterogeneity of Eastern Slavonic populations – they do not cluster together onto a phylogenetic tree. Analysis of distribution of rare HVS I types shared between populations of Eastern Slavs and other West Eurasians has shown that Russians share rare haplotypes mainly with Germans and Finno–Ugric populations. Of these, subhaplogroup H1 sequence types, which are defined by different combinations of nucleotides 16192T, 16294T, 16304C, 16311C and 16320T, are found predominantly in common between Russians and German-speaking populations. The data obtained allow us to conclude that the Slavonic migrations in early Middle Ages from their putative homeland in central Europe to the east of Europe were accompanied mostly by the same mtDNA types characteristic for the pre-Slavonic populations of eastern Europe.     

Association of Interleukin 10 Gene Polymorphisms with Autoimmune Thyroid Disease: Meta‐Analysis

The aim of this study was to perform a meta‐analysis of eligible studies and to derive a precise estimate of the association between interleukin 10 (IL10) polymorphisms and susceptibility to autoimmune thyroid disease (AITD). Meta‐analyses were conducted on the associations between AITD and the ‐1082 G/A (rs1800896), ‐819 C/T (rs1800871) and ‐592 C/A (rs1800872) polymorphisms in IL10, and the haplotype of these polymorphisms and AITD. A total of 2903 AITD patients and 3060 controls in 10 eligible studies were included in the meta‐analysis. This meta‐analysis showed significant associations between IL10 at the ‐1082 G allele and overall AITD (OR: 1.44, 95% CI 1.13–1.82, P = 0.003), but no association between the IL10 ‐592 C allele and the ‐819 C allele and AITD. Subgroup studies demonstrated significant associations between the ‐1082 G allele and susceptibility to Graves’ disease. Ethnicity‐specific meta‐analysis revealed significant associations between the ‐1082 G allele and AITD susceptibility in Asian populations; however, in Middle Eastern populations, no association was evident. Meta‐analysis of the IL10 haplotype revealed an association between the ATA haplotype and AITD (OR: 1.17, 95% CI 1.00–1.36, P = 0.04). Meta‐analysis demonstrates that the IL10 polymorphisms are associated with susceptibility to AITD.     

HLA gene and haplotype frequencies in a Nagaybaks population from the Chelyabinsk Region (Russian South Urals)

A total of 112 Nagaybaks, a Turkic ethnoconfessional group living mainly in the Nagaybak district of the Chelyabinsk Region of Russian South Urals, were genotyped for HLA-A, -B, -DRB1, -DQA1 and -DQB1 loci using PCR-SSP (low-resolution) and HLA-A29 (high-resolution). All loci were in Hardy-Weinberg equilibrium (all p values >0.1 thus showing no locus-level deviations. The genotype data are available in the Allele Frequencies Net Database under the population name ‘‘Russia, South Ural, Chelyabinsk Region, Nagaybaks” and the identifier AFND0003397.     

Variation and linkage disequilibrium between a structurally polymorphic Alu located near the OR12D2 gene of the extended major histocompatibility complex class I region and HLA‐A alleles

We investigated the genetic structure and population frequency of an Alu repeat dimorphism (absence or presence) located near the OR12D2 gene within the olfactory receptor gene region telomeric of the alpha HLA class I region (HLA‐J, ‐A, ‐G, ‐F). The structurally polymorphic Alu insertion (POALIN) locus rs33972478 that we designated as AluOR and its allele and haplotype frequencies and association with HLA‐A and six other structurally polymorphic retroelements (3 Alu, 2 SVA and an HERVK9) were determined in 100 Japanese, 174 Caucasians and 100 African American DNA samples. The AluOR insertion varied in population frequency between 14.4% and 31.5% with significant differences between the Japanese and Caucasians, but not between the Caucasian and African Americans. Although AluOR is located 600 kb from the HLA‐A gene, there was a significant linkage disequilibrium between the two loci and a high percentage association of the AluOR insertion with HLA‐A29 (79%) in Caucasians and HLA‐A31 (69.4%) in Japanese. Inferred haplotypes among three‐locus to eight‐locus haplotype structures showed maximum differences between the populations with the eight‐locus haplotypes. The most frequent multilocus haplotype shared between the populations was the HLA‐A2 allele in combination with the AluHG insertion. The AluOR whether investigated alone or together with the HLA class I alleles and other dimorphic retroelements is an informative ancestral marker for the identification of lineages and variations within the same and/or different populations and for examining the linkage and crossing‐over between the HLA and OR genomic regions in the extended MHC.     

Association of the tumor necrosis factor ‐308 A/G promoter polymorphism with Tourette syndrome

Several lines of evidence suggest that certain subtypes of obsessive‐compulsive and tic disorders might be paediatric manifestations of post‐streptococcal autoimmunity caused by cross‐reactive autoantibodies. As tumor necrosis factor (TNF) is known to play a seminal role in coordinating the humoral immune response, TNF gene polymorphisms have been proposed as genetic risk factors both in obsessive‐compulsive disorder (OCD) and Tourette syndrome (TS). The aim of this study was to investigate two TNF promoter polymorphisms (‐238 A/G: rs361525 and ‐308 A/G: rs1800629) on the genetic susceptibility to OCD and TS in a child psychiatric sample (102 patients with OCD and 117 patients with TS). In the case–control set‐up, the genotype and allele frequencies were compared to a control group from the general population (n = 405). As a control child psychiatric sample, 194 children with attention‐deficit hyperactivity disorder were also genotyped. Our results revealed that the TNF ‐308 G‐allele was more frequent in children with TS compared to controls (90.2% vs 84.8%, P = 0.037). For confirmation of this genetic association, a family‐based analysis, the transmission disequilibrium test was used, which showed preferential transmission of the G‐allele to patients with TS (nominal P‐value 0.011). Moreover, this allele was also transmitted more frequently to children with tic symptoms (nominal P‐value 0.039). No association was found between OCD or obsessive‐compulsive symptoms and the studied TNF polymorphisms. Based on these findings, the TNF ‐308 G‐allele can be associated with Tourette syndrome, highlighting the potential pathophysiological role of TNF dysregulation.     

Analysis of the distribution of HLA-B alleles in populations from five continents

A two stage PCR-SSOP typing procedure, that permitted HLA-B allele assignment, was applied to DNA samples obtained from six diverse populations -Brazilian, Mexican (Series and Mestizos), Cuban (Caucasoid and Mulatto), South African Zulu, Omani, and Singapore Chinese. HLA-B allele frequencies and HLA-A/B two locus haplotype frequencies were compiled for each population.     

HLA class I and class II of the Nivkhi, an indigenous population carrying HTLV-I in Sakhalin, Far Eastern Russia

Abstract: The Nivkhi are a native people isolated in the Nogliki region of Sakhalin, Far East Russia, where our group recently recognized human T-cell lymphoma virus type I (HTLV-I) infection. In order to trace the Nivkhi's ethnic background and the HTLV-I carriers, we investigated HLA class I and II allele types of 53 Nivkhi (including four HTLV-I carriers). Major HLA class I alleles of the Nivkhi were A*24, A*02, B*40, B*48, B*27, B*35 with allele frequencies similar to the Orochon, a native people isolated in Northeast China. Major Nivkhi class II alleles were DRBl*0901, DRB1*1401, DRB1*1201, DRB1*1106 with allele frequencies similar to the Ainu in Hokkaido, Japan, but dissimilar to other Asian Mongoloids, including the general Japanese population. The same HLA class I and II allele frequencies are found in both Nivkhi HTLV-I carriers and the background population. A dendrogram of HLA class I alleles showed that the Nivkhi were closely related to the Orochon and Yakut, and remotely related to the Japanese, Ainu and other Asian Mongoloids. Interestingly, the Nivkhi were intermediately related to the Amerindians (Inuit, Tlingit and Andeans), a relationship closer than to the Japanese and Asian Mongoloids. These results suggested the Nivkhi might be related to some genetic group of Northeast Asian Mongoloids like the Orochon and Yakut, being infected with HTLV-I in the distant past before diverging into the current major Mongoloid ethnic groups.     

Polymorphism of LMP2, TAP1, LMP7 and TAP2 in Brazilian Amerindians and Caucasoids: implications for the evolution of allelic and haplotypic diversity

In the class II region of the major histocompatibility complex (MHC), four genes implicated in processing of MHC class I‐presented antigens have been described. Two of these (TAP1 and TAP2) code for endoplasmic reticulum membrane transporter proteins and the other two (LMP2 and LMP7) for proteasome subunits. These genes are polymorphic, although much less so than classical MHC class I and II genes. There is controversy concerning the possible functional implications of this variation. Population genetics is one of the means of investigating the evolutionary and functional significance of genetic polymorphisms; however, few populations have been analysed with respect to TAP and LMP diversity. We present here the polymorphism of TAP1, TAP2, LMP2 and LMP7 genes in the Kaingang and Guarani Amerindian tribes, and in the Caucasoid population of the Brazilian State of Paraná. Allele frequencies found in the Caucasoids were close to those described for similar populations. Amerindians had a somewhat more restricted polymorphism, and allele and haplotype frequencies differed greatly between the two tribes. Overall linkage disequilibrium (LD) between the four genes was low in the Caucasoids, but high in the Amerindians, for which significant LD was seen for all informative pairs of loci. Comparing results of this and previous studies we observed that, whenever significant LD occurs in non‐Amerindians, it tends to be similar in the different ethnic groups. While this might be interpreted as evidence of co‐evolution of genes in the TAP‐LMP region, the high haplotypic diversity in all populations and low LD in non‐Amerindians indicate absence of co‐evolution of the different genes. Distributions of allele and genotype frequencies are consistent with the hypothesis of selective neutrality. We conclude that genetic polymorphism of the human TAP and LMP genes and haplotypes is of little, if any, functional significance.     

GENETIC STUDY OF TUNISIAN BERBERS. I. Gm,Am AND Km IMMUNOGLOBULIN ALLOTYPES AND ABO BLOOD GROUPS

The Gm, Am and Km immunoglobulin allotypes and ABO blood groups were studied in three groups of Tunisian Berbers. The results showed that the actual Berbers of Tunisia present certain heterogeneity and their ancestors were probably the first inhabitants of North Africa. Indeed, although their Gm-Am haplotypes are mainly Caucasoid, some of them are typically African. The group of Kesra village, the most Caucasoid, shows frequencies of Gm-Am haplotypes very close to those of South European populations, particularly the Spanish, who are probably of the same origin. The gene frequencies of the ABO groups in the three Berber groups were similar to those recorded in European populations with a relatively high frequency of the O genes typical of the Berbers.     

Vancomycin‐resistant enterococci from Portuguese wastewater treatment plants

The objective of this study was to evaluate the incidence of vancomycin resistant enterococci in sludge and sewage of urban and poultry‐slaughterhouse wastewater treatment plants. A total of 17 vancomycin resistant enterococci (eight vanA ‐containing Enterococcus faecium and nine vanC1/vanC2 ‐containing Enterococcus gallinarum/casseliflavus) were found among 499 isolates of sewage and sludge samples of 14 urban and nine poultry‐slaughterhouse wastewater treatment plants. These seventeen VRE isolates showed resistance to kanamycin (n = 8), tetracycline (n = 7), erythromycin (n = 7), ciprofloxacin (n = 7), ampicillin (n = 7), streptomycin (n = 6), and gentamicin (n = 2). The tetM gene, related with tetracycline resistance, was found in six of eight van A‐containing isolates, in all seven vanC‐1 isolates and in one of two vanC‐2 isolates. The ermB gene in seven erythromycin‐resistant isolates; and the aac6 ′‐aph2 ″ gene in the two high‐level‐gentamicin‐resistant isolates. Moreover, two vanA ‐containing E. faecium isolates harbored the hyl virulence gene, and three isolates the entA bacteriocin gene. The purK‐1 allele was detected in our urban vanA ‐containing E. faecium isolate, and we found as well the purK‐6 allele in one poultry‐slaughterhouse vanA ‐containing E. faecium isolate. This study suggests that the wastewater treatment plants might be an important source of dissemination of antibiotic‐resistant enterococci in Portugal. (© 2010 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)     

Association of interleukin‐18 promoter polymorphisms with chronic obstructive pulmonary disease in male smokers

Chronic obstructive pulmonary disease (COPD) is considered a complex genetic disorder and it is expected that many genes play a role in the pathogenesis of this disease. Previous studies have reported that several variations within the interleukin (IL)‐18 gene promoter region have been associated with different inflammatory diseases such as asthma. However, the association of IL‐18 promoter polymorphisms with COPD has not been studied yet. We then performed a prospective case–control study to explore this association in male smokers of Chinese Han people. Our study recruited 112 COPD cases and 105 healthy controls matched for age. The genotyping of IL‐18 promoter polymorphisms (‐607 C/A and ‐137 G/C) was performed using TaqMan single nucleotide polymorphism genotyping assays. The frequencies of the alleles and genotypes in patients and controls were compared. We found that the frequency of IL‐18 ‐607 C allele was significantly increased in patients with COPD (odds ratio (OR) = 1.48, 95% confidence interval (CI) = 1.01–2.15, P = 0.04). The frequency of IL‐18 ‐607 C allele was significantly higher in the GOLD (Global initiative for Obstructive Lung Disease) 3–4 group compared with the GOLD 1–2 group (OR=2.06, 95% CI = 1.21–3.51, P = 0.01). There were no significant differences in the frequencies of the alleles and genotypes of IL‐18 ‐137 G/C polymorphism between the patients and healthy smokers or between GOLD 3–4 group and GOLD 1–2 group. Our study revealed that the IL‐18 ‐607 C/A polymorphism was associated with COPD susceptibility and severity of airflow limitation in male smokers of Chinese Han people.     

Allele frequencies of polymorphisms of the tumour necrosis factor‐α, interleukin‐10, interferon‐γ and interleukin‐2 genes in a North European Caucasoid group from the UK

Cytokine gene polymorphisms affecting cytokine production may influence rejection and graft‐versus‐host disease following solid organ and haemopoietic stem cell (HSC) transplantation, respectively. Polymorphisms in the regulatory regions of several cytokine genes have been described; for example, tumour necrosis factor‐α (TNF‐α) has a G/A substitution at position ?308, interleukin‐2 (IL‐2) has a T/G substitution at position ?330 and interleukin‐10 (IL‐10) has substitutions at positions ?1082(G/A), ?819(C/T) and ?592(C/A). Microsatellites associated with cytokine production have been detected in the first intron of the IFN‐γ gene and flanking the TNF‐α gene. In this study, we have genotyped a single panel of healthy Northern European Caucasoids living in the south‐east of England for the above‐mentioned polymorphisms and compared the results to those published for other populations. A PCR method using sequence‐specific primers (SSP) was developed for genotyping the IL‐2 polymorphism, and the ABI PRISM? 310 genetic analyser was used to detect the TNF‐α and IFN‐γ microsatellites. The allele frequencies of all the studied polymorphisms were consistent with those reported for other UK Caucasoid populations, but differences were observed when compared to other Oriental, African and Caucasoid groups. If these cytokine polymorphisms prove to have functional consequences, then any differences across population groups may have significant clinical relevance in disease and in the outcome of solid organ and HSC transplantation.     

Frequencies of allele groups HLA‐A,HLA‐B and HLA‐DRB1 in a population from the northwestern region of São Paulo State,Brazil

The aim of this study was to estimate the HLA‐A, HLA‐B and HLA‐DRB1 allele groups frequencies in a population of 1559 volunteer bone marrow donors from the northwestern region of São Paulo State grouped according to ethnicity. An additional objective was to compare the allele frequencies of the current study with data published for other Brazilian populations. The allele groups were characterized by the PCR‐rSSO method using Luminex^® technology. Twenty HLA‐A, 32 HLA‐B and 13 HLA‐DRB1 allele groups were identified. The most common allele groups in European descent and mixed African and European descent samples were HLA‐A*02, HLA‐B*35 and HLA‐DRB1*13, while HLA‐A*02, HLA‐B*35 and HLA‐DRB1*11 were more common in African descent samples. The HLA‐A*23, HLA‐A*36, HLA‐B*58 and HLA‐B*81 allele groups were more common in sample from African descent than European descent, and the HLA‐DRB1*08 was more common in mixed African and European descent than in European descent. Allele group frequencies were compared with samples from other Brazilian regions. The HLA‐A*30 and HLA‐A*23 were more common in this study than in the populations of Rio Grande do Sul and Paraná; and the HLA‐A*01, HLA‐B*18, HLA‐B*57 and HLA‐DRB1*11 were more common in this study than in the population of Piauí. The least frequent allele groups were HLA‐A*31, HLA‐B*15, HLA‐B*40 and HLA‐DRB1*08 for the population of Piauí, HLA‐A*01 and HLA‐A*11 for Parana, HLA‐A*02 and ‐A*03 for Rio Grande do Sul and HLA‐DRB1*04 for Paraná, Rio Grande do Sul and Piauí. These data provide an overview on the knowledge on HLA diversity in the population of the northwestern region of São Paulo State and show that the genes of this system are useful to distinguish different ethnic groups.