Distribution of HLA alleles in Portugal and Cabo Verde. Relationships with the slave trade route

Spínola, Hélder; Brehm, António; Williams, F.; Jesús, José; Middleton, Derek

doi:10.1017/s0003480002001185

Cited by 20 publications

(15 citation statements)

References 32 publications

(32 reference statements)

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“…, 1998), German (Ferencik & Gross‐Wilde, 2004), French South East (Dubois & Gebuhrer, 2004), Spanish (Crespi et al. , 2002), Portuguese (Spínola et al. , 2002), Brazil (Goldberg et al.…”

Section: Resultsmentioning

confidence: 77%

HLA allele and haplotype frequencies in the Albanian population and their relationship with the other European populations

Sulçebe

Sanchez‐Mazas

et al. 2009

Int J Immunogenetics

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Human leucocyte antigen (HLA) alleles are very interesting markers in identifying population relationships. Moreover, their frequency distribution data are important in the implementation of donor-recipient registry programs for transplantation purposes and also in determining the genetic predisposition for many diseases. For these reasons, we studied the HLA class I and II allele and haplotype frequencies in 160 healthy, unrelated Albanian individuals originating from all regions of the country. The HLA genotyping was performed through a 2-digit resolution SSOP method. The data were analysed with Arlequin and Phylip programs. No deviation was found from the Hardy-Weinberg equilibrium. A total of 17 A*, 30 B*, 12 Cw*, 13 DRB1* and 5 DQB1* alleles were identified. The six most frequent HLA-A-B-DRB1 haplotypes were A*02-B*18-DRB1*11 (5.60%), A*02-B*51-DRB1*16 (4.74%), A*01-B*08-DRB1*03 (3.48%), A*24-B*35-DRB1*11 (2.77%), A*02-B*51-DRB1*13 (2.21%), A*24-B*35-DRB1*14 (1.89%). Interestingly, 12 HLA-A-B-Cw-DRB1-DQB1 haplotypes occurred at a frequency >1%. When compared with the other populations, a close relationship was found with North Greek, Bulgarian, Macedonian, Romanian, Turkish, Cretan, Serbian, Croatian and Italian populations. A higher differentiation in allele frequency level was found with Western Europe populations. These data are the first report of HLA allele and haplotype distribution in an Albanian population inside this country. When compared with other populations, their distribution frequencies show close similarities with neighbouring populations of the entire Balkan area.

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“…, 1998), German (Ferencik & Gross‐Wilde, 2004), French South East (Dubois & Gebuhrer, 2004), Spanish (Crespi et al. , 2002), Portuguese (Spínola et al. , 2002), Brazil (Goldberg et al.…”

Section: Resultsmentioning

confidence: 77%

HLA allele and haplotype frequencies in the Albanian population and their relationship with the other European populations

Sulçebe

Sanchez‐Mazas

et al. 2009

Int J Immunogenetics

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“…According to REDOME (), the frequency of this haplotype is 2.3% for the whole country. The frequency of HLA‐A*11 B*35 DRB1*01 haplotype was more frequent in Group 2 (1%) than in groups 1 and 3, as found in a study conducted in Ribeirao Preto (Sao Paulo) (1.9%) (Castelli et al ., ) and in another study from Portugal population (2.9%) (Spínola et al ., ). Otherwise, the African Brazilian group showed a similar distribution to African Americans (0.4%) (Maiers et al ., ).…”

Section: Discussionmentioning

confidence: 97%

“…A similar result was found in a study with Caucasian Brazilian bone morrow donors from Parana State (2.5%) (Ruiz et al ., ). That haplotype was also reported to be more common in two Portuguese populations and in a German population that descended from Portuguese (Spínola et al ., , ; Pingel et al ., ). According to REDOME (), the frequency of this haplotype is 2.3% for the whole country.…”

Section: Discussionmentioning

confidence: 99%

Allele and haplotype frequencies of HLA‐A, B, C, DRB1 and DQB1 genes in polytransfused patients in ethnically diverse populations from Brazil

Rodrigues

Macedo

Bruder

et al. 2015

Int J Immunogenetics

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The red blood transfusion is a practice often used in patients with haematological and oncological diseases. However, the investigation of human leucocyte antigen (HLA) system frequency in these individuals is of great importance because multiple transfusions may lead to HLA alloimmunization. Brazil is a country that was colonized by many other ethnicities, leading to a mixed ethnicity and regionalized population. In view of the importance of HLA typing in these patients, the aim of this study was to investigate the allele and haplotype frequencies from polytransfused patients from three different regions from Brazil. HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 genotyping of 366 patients was performed by PCR-SSO, based on the Luminex technology (One Lambda(®) ), and the anti-HLA class I and class II antibodies were analysed using LabScreen Single Antigen Antibody Detection (One Lambda, Inc.). Allele and haplotype frequencies of polytransfused patients of three regions from Brazil were obtained using the Arlequin program. The most frequent allele frequencies observed were HLA-A*02, A*03, B*15, B*35, B*51, C*07, C*04, C*03, DRB1*13, DRB1*11, DRB1*07, DRB1*03, DRB1*01, DQB1*03, DQB1*02, DQB1*06 and DQB1*05. There were differences between the groups for allele variants HLA-B*57 (between Group 1 and Group 2) and HLA-C*12 (between Group 1 and Group 3). The most frequent haplotypes found in the sample were HLA-A*01B*08DRB1*03, DRBI*07DQB1*02, DRB1*01DQB1*05, DRB1*13DQB1*06 and A*02B*35. HLA class I and II antibodies were detected in 77.9% and 63.9% patients, respectively, while the both alloantibodies were detected in 62 (50.9%) patients. In conclusion, the HLA typing for polytransfused patients in each region has a great importance, as seen in this study; individuals from different regions from Brazil have HLA distribution not completely homogeneous.

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“…Few studies have been performed to characterize the Portuguese at the population biology level. There are a few studies focused on HLA‐A, ‐B and ‐DRB1 genes of Portuguese, but these are medium‐resolution surveys (2, 3).…”

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confidence: 99%

HLA genes in Portugal inferred from sequence‐based typing: in the crossroad between Europe and Africa

Spínola

Middleton²,

Brehm

2005

Tissue Antigens

Self Cite

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The human leukocyte antigen-A (HLA-A), -B and -DRB1 polymorphism was examined in the Portuguese population, discriminating between North, Centre and South inhabitants. All data were obtained at high-resolution level, using sequence-based typing. The most frequent allele at each locus was A* 020101 (26%), B* 440301 and B* 510101 (12% each) and DRB1* 070101 (15%). The predominant three-locus haplotype was A*020101-B*440301-DRB1*070101 (3.1%), highly frequent in North Portugal (5.4%), lower in Centre (2%) and absent in the South. The present study demonstrates that the Portuguese population has been genetically influenced by Europeans and North Africans, via several historic immigrations. North Portugal seems to concentrate, probably due to the pressure of Arab expansion, an ancient genetic pool originated from several North Africans and Europeans, influences throughout millenniums. South Portugal shows a North African genetic influence, probably of recent origin by means of Berbers accompanying Arab expansion. We found that Centre Portugal is the distribution limit of some alleles and haplotypes that characterize the North or the South of the country. Despite North, Centre and South Portugal not being significantly different in allele frequencies, this study shows that HLA allele and haplotype frequencies are not homogeneous in the country. North and South Portugal show more similarity to North Africans in opposition to Centre which appears closer to Europeans.

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Distribution of HLA alleles in Portugal and Cabo Verde. Relationships with the slave trade route

Cited by 20 publications

References 32 publications

HLA allele and haplotype frequencies in the Albanian population and their relationship with the other European populations

HLA allele and haplotype frequencies in the Albanian population and their relationship with the other European populations

Allele and haplotype frequencies of HLA‐A, B, C, DRB1 and DQB1 genes in polytransfused patients in ethnically diverse populations from Brazil

HLA genes in Portugal inferred from sequence‐based typing: in the crossroad between Europe and Africa

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