The immunogenetics of multiple sclerosis. The frequency of HLA-alleles class 1 and 2 is lower in Southern Brazil than in the European population

Werneck, Lineü Cesar; Lorenzoni, Paulo José; Arndt, Raquel Cristina; Kay, Cláudia Suemi Kamoi; Scola, Rosana Hermínia

doi:10.1590/0004-282x20160100

Cited by 8 publications

(9 citation statements)

References 32 publications

(25 reference statements)

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“…The amplified fragments were directly sequenced in forward and reverse directions by fluorescent capillary electrophoresis using POP-6 polymer (Applied Biosystems, Foster City, CA) in an ABI PRISM 3100 and 3130 Avant Genetic Analyzers ® (Hitachi High-Technologies Corporation, Tokyo, Japan). The HLA sequences were compared with reference sequences by high-resolution HLA typing using Assign SBT software (Conexio-Genomics, Fremantle, Australia) and uTYPE ® HLA Analysis Software (Thermo Fisher Scientific, Waltham, MA) 10 .…”

Section: Methodsmentioning

confidence: 99%

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confidence: 99%

“…The genes that codify these HLA cell proteins are highly polymorphic and variable, according to the population studied, with some specific types related to MS 9,10 . The failure to find a relationship between the HLA type and response to DMTs may be due to the variation in the immunogenetic profiles of the populations studied and the different techniques used in the HLA typing has previously been reported 10 . However, some studies have shown an association between the presence of neutralizing antibodies and HLA alleles such as HLA-DRB1*03:01, HLA-DRB1*04:04, HLA-DRB1*11:04 11 and the HLA-DRB1*07:01-DQB1*02:02 haplotype 12 .…”

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confidence: 99%

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Multiple sclerosis: disease modifying therapy and the human leukocyte antigen

Werneck

Lorenzoni

Kay

et al. 2018

Arq. Neuro-Psiquiatr.

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Objective: To investigate the potential relationship between the human leukocyte antigen (HLA) type (class I and II) and the response to several disease-modifying therapies (DMTs) in patients with multiple sclerosis (MS). Methods: We analyzed clinical data of 87 patients with MS at the beginning and end of each type of DMT including the disease duration, Expanded Disability Status Scale and Multiple Sclerosis Severity Score (MSSS). Genotyping of HLA-DRB1, HLA-DPB1, HLA-DQB1, HLA-A, HLA-B and HLA-C alleles were identified using high-resolution techniques. Statistical correlation between the HLA type and response to DMTs was done using the initial and final MSSS. Results: Statistical relationships (p < 0.05) were found for only 15 of 245 alleles tested. There was a reduction in the MSSS for patients treated with corticosteroids (DRB1*15:01, DPB1*04:01, DQB1*02:01 and DQB1*03:01), azathioprine (DRB1*03:01, DPB1*04:01, DQB1*03:02, DQB1*06:02, HLA-C*07:02), interferon β-1a 22 mcg (DRB1*11:04, DQB1*03:01 and DQB1*03:02), interferon β-1a 30 mcg (DPB1*02:01, HLA-C*05:01) and interferon β-1b (DQB1*02:01). Conclusion: These findings suggest a few relationships between the HLA and response to DMTs in the disability for some types of HLA class I and II alleles in a specific subset of MS patients.

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Multiple sclerosis: disease modifying therapy and the human leukocyte antigen

Werneck

Lorenzoni

Kay

et al. 2018

Arq. Neuro-Psiquiatr.

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“…In summary, Werneck et al 9 show new immunogenetic data in MS patients in Southern Brazil, which deserve more attention. As also mentioned by the authors, there is the issue not fully resolved regarding the influence of epigenetic mechanisms in the development of MS and other autoimmune diseases.…”

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“…So far, at least 57 SNPs that increase the risk of developing MS have been identified 8 . In this issue of Arquivos de Neuropsiquiatria, Werneck et al 9 chose to study the relationship between HLA alleles and the susceptibility to the development of MS in a population in Southern Brazil. The authors found a lower frequency than that described in European populations and even in Southeastern Brazil.…”

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Immunogenetics of multiple sclerosis: more questions than answers

Adoni

2016

Arq. Neuro-Psiquiatr.

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Multiple sclerosis (MS) is an immune-mediated chronic disease that affects mainly young people and usually evolves with progressive accumulation of disability in most patients over many years to decades 1 . There is a known latitudinal gradient of prevalence of MS: the higher the latitude, the farther away from the equator, the greater the number of affected people 2 . The existence of a latitude association for the development of MS brings with itself the influence of low sun exposure as a risk factor 3 . However, there are regions or ethnic groups in which, regardless of the latitude, people can present a greater or lesser risk of developing MS. Sardinians are well known exceptions as they present a much higher incidence of MS compared to the rest of Italy and even with other Mediterranean populations, which could be explained by genetic aspects 4 . On the other hand, regions in the far north of Norway have low incidences of MS compared to countries in the same latitude, pointing toward the influence of environmental factors more than genetic predisposition 5 . MS is a complex disease which is not triggered by a single factor but by the combination of genetic and environmental factors. Among the latter, in addition to the increased risk of developing MS by low levels of vitamin D (hence the relationship with sun exposure), obesity, smoking, EBV infection and excessive sodium intake in the diet are factors involved 6 . We must also mention the recent but not definitive studies of the relationship between gut microbiome and multiple sclerosis 7 . Regarding genetic factors, the question is not simple either and there is no single gene involved. From the scientific point of view, there are two possible types of genetic approach. The first and oldest of them is the study of the HLA system, which has established risk haplotypes in different populations with the knowledge already well established nowadays at an odds ratio of around 3 to develop MS in individuals with the allele HLA -DRB1*15: 01. However, the presence of this allele is neither sufficient nor necessary for the onset of MS because subjects without the allele can also develop the disease as well as many individuals carrying the risk allele who will never develop the disease. Another more recent approach is to study genes outside the HLA system identifying single-nucleotide polymorphisms (SNPs) through genome-wide association. So far, at least 57 SNPs that increase the risk of developing MS have been identified 8 . In this issue of Arquivos de Neuropsiquiatria, Werneck et al.9 chose to study the relationship between HLA alleles and the susceptibility to the development of MS in a population in Southern Brazil. The authors found a lower frequency than that described in European populations and even in Southeastern Brazil. The merit of the work was the use of highresolution technique for detection of HLA alleles. However, there are some problems which have been pointed out by the authors. First, the small number of cases included, which makes any considerat...

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Multiple Sclerosis in Latin Americans: Genetic Aspects

Rivera

2017

Curr Neurol Neurosci Rep

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Latin Americans (LA) are a heterogeneous, multiethnic group of individuals who inhabit the continental countries in Latin America (LATAM), Caribbean islands and constitute the largest ethnic minority in the USA. Commonly used terminology and ethno racial classifications to define these groups may not be accurate. Risk for multiple sclerosis (MS) among LA is generally low to medium but frequencies are increasing in the American hemisphere. Genome-Wide Association Studies (GWAS) in LA show diverse variants and genetic proportions among Mestizos, the most representative ethnic population, who themselves are the product of centuries of interracial mixing between Native Americans (or Amerindians), White Caucasian Europeans, and Black Africans. Genetic distribution diversity appears to be related to migratory and historical and socio-political factors in LATAM. Epidemiologic studies show an extremely low prevalence of MS among non-mixed Amerindians; this has been attributed to protective ancestral Asian genetics and possibly, environmental factors. Mestizos and biracial LA of African ancestry have more susceptibility to MS apparently due to the historical introduction of the European HLA-DRB1*1501 gene. Contribution from HLA typing, GWAS, and ancestry informative markers (AIMs) has been determinant in the current LA genetic understanding but more regional studies are needed. The relationship between genetics and disease regional distribution is emphasized.

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The immunogenetics of multiple sclerosis. The frequency of HLA-alleles class 1 and 2 is lower in Southern Brazil than in the European population

Cited by 8 publications

References 32 publications

Multiple sclerosis: disease modifying therapy and the human leukocyte antigen

Multiple sclerosis: disease modifying therapy and the human leukocyte antigen

Immunogenetics of multiple sclerosis: more questions than answers

Multiple Sclerosis in Latin Americans: Genetic Aspects

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