Frecuencia de patrones de anticuerpos antinucleares, en pacientes con sospecha de enfermedades sistémicas reumáticas autoinmunes / Frequency of antinuclear antibodies patterns in patients with suspected of systemic autoimmune rheumatic diseases / Frequência de Padrões de anticorpo antinucleares em pacientes com suspeita de doenças sistêmicas reumáticas autoimunes / Fréquence des profils d'anticorps antinucléaires dans les cas de suspicion de maladies rhumatismales auto-immunes systémiques

Resumen Objetivo: El objetivo de este trabajo es describir la frecuencia de los patrones de tinción de Anticuerpos antinucleares (ANA), en pacientes con sospecha de enfermedades autoinmunes, en el sureste mexicano. Materiales y métodos: Se emplearon células Hep-2 y anticuerpo anti-IgG acoplado a FITC (EuroimmunTM) para el análisis de las muestras a través de inmunofluorescencia indirecta. Resultados: Del total de los pacientes, 89 fueron mujeres (87.2%) y 13 hombres (12.7%), en edades de 2 a 88 años. Se observó que 85 muestras (70.6 %) correspondieron al patrón nuclear, 10 (9.8 %) al patrón citoplasmático y 7 (6.8 %) al patrón mitótico. De los patrones nucleares, 37 (36.8%), 17 (16.7%) y 12 (11.8%) correspondieron a patrones homogéneo, granular fino y granular grueso respectivamente. Conclusiones: En este trabajo se observó, que la mayor frecuencia de anticuerpos antinucleares se encontró en pacientes en edad productiva. Los patrones más observados fueron el homogéneo, granular fino y granular grueso. El patrón homogéneo se asocia a LES cuando se presenta en títulos altos.

Abstract Objective: The objective of this work was to describe the frequency of antinuclear antibody (ANA) staining patterns in patients with suspected autoimmune diseases in southeastern Mexico. Materials and methods: Hep2 cells and Anti-Human IgG coupled to FITC (EuroimmunTM) were used for analyzing samples through indirect immunofluorescence. Results: 87.2 % per cent (89) of the total number of patients were women and 12.7 % were men (13) aged from 2 to 88 years. It was observed that 85 samples (70.6%) corresponded to the nucleolar pattern, 10 (9.8%) to the cytoplasmic pattern and 7 (6.8%) to the mitotic pattern. Of the nuclear patterns, 37 (36.8%), 17 (16.7%) and 12 samples (11.8%) corresponded to homogeneous, nuclear fine speckled and nuclear coarse speckled patterns respectively. Conclusions: In this work, it was observed that the highest frequency of antinuclear antibodies was found in patients of productive age. The most observed patterns were the homogeneous, nuclear fine speckled and nuclear coarse speckled. The homogeneous pattern is associated with SLE when presented in high titers.

Resumo Objetivo: deste trabalho é descrever a frequência dos padrões de coloração de anticorpos antinucleares (ANA) em pacientes com suspeita de doenças autoimunes no sudeste mexicano. Materiais e métodos: células Hep-2 e anticorpo anti-IgG acoplado a FITC (EuroimmunTM) foram utilizados para a análise das amostras por imunofluorescência indireta. Resultados: Do total de pacientes, 89 eram mulheres (87,2%) e 13 homens (12,7%), com idade entre 2 e 88 anos. Observou-se que 85 amostras (70,6%) corresponderam ao padrão nuclear, 10 (9,8%) ao padrão citoplasmático e 7 (6,8%) ao padrão mitótico. Dos padrões nucleares, 37 (36,8%), 17 (16,7%) e 12 (11,8%) corresponderam aos padrões homogêneo, granular fino e granular grosso, respectivamente. Conclusões: Neste trabalho observou-se que a maior frequência de anticorpos antinucleares foi encontrada em pacientes em idade produtiva. Os padrões mais observados foram homogêneo, granular fino e granular grosso. O padrão homogêneo está associado ao LES quando ocorre em altos títulos.

Résumé Objectif : L'objectif de ce travail est de décrire la fréquence des profils de coloration des Anticorps Antinucléaires (ANA), dans les cas de suspicion de maladies auto-immunes, dans le sud-est du Mexique. Matériels et méthodes : Des cellules Hep-2 et un anticorps anti-IgG couplé au FITC (EuroimmunTM) ont été utilisés pour l'analyse desé chantillons par immunofluorescence indirecte. Résultats : Sur le total des patients, 89 étaient des femmes (87,2 %) et 13 des hommes (12,7 %), tous âgés de 2 à 88 ans. Il a été observé que 85 échantillons (70,6 %) correspondaient au patron nucléaire, 10 (9,8 %) au patron cytoplasmique et 7 (6,8 %) au patron mitotique. Parmi es patrons nucléaires, 37 (36,8%), 17 (16,7%) et 12 (11,8%) avaient respectivement un aspect homogène, moucheté à grains fins et moucheté à gros grains. Conclusions : Dans travail, il a été observé que la fréquence la plus élevée d'anticorps antinucléaires a été trouvée chez les patients en âge productif. Les aspects les plus observés ont été de type homogène, moucheté à grains fins et moucheté à gros grains. L'aspect homogène est associé à l'ELS lorsqu'il est présenté en titres élevés.

The immunogenetic diversity of the HLA system in Mexico correlates with underlying population genetic structure.

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) allele groups and alleles by PCR-SSP based typing in a total of 15,318 mixed ancestry Mexicans from all the states of the country divided into 78 sample sets, providing information regarding allelic and haplotypic frequencies and their linkage disequilibrium, as well as admixture estimates and genetic substructure. We identified the presence of 4268 unique HLA extended haplotypes across Mexico and find that the ten most frequent (HF > 1%) HLA haplotypes with significant linkage disequilibrium (Δ'≥0.1) in Mexico (accounting for 20% of the haplotypic diversity of the country) are of primarily Native American ancestry (A*02~B*39~DRB1*04~DQB1*03:02, A*02~B*35~DRB1*08~DQB1*04, A*68~B*39~DRB1*04~DQB1*03:02, A*02~B*35~DRB1*04~DQB1*03:02, A*24~B*39~DRB1*14~DQB1*03:01, A*24~B*35~DRB1*04~DQB1*03:02, A*24~B*39~DRB1*04~DQB1*03:02, A*02~B*40:02~DRB1*04~DQB1*03:02, A*68~B*35~DRB1*04~DQB1*03:02, A*02~B*15:01~DRB1*04~DQB1*03:02). Admixture estimates obtained by a maximum likelihood method using HLA-A/-B/-DRB1 as genetic estimators revealed that the main genetic components in Mexico as a whole are Native American (ranging from 37.8% in the northern part of the country to 81.5% in the southeastern region) and European (ranging from 11.5% in the southeast to 62.6% in northern Mexico). African admixture ranged from 0.0 to 12.7% not following any specific pattern. We were able to detect three major immunogenetic clusters correlating with genetic diversity and differential admixture within Mexico: North, Central and Southeast, which is in accordance with previous reports using genome-wide data. Our findings provide insights into the population immunogenetic substructure of the whole country and add to the knowledge of mixed ancestry Latin American population genetics, important for disease association studies, detection of demographic signatures on population variation and improved allocation of public health resources.

Genetic diversity of HLA system in two populations from Chiapas, Mexico: Tuxtla Gutiérrez and rural Chiapas.

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 173 Mexicans from the state of Chiapas living in the city of Tuxtla Gutiérrez (N = 52) and rural communities (N = 121), to obtain information regarding allelic and haplotypic frequencies. We found that the most frequent haplotypes in Chiapas include 12 Native American and one European haplotype. Admixture estimates revealed that the main genetic components in Chiapas are Native American (71.61 ±â€¯0.58% by ML; 53.16% of Native American haplotypes) and European (26.39 ±â€¯5.05% by ML; 25.86% of European haplotypes), and a less prominent African genetic component (2.00 ±â€¯5.20% by ML; 9.77% of African haplotypes).

Genetic diversity of HLA system in seven populations from Veracruz, Mexico: Veracruz city, Coatzacoalcos, Córdoba, Orizaba, Poza Rica, Xalapa and rural Veracruz.

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 1113 Mexicans from the state of Veracruz living in the cities of Coatzacoalcos (N = 55), Orizaba (N = 60), Córdoba (N = 56), Poza Rica (N = 45), Veracruz (N = 171), Xalapa (N = 187) and rural communities (N = 539) to obtain information regarding allelic and haplotypic frequencies. We found that the most frequent haplotypes include 12 Native American haplotypes. Admixture estimates revealed that the main genetic components are Native American (64.93 ±â€¯1.27% by ML; 55.10% of Native American haplotypes) and European (26.56 ±â€¯0.89% by ML; 28.38% of European haplotypes), and a relatively high African genetic component (8.52 ±â€¯1.82% by ML; 8.78% of African haplotypes).

Genetic diversity of HLA system in two populations from Campeche, Mexico: Campeche city and rural Campeche.

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 81 Mexicans from the state of Campeche living in the city of Campeche (N = 34) and rural communities (N = 47), to obtain information regarding allelic and haplotypic frequencies. We find that the most frequent haplotypes in the state of Campeche include ten Native American, three European, one African and one Asian haplotype. Admixture estimates revealed that the main genetic components in the state of Campeche are Native American (65.56 ±â€¯0.96% by ML; 51.24% of Native American haplotypes), European (34.44 ±â€¯10.94% by ML; 30.25% of European haplotypes), and a virtually absent African genetic component (0.00 ±â€¯10.31% by ML; 9.26% of African haplotypes).

Genetic diversity of HLA system in two populations from Tabasco, Mexico: Villahermosa and rural Tabasco.

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 224 Mexicans from the state of Tabasco living in the city of Villahermosa (N = 82) and rural communities (N = 142), to obtain information regarding allelic and haplotypic frequencies. We found that the most frequent haplotypes in Tabasco include 13 Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in Tabasco are Native American (67.79 ±â€¯1.59% by ML; 56.25% of Native American haplotypes) and European (27.21 ±â€¯3.97% by ML; 29.91% of European haplotypes), and a less prominent African genetic component (5.01 ±â€¯4.42% by ML; 8.93% of African haplotypes).