HLA polymorphism in a Majorcan population of Jewish descent: comparison with Majorca, Minorca, Ibiza (Balearic Islands) and other Jewish communities.

'Chueta' was the name given to the Catholic descendants of Jewish victims of the last Spanish Inquisition process in Majorca Island in the western Mediterranean. We have studied the allele distribution of HLA-A, -B, -Cw, -DRB1 and -DQB1 loci of 103 random, healthy, unrelated individuals belonging to the ancient Majorcan Jewish community, known locally as Chuetas, and 589 individuals from the Balearic population selected because of their typical Balearic - Majorca, Minorca or Ibiza - lineages and according to their ancestor's place of birth. Our aim was to establish the genetic relationship between Majorcan Chuetas, and Balearic and other Jewish and Mediterranean populations. Our results have shown that, to a remarkable extent, they have retained their biological identity, with a unique pattern, in terms of gene and haplotype frequencies, separate from the other populations of Majorca. The Chuetas were found to be more related to Moroccan and Libyan Jews than other Majorcans. Characteristic Jewish haplotypes, A26-B38-DRB1*13, A24-B38-DRB1*11, A1-B52-DRB1*15/16, were found in our study. Some peculiarities were observed in the distribution of common haplotypes among the three main Balearic Islands. The Ibizan population was genetically different from the other Balearic populations, with a high frequency of some haplotypes, for example, A29-Cw*16-B44-DRB1*07-DQB1*03; A1-Cw*07-B8-DRB1*03-DQB1*02. We also found a new haplotype, A25-Cw*12-B39-DRB1*11-DQB1*03(3.5%), in Ibizans and a more limited variability in the HLA alleles that were expressed, perhaps because of genetic isolation. The genetic diversity of the populations from Majorca and Minorca were similar and more related to the mainland Spanish population.

Registro Español de Inmunodeficiencias Primarias (REDIP). Informe de actualización. Octubre 2001 / No disponible

Dado que las Inmunodeficiencias Primarias (IDP) son enfermedades poco frecuentes, resulta de utilidad epidemiológica desarrollar registros nacionales específicos. El Registro Español de Inmunodeficiencias Primarias (REDIP) fue creado en 1993. Se admitieron los pacientes diagnosticados a partir de enero de 1980 hasta la actualidad. Los casos registrados hasta octubre de 2001 han sido 2.242. Las inmunodeficiencias remitidas han sido diagnosticadas de acuerdo con los criterios de la OMS (1997) (1). Los síndromes más registrados son, en orden de frecuencia, en primer lugar la deficiencia selectiva de IgA (832 registros), seguida por la inmunodeficiencia variable común (430), las inmunodeficiencias combinadas severas y deficiencias de células T (282), las deficiencias de complemento (256), la agammaglobulinemia ligada al sexo (91), la deficiencia de subclases de IgG (90), y la enfermedad granulomatosa crónica (66). El tratamiento sustitutivo con gammaglobulina endovenosa consta registrado en 696 pacientes, de éstos 553 pertenecen al grupo de deficiencias predominantes de anticuerpos. El trasplante de médula ósea se ha realizado en 63 pacientes. El registro mantiene un aumento constante y regular, presentando variaciones importantes en la contribución al mismo entre las distintas comunidades autónoma (AU)

Due to the low frequency of primary immunodeficiency disorders (PIDs), national registries are useful to characterize the incidence and prevalence of the diff e rent disorders . The Spanish Register for Primary Immunodeficiencies (REDIP) began in 1993. Two thousand two hundred and forty two cases (n=2242) of primary immunodeficiencies were re g i s t e red till October 2001. PIDs nomenclature and diagnostic criteria were made according to the report of the Wo r l d Health Organization Scientific Group (1997). The most frequent disorders were IgA deficiency (832 registers) and common variable immunodeficiency (CVI) (430), followed by s e v e re combined immunodeficiency and predominantly T cell defects (282), complement deficiencies (256), X-linked agammaglobulinemia (91), IgG subclass deficiency (90) and chronic granulomatous disease (66). The cases of complement deficiencies were higher than the European Register due to the recent special collaboration of groups working with these diseases. Gammaglobulin replacement was the therapy in 696 patients, 553 of them belonging to antibody deficient grow up. Sixty-three bone marrow transplants were done. Important differences in the number of cases submitted from different areas in our country were found (AU)

Frecuencias alélicas de polimorfismos de genes de citocinas (IL1A, IL1B, IL1RN, IL6, IL10, IL12P40, e IFNG) en una población española / Allelic frequencies of polymorphic variants of cytokine genes (IL1A, IL1B, IL1RN, IL6, IL10, IL12p40, and IFNG) in a Spanish population

Variantes polimórficas de genes de citocinas están asociadas con susceptibilidad aumentada a padecer ciertas enfermedades inflamatorias y rechazo de trasplantes, sugiriendo un papel en su patogénesis. Si estos polimorfismos de citocinas tuvieran consecuencias funcionales, diferencias entre grupos de población tendrían relevancia significativa en diferentes enfermedades y en la evolución del trasplante. Para realizar este tipo de análisis es necesario conocer la distribución de las frecuencias de estos polimorfismos en la población sana normal. En este trabajo, describimos los métodos utilizados en nuestro laboratorio para genotipar individuos para interferón (IFNG), interleucina-10 (IL-10), IL-6, IL-1, IL-12 y el antagonista del receptor de IL-1 (IL-1RN). Se enseñan las secuencias de los oligonucleótidos y las condiciones de la reacción en cadena de la polimerasa (PCR). Hemos genotipado un único panel de caucásicos sanos del sur de Europa residentes en la isla de Mallorca y se muestran las frecuencias alélicas y genotípicas de nuestra población. Estas frecuencias no difieren de las descritas para otras poblaciones de caucásicos europeos. Por tanto, nuestros datos pueden ser útiles para estudiar polimorfismos de genes de citocinas en situaciones patológicas (AU)

Relative influence of age, resting heart rate and sedentary life style in short-term analysis of heart rate variability.

In order to assess the relative influence of age, resting heart rate (HR) and sedentary life style, heart rate variability (HRV) was studied in two different groups. The young group (YG) consisted of 9 sedentary subjects aged 15 to 20 years (YG-S) and of 9 nonsedentary volunteers (YG-NS) also aged 15 to 20. The elderly sedentary group (ESG) consisted of 16 sedentary subjects aged 39 to 82 years. HRV was assessed using a short-term procedure (5 min). R-R variability was calculated in the time-domain by means of the root mean square successive differences. Frequency-domain HRV was evaluated by power spectrum analysis considering high frequency and low frequency bands. In the YG the effort tolerance was ranked in a bicycle stress test. HR was similar for both groups while ESG showed a reduced HRV compared with YG. Within each group, HRV displayed a negative correlation with HR. Although YG-NS had better effort tolerance than YG-S, their HR and HRV were not significantly different. We conclude that HRV is reduced with increasing HR or age, regardless of life style. The results obtained in our short-term study agree with others of longer duration by showing that age and HR are the main determinants of HRV. Our results do not support the idea that changes in HRV are related to regular physical activity.

Relative influence of age, resting heart rate and sedentary life style in short-term analysis of heart rate variability

In order to assess the relative influence of age, resting heart rate (HR) and sedentary life style, heart rate variability (HRV) was studied in two different groups. The young group (YG) consisted of 9 sedentary subjects aged 15 to 20 years (YG-S) and of 9 nonsedentary volunteers (YG-NS) also aged 15 to 20. The elderly sedentary group (ESG) consisted of 16 sedentary subjects aged 39 to 82 years. HRV was assessed using a short-term procedure (5 min). R-R variability was calculated in the time-domain by means of the root mean square successive differences. Frequency-domain HRV was evaluated by power spectrum analysis considering high frequency and low frequency bands. In the YG the effort tolerance was ranked in a bicycle stress test. HR was similar for both groups while ESG showed a reduced HRV compared with YG. Within each group, HRV displayed a negative correlation with HR. Although YG-NS had better effort tolerance than YG-S, their HR and HRV were not significantly different. We conclude that HRV is reduced with increasing HR or age, regardless of life style. The results obtained in our short-term study agree with others of longer duration by showing that age and HR are the main determinants of HRV. Our results do not support the idea that changes in HRV are related to regular physical activity