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Biomedical subjects

J Hors

Publications and source records attributed to J Hors.

At least 145 records · Page 8Linked to original sources

HLA and longevity.

One hundred fifty-five healthy nonagenarians, 45 men and 100 women, all French Caucasians, were phenotyped for alleles of the A, B, C, DR loci of the HLA complex. The observed HLA antigen frequencies were compared to those of a control series of 133 males and 179 females whose ages ranged from 10 to 50 years. When comparing the total young and elderly series, no significant differences were observed with respect to HLA antigen distribution or heterozygosity at any of the loci. When taking sex difference into account, however, an excess of the Cw1 antigen was found in the group of elderly females (p less than 0.001) and an excess of the Cw7 antigen in the group of elderly males (p less than 0.001). Of particular significance was the fact that Cw7 belonged in this instance to a phenotypic combination (and most probably to the corresponding haplotype) A1/Cw7/B8/DR3 which was found significantly increased in male nonagenarians (p less than 0.001). These results support the hypothesis that certain HLA haplotypes are associated with survival advantage.

Adolescent↗

[HLA and susceptibility to malignancies].

From the large amount of data pertaining to a possible relationship between MHC and susceptibility to malignancies in humans, some significant findings emerge. 1. In population studies, HLA-A2 in ALL and A1 in Hodgkin's disease are observed significantly increased in frequency in comparison to the normal controls. Some significant associations with an HLA phenotype are also observed in several cancers. 2. HLA genotyping of familial cases of Hodgkin's disease, with multiplex affected sibs, lead to the conclusions that an excess of HLA identical pairs are observed among the patients. This could indicate a linkage between the susceptibility gene and the HLA region. Another linkage might exist with familial malignant melanoma fitting with a dominant mode of transmission of the trait. These facts strongly support the role of the MHC among the polyfactorial and polygenic determinism of some malignancies. The mechanisms are discussed.

Complement System Proteins↗

[HLA markers in a Tunisian population].

HLA typing of 100 blood samples was carried out in an unrelated Tunisian population, chosen according to its aptitude in giving blood and therefore, in undergoing a complete medical examination. The results obtained show a strong similarity with those already recorded by H. Betuel and coworkers. Two haplotypes are in linkage disequilibrium; which are found in the Turks and the Sardinians.

Adult↗

Studies on an isolated West Indies population: I. Analysis of HLA genotypes.

The transmission of HLA genes was studied in an isolated population of French origin on the lesser Antilles islands in the West Indies. The study of 74 unrelated individuals, 44 of whom were genotyped, was carried out for the alleles of HLA loci: A, B, C and Bf (proactivator factor of properdin). As a result of the founder effect and the inbreeding process, the HLA haplotypes were noted to be less polymorphic than in a French continental population. Two haplotypes: A2, Cw5, B12, BfS and A3, C-, B14, BfF represent 24% of the observed haplotypes, and only 2% of the reference haplotypes in France. No significant excess or deficit of homozygotes was observed at the A and B loci.

Deafness↗

Bone marrow transplantation in 65 patients with severe aplastic anemia.

This articles summarizes the experience of the Hospital Saint-Louis Bone Marrow Transplantation Team of bone marrow transplantation in severe aplastic anemia. Sixty-five consecutive patients have been transplanted with an HLA identical sibling marrow. Various conditioning regimen have been used. Conditioning regimen using high dose Cyclophosphamide alone or associated with Procarbazine and anti-thymocyte globulin gave a high number of bone marrow graft rejection. Therefore, a conditioning regimen using Cyclophosphamide and total body irradiation with lung shielding has been used for the last three years. This regimen suppressed bone marrow graft rejection. The main problems remain graft versus host disease and intercurrent infections. Despite these complications, 50 per cent of the patients become long term survivors and are apparently cured of their initial disease.

Adolescent↗

HLA markers in patients suffering from aplastic anaemia.

135 patients, suffering from aplastic anaemia (AA) and their families were genotyped for HLA. The antigen and haplotype frequencies were compared to an HLA genotyped control panel composed of 209 normal couples and their healthy offsprings, and to another series of 2286 normal individuals. An excess of HLA-A2 was observed in the patients: 61% versus 42% (pc less than 0.001) (relative risk: 2) and versus 48.5% (p less than 0.01) in two control series, respectively. When considering the HLA-A, B antigens shared in common by the parents of the AA patients, an excess of HLA-A2 was observed: 32% as compared to 17% shared by normal couples (p less than 0.001). An excess of homozygous HLA-A2 was noted in the AA patients (14%) in comparison to the normal controls (4%) (p less than 0.001). The mechanism of this association is discussed as well as the hypothesis of a gene involved in haematopoiesis which might interact within the HLA-A region.

Anemia, Aplastic↗

HLA genotype studies in juvenile insulin-dependent diabetes.

HLA genotypes were ascertained in 53 French Caucasian families, comprising 68 juvenile onset insulin-dependent diabetic siblings. Among the 49 alleles detected at different loci in the HLA complex (A, C, B, Bf, DR) 4 appeared to occur at a significantly higher frequency among the 53 index cases than in a control series of 116 healthy individuals: HLA-B18 (p < 10(-3)), DRw3, DRw4 and BfF1 (p < 10(-6)). The excess of HLA identical affected siblings confirms genotype disequilibrium and supports the hypothesis of an HLA-linked gene(s) conferring susceptibility. There was no increase of homozygosity for HLA DRw3 and DRw4 whereas there was a marked excess heterozygosity for HLA DRw3/DRw4 in diabetic patients (32% versus 0% in the control series, p < 0.001). These data provide evidence for the existence of two cooperating genes, linked to each of the HLA DR alleles.

Alleles↗

HLA-A, B, C, DR alleles in congenital adrenal hyperplasia.

HLA markers (A, B, C, DR loci) were determined for the members of 52 unrelated families with at least one child suffering from congenital adrenal hyperplasia due to 21 hydroxylase deficiency, permitting genotyping. The gene frequencies of the 52 index cases were compared with those obtained from the patients' normal haplotypes and with those of a control reference panel. No significant differences were observed, except a clear decrease in the frequency of HLA-B8 among the haplotypes that carry the gene for congenital adrenal hyperplasia.

Adrenal Hyperplasia, Congenital↗

Application of the lod score method to detection of linkage between HLA and juvenile insulin-dependent diabetes.

The lod score method has been applied to 28 informative families with at least one child suffering from juvenile insulin-dependent diabetes (JIDD), assuming autosomal recessive inheritance, for detection of linkage between HLA and a susceptibility locus for this disease. These 28 families were pooled with 21 other families from the literature. The maximum lod scores were obtained for recombination fractions from 4 to 16%, according to the level of penetrance (10 to 90%). These high estimates of the recombination fraction are not in agreement with the hypothesis that the association between JIDD and specific HLA haplotypes is due to a simple linkage disequilibrium between the HLA region and a susceptibility locus for JIDD.

Chromosome Mapping↗

Is the strength of single HLA antigen mismatch variable in kidney transplant survival?

The survival rate among 458 cadaver kidney grafts with "full-house" four HLA-A,B antigens detected in the donor, three being identical to those of the recipient and only one mismatched, was studied specifically in relation to antigen incompatibility. At the A locus, the A3 incompatibility was associated with a lower transplant survival (44% at 2 years) than all of the others, and particularly more than the A11 (80% at 2 years) (P less than 0.003 but without significance after correction multiplying by the number of tested alleles). At the B locus, there was no significant difference in survival rate among the alleles. These results are only preliminary and need confirmation based on longer series permitting possible cross-reactions which exit between donor and recipient antigens to be taken into consideration.

Alleles↗