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Results for “HLA-B14 Antigen”

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At least 19 recordsLinked to original sources
PubMed1976

Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.

The frequency of HLA-A3 and HLA-B14 antigens was significantly higher in a series of 51 patients with idiopathic haemochromatosis than in a control group, being respectively 78-4 versus 27-0% and 25-5 versus 3-4%. This finding strongly supports the suggestion that idiopathic haemochromatosis is a genetic disease and suggests that the gene(s) responsible for the disease may be linked to the histocompatibility genes.

Adult↗
PubMed1990

[Clinical significance of HLA phenotype in childhood tuberculosis].

According to HLA system (loci A, B, C, DR), examination findings of 171 children aged between 1 and 15 years with different clinical manifestations of primary tuberculosis (including 49 with a pulmonary type of tuberculosis in different stages of inflammation, 46 with osteoarticular lesions of tuberculous etiology and 76 with generalized forms of tuberculosis) indicate a significant rise in the incidence of HLA-B7, B14 antigens. Moreover, the incidence of HLA-B14 antigen increases sharply as the degree of clinical manifestations and severity of inflammatory changes become more evident. In intrathoracic adenopathy, the presence of HLA-DR, DR2 antigens seems to promote earlier clinico-roentgenologic manifestations and a more serious course of an inflammatory process. In combined osteoarticular processes of specific etiology, an increase in the incidence of HLA-DR5, DR7 antigens is significant. The most evident drop in the immune T-system indices is traced in subjects bearing HLA-DR2 antigen. The given fact makes it possible to proceed on the assumption that genetically controlled immune response factors play a certain role in pathogenesis of tuberculosis.

Adolescent↗
PubMed1992

The preexcitation syndrome: epidemiological and genetic study.

A sample of 4210 subjects of both sexes aged 35-54 years was examined, chosen at random from six regions of Croatia. An electrocardiogram at rest was performed in all subjects and changes analyzed by the Minnesota code. A short P-R interval together with a widening QRS complex and a delta wave was found in 0.05%, while 42 (1.0%) of the examinees had a short P-R interval, but only 0.21% were symptomatic. Three years after the first examination 0.06% of the subjects had preexcitation with a delta wave, and in one subject it appeared after three years. 0.35% of the subjects had a short P-R interval after three years but only 0.18% were symptomatic and in 22 (0.65%) it had disappeared in three years. After 13 years these subjects did not appear for an examination, and the short P-R interval did not appear in any of other subjects during this period. There were more short P-R intervals: 3.22% in females and 1.96% in males, but 0.33% only were symptomatic. Antigens of the human leukocyte group A (HLA) system were analyzed in 46 patients: the Wolff-Parkinson-White syndrome was found in 35, while 11 had the Lown-Ganong-Levine syndrome. Antigens of the HLA-A, HLA-B and HLA-DR locuses were determined by the microlymphocytotoxicity method. The results of the frequency of HLA system antigens were compared to the results of the control group of a Croatian population consisting of 175 people. There was an increased frequency of HLA-A9 and HLA-B5 (P = 0.026 and 0.0092) in the investigated population as a whole. The participation of HLA-A3 antigen was significantly less among patients (P = 0.03), while HLA-B14 antigen was not found in patients with preexcitation. Within 10 HLA-DR locuses, HLA-DR7 antigen was rather more frequently present, although this was not statistically significant (P = 0.173).

Adult↗
PubMed1990

An update on the frequency of nonclassic deficiency of adrenal 21-hydroxylase in the Yugoslav population.

Nonclassic steroid 21-hydroxylase deficiency is an attentuated adrenal enzyme defect that is commonly the basis of hyperandrogenic syndromes. Inherited as an autosomal recessive trait, it is known to occur with high frequency in the general population and with increased frequency in a number of ethnic groups, including the Yugoslav population. Following expansion of the original data on 21 families in Croatia to a total of 49 Croatian and Serbian families, we establish that this enzymatic disorder is increased in this Slavic population and provide an updated estimate for the gene frequency of 0.092 (0.035-0.149). Also in keeping with earlier reports, we continue to note the absence of association between nonclassic 21-hydroxylase deficiency occurring among Yugoslavs and HLA-B14; DR1.

17-alpha-Hydroxyprogesterone↗
PubMed1992

Hormonal profiles in Italian late-onset adrenal hyperplasia correlate with HLA class III polymorphisms.

To investigate the genetic polymorphisms of the HLA region in late-onset adrenal hyperplasia, 13 Italian patients affected by the disease were analyzed for: (1) HLA-A and -B typing; (2) restriction fragment length polymorphism (RFLP) of DR beta, DQ beta, DQ alpha, 21-hydroxylase A and B genes; (3) fourth complement fraction loci A and B (C4A and C4B), second complement fraction (C2) and properdin B factor (Bf) complement typing; (4) hormonal characteristics associated with some HLA haplotypes. HLA alleles B14 and DR beta 1 were found to be significantly more frequent in patients with respect to controls (relative risk: 8.7 and 7.2, p less than 0.001 and p less than 0.0001, respectively). Also C4B*2, 1 duplication was more frequent in patients than in normal subjects (23% vs. 1.5%, p less than 0.0001). Moreover, patients carrying a duplicated C4B (as well as those having the B14 antigen) showed higher 17-hydroxyprogesterone levels after ACTH stimulation. RFLP analysis of 21-hydroxylase genes with a specific probe revealed a duplication of 21-hydroxylase A gene in 40% of patients. All these individuals carried the C4A*2 B*2,1 phenotype and 75% of them displayed a clearly recognizable duplication at the C4B locus. These data support the hypothesis that in late-onset adrenal hyperplasia the 21-hydroxylase A pseudogene, even if inactive, may play a negative role in the regulation of 21-hydroxylase biosynthesis. Furthermore, we suggest analyzing class III phenotypes to screen the enzymatic defect.

17-alpha-Hydroxyprogesterone↗
PubMed1977

[HLA system and rhizomelic pseudopolyarthritis].

26 HLA antigens of the loci A and B were studied in 50 patients with pseudo-polyarthritis and in 300 control subjects without any joint disease. The arthritis was isolated and not associated with temporal arteritis. An increase in frequency of both HLA antigens was noted in the patients studied: HLA-B5 = 24% as against 13% in controls (P = 0.05 and Pc NS). HLA-Bw38 = 18% as against 5.33% in controls (p = 0.002 - Pc = o.05). The rise in frequency of HLA-B5 and HLA-Bw38 was also found in 19 subjects with polyarthritis and temporal arteritis but not in 31 patients with temporal arteritis alone. In this disease, a link with the HLA-B14 antigen was noted in 50 cases (22.9% as against 8.6% in control). These results suggest that arthritis and temporal arteritis although sometimes associated are probably distinct diseases.

Aged↗
PubMedDate not supplied

New findings in cluster headache.

The clinical profile of cluster headache, in Italy better known as "Horton's histaminic headache" is described. The Author makes an inventory of all pathogenetic theories about this excruciating pain syndrome that strikes men more than women. On the basis of findings of the Author and his School over a ten-year period, there is a "periodic lack of immunitary oversee". The salient points of various stages of this study are: low frequency of HLA-B14 antigen with, in contrast, high frequency of the HLA-DR5 antigen of the major histocompatibility system. The HLA B18 antigen of the same major histocompatibility system has been found in patients who respond to lithium therapy. A lack of the HLA-B18 antigen has been found in cluster headache patients who are "non-responders" to lithium therapy. Low titers of antibody response in the pain free periods of these subjects, and high titers in the painful periods has also been found in the serum of cluster headache patients; the lack of alpha 1-antitrypsin in basal conditions; increase of IgE (PRIST) values in painful periods; high titers of C1qSp and KgBt circulating immuno-complexes. The cellular immunity studies of the patients showed an increase of the leukocyte subpopulations Leu7+ and Leu M3+. Besides, the natural killer function that contributes to the defense-mechanism against viral disease, was very low. High titers of anti-herpes simplex 1 and 2 viruses and anti-Epstein-Barr virus have been found in cluster headache patients and in a few observations of Burkitt's lymphoma with associated cluster headache, studied in Sahel area too.(ABSTRACT TRUNCATED AT 250 WORDS)

Adrenal Cortex Hormones↗
PubMed1990

[Possibility of the development of non-transfusion hemosiderosis in beta-thalassemia, caused by association with HLA-linked hemochromatosis].

The data of HLA-haplotyping were used as an allele marker controlling hereditary hemochromatosis in 23 patients with beta-thalassemia. The results obtained have permitted a conclusion that hemosiderosis in patients with beta-thalassemia may be caused by association of beta-thalassemia gene with hereditary hemochromatosis. Early diagnosis of hyperferremia is of great prognostic importance as the adequate treatment timely conducted can prevent the development of irreversible changes in the patients.

Adolescent↗
PubMed1978

HLA antigens in gouty patients.

Lymphocytes from 26 patients with primary gout were typed for eighteen antigens from A and B loci. An increased "relative risk" of the disease was established in patients carrying antigen HLA-B14, but the correlation is not sufficient for using HLA typing as a diagnostic tool in the gout. Nevertheless HLA-B14 seems to be one of the genetic factors which predispose to the appearance of the articular lesions.

Adult↗
PubMed1991

Abnormalities of 21-hydroxylase gene ratio and adrenal steroidogenesis in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to acute adrenal stimulation.

One to 2% of hyperandrogenic women demonstrate a 17-hydroxyprogesterone (17-HP) level greater than 36.3 nmol/L (1200 ng/dL) after acute ACTH-(1-24) adrenal stimulation, consistent with 21-hydroxylase (21-OH) deficient late-onset adrenal hyperplasia (LOAH). The following study was undertaken to endocrinologically and genetically define hyperandrogenic patients with an exaggerated 17-HP response to ACTH stimulation, and which do not represent LOAH. Of 265 consecutive patients suffering from hirsutism and/or hyperandrogenic oligomenorrhea, 23 (8.7%) demonstrated a 17-HP level 30 min post stimulation greater than 9.6 nmol/L or 316 ng/dL (the upper 95th percentile in 41 eumenorrheic nonhirsute healthy control women). Seven patients or five separate families (1.8% of total) demonstrated poststimulation 17-HP levels consistent with LOAH. Of the remaining 16 patients, the net increment in 17-HP (delta 17-HP0-30) was within normal limits in seven (2.6%) and these women were assumed to have a normal 17-HP adrenocortical response superimposed on an elevated basal level of nonadrenal (e.g. ovarian) origin. In the remaining nine hyperandrogenic patients (3.4%) various abnormalities of adrenal response were noted in all but one patient, consistent with adrenal hyper-responsiveness. One patient demonstrated an 11-deoxycortisol poststimulation level greater than 3-fold the upper 95th percentile of normal, consistent with 11-hydroxylase LOAH and was excluded from further study. Six of these women were available for further genetic characterization, all Caucasian and unrelated. Three were heterozygotes for HLA-B14, three for B40, and one for B35 antigen, HLA-types associated with the inheritance of 21-OH deficiencies. Although, normally there are two 21-OH genes (a pseudogene and a functional gene) present in a 1:1 ratio, we have previously reported a high frequency of 21-OH gene ratio abnormalities in LOAH. All but one of our patients demonstrated an abnormal 21-OH gene ratio. In conclusion, 3.4% of our hyperandrogenic population demonstrated an exaggerated 17-HP increment after ACTH stimulation, not consistent with LOAH or increased extraadrenal 17-HP production. The increased prevalence of HLA alleles known to be linked to inherited defects of 21-OH function and the increased frequency in 21-OH gene ratio abnormalities suggest that a majority of these individuals may be carriers for these genetic disorders. However, the adrenocortical abnormalities noted were more consistent with a generalized hyperreactivity of the adrenal to ACTH stimulation, than a specific enzyme deficiency, implying that carrier status for 21-OH deficiency may be incidental to the hyperandrogenism.

17-alpha-Hydroxyprogesterone↗
PubMed1991

Association of four HLA class III region genomic markers with HLA haplotypes.

We have studied restriction fragment length polymorphism (RFLP) in the region 300 kb centromeric to the HLA-B locus. Four probes were used: one was genomic DNA derived from the tumor-necrosis factor (TNF)-beta gene, one was a cDNA for the BAT3 gene, and two single-copy genomic probes, R5A and M20A. The order of these markers from HLA-B towards the centromere is M20A, R5A, TNF and BAT3. The BAT3 and TNF-beta probes each detected two allelic bands with Taq I and Nco I digestion, respectively; the R5A and M20A probes each detected three polymorphic allelic bands with BstEII digestion. To determine if these restriction polymorphisms are preferentially associated with certain HLA-B and -DR haplotypes, a total of 153 HLA haplotypes was analyzed. The haplotypes A1, B8, DR3 and A3, B7, DR2 were each associated with a distinct combination of polymorphisms identified at these four sites, thereby demonstrating that the strong linkage disequilibrium characteristic of these haplotypes extends also to this segment of the class III region. In contrast, haplotypes that are not in positive linkage disequilibrium, such as A1,B8,DR4 and A2,B7,DR3, showed no preferential association with any of these polymorphisms. The antigens HLA-B27 and B35 were also found to be in positive linkage disequilibrium with RFLP patterns at three of these sites, and HLA-B14,B35,B44,Bw57 and Bw62 were found preferentially associated with polymorphisms at one or two of these sites, independent of the DR antigen present. These data further demonstrate that genetic linkage disequilibrium in the HLA class III region is complex and variable among different HLA haplotypes.

Chromosome Mapping↗
PubMed1991

Risk factors for bilateral testicular germ cell tumors. Does heredity play a role?

Twenty-three bilateral testicular germ cell tumors (four synchronous and 19 sequential tumors) were investigated for potential risk factors. The incidence of maldescensus testis was not found to be higher than in patients with unilateral disease. The histologic findings of the first tumor did not have any effect on the incidence of the second tumor. In 21 patients (four synchronous and 17 sequential tumors), histocompatibility antigens (HLA) were determined; HLA-B14 was increased significantly in the sequential tumor group. Tendencies toward an increase of HLA-DR5 and HLA-DR7 also were found. The HLA-DR1, HLA-DR3, and HLA-DR4 showed a tendency toward a decreased frequency. Therefore genetic factors might be important in the development of sequential bilateral testicular cancers.

Adult↗
PubMed1992

Do histocompatibility antigens influence the risk of head and neck carcinoma?

Associations were sought between specific histocompatibility antigens (HLA) of the human major histocompatibility complex and the incidence of head and neck squamous cell carcinoma (SqCC). Seventy sequential patients with SqCC and 217 control subjects from the same geographic region were typed for HLA-A, HLA-B, and HLA-DR loci. These results were compared. Multivariate statistical analysis using stepwise logistic regression revealed significant associations between the incidence of SqCC and HLA-B14, HLA-DR3, and HLA-DR4 as well as smoking and the sex-smoking interaction. The authors concluded that certain host factors, including genetic constitution, and behavioral characteristics (i.e., smoking) as well as tumor biology, can influence the development of SqCC. The mechanism(s) of these associations may involve as yet undefined relationships between HLA region genes and the immune response.

Carcinoma, Squamous Cell↗
PubMed1992

CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families.

A total of 33 Italian 21-hydroxylase (21-OH) deficiency families were investigated using a combination of short and long range restriction mapping of the CYP21/C4 gene cluster. The analyses revealed that large-scale length polymorphism in this gene cluster strictly conformed to a compound variable number of tandem repeats (VNTR) plus insertion system with between one and four CYP21 + C4 units and seven BssHII restriction fragment length polymorphisms (RFLPs) (75 kb, 80 kb, 105 kb, 110 kb, 135 kb, 140 kb and 180 kb). A total of 9/66 disease haplotypes, but only 1/61 non-disease haplotypes, showed evidence of gene addition by exhibiting three or more CYP21 + C4 repeat units. Of these, two were identified in one 21-OH deficiency patient who has a total of eight CYP21 + C4 units, being homozygous for the HLA haplotype DR2 DQ2 B5 A28. This haplotype carries four CYP21 + C4 units, three of which contain CYP21A-like genes and one of which contains a CYP21B-like gene that presumably carries a pathological point mutation. Of the other gene addition haplotypes associated with 21-OH deficiency, four show three CYP21 + C4 units flanked by HLA-DR1 and HLA-B14 markers. Although such haplotypes have commonly been associated with non-classical 21-OH deficiency, three examples in the present study are unexpectedly found in two salt-wasting patients, who are respectively homozygous or heterozygous for this haplotype. Only 7/66 disease haplotypes showed evidence of a CYP21B gene deletion.

Adrenal Hyperplasia, Congenital↗
PubMed1977

Haplotype analysis of the linkage group HLA-A:HAL-B:Bf and its bearing on the interpretation of the linkage disequilibrium.

The analysis of 650 HLA-A:HAL-B:Bf three-factor haplotypes revealed significant associations only between alleles of the very closely linked genes HLA-A and HLA-B, and Bf, respectively. Most striking is the highly significnat association of the rare Bf variant F1 with HLA-B18 and of S1 with HLA-B13, HLA-B14, and HLA-Bw21. Only random allele distributions were observed when considering the somewhat more distant genes HLA-A and Bf or the higher order interaction at all three genes. From these findings it seems likely that the linkage disequilibrium within the MHC is not due to selective forces, but rather due to a short evolutionary period.

Chromosomes, Human, 6-12 and X↗
PubMed1990

Efficacy of hepatic computed tomography to detect iron overload in chronic hemodialysis.

The diagnostic efficacy of hepatic computed tomography density (HCTD) in comparison with serum ferritin for the detection of iron overload was investigated in uremic patients on maintenance hemodialysis (HD) and in patients with idiopathic hemochromatosis (IHC). Ten IHC patients, 38 HD patients and 40 healthy subjects underwent the CT scanning of the liver and determination of percent saturation of transferrin, serum ferritin concentration and HLA typing. Liver iron content was determined by histochemical grading and direct measurement of liver iron concentration either in IHC patients or in HD patients. Nineteen HD patients were considered to have iron overload on the basis of liver iron concentration exceeding 3.6 mumol/100 mg dry weight. The mean +/- SD values of HCTD in healthy subjects, IHC patients, HD patients with iron overload and without iron overload were 60.2 +/- 5.6, 79 +/- 5.6, 71.4 +/- 3.6, 58 +/- 3.8 Hounsfield units, respectively. HCTD showed positive correlations with liver iron concentration and serum ferritin either in IHC patients or in HD patients. The analysis of the diagnostic efficacy of HCTD in comparison with serum ferritin for the detection of excessive hepatic iron in HD patients demonstrated that HCTD had higher sensitivity, specificity, positive and negative predictive values. Cut-off points were arbitrarily fixed to 66 Hounsfield units for HCTD, 400 micrograms/liter for serum ferritin and 3.6 mumol/100 mg dry weight for liver iron concentration. Seventeen HD patients who possessed the histocompatibility antigens associated with IHC, namely HLA-A3 and/or HLA-B7 and/or HLA-B14, had liver iron concentration, serum ferritin and HCTD values higher than those of the HD patients without these "hemochromatosis alleles".(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1977

HLA - frequencies in intermittent acute porphyria.

Tissue typing was performed in 20 patients suffering from intermittent acute porphyria using the lymphocytotoxicity test in a two-step method. The patients belonged to different families and were not related. Compared with the healthy population, and increased frequency of HLA-A10, HLA-A29, HLA-B13, HLA-B14 and HLA-B27 was observed, whereas HLA-A2, HLA-A3, HLA-A9, HLA-A11, HLA-A28 and HLA-BW15 had decreased frequencies. No conspicuous combination between particular HLA alleles was detected. Regarding the number of differences, a relationship between the patients due to a common ancestor must be considered.

Acute Disease↗