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Biomedical subjects

J Wentzel

Publications and source records attributed to J Wentzel.

At least 19 recordsLinked to original sources
PubMed1996

Reduced expression of HLA-B35 in schizophrenia.

The frequencies of HLA class I (HLA-A, B, C) and class II (HLA-DR, DQ) antigens were measured in 107 unrelated schizophrenic subjects and the results compared with 264 controls from south-east Scotland and a second control group of 133 individuals from north-east England. The expression of HLA-B35 was significantly reduced in the schizophrenic population compared to both control populations and these differences remained significant after correction for multiple testing. Linkage of schizophrenia and the major histocompatibility complex region of chromosome 6p was, however, excluded in a group of 17 families multiply affected with schizophrenia. Linkage was also excluded with several red cell antigens, red cell enzymes and plasma proteins. A negative association between the frequency of an HLA antigen and schizophrenia suggests that immune mechanisms may contribute to the aetiology of the disease in some subjects.

Adolescent↗
PubMed1996

Further evidence of genetic heterogeneity in hereditary hydronephrosis.

Hereditary hydronephrosis is a rare condition but several families are described in the literature. The inheritance pattern is autosomal dominant (McKusick number 143400) but the exact aetiology of the hydronephrosis is not clear. However, linkage with the HLA region on chromosome six has been shown previously. We report a family not showing linkage to this region, giving further evidence of genetic heterogeneity in this condition.

Adolescent↗
PubMed1992

Contribution of inherited factors to rheumatoid arthritis.

A total of 231 sibships of the same sex (186 female, 45 male), in which the proband had classical or definite rheumatoid arthritis (RA) have been selected from rheumatology clinics. Each sibship member was questioned about symptomatic joints, which were then examined. Hospital records, radiographs, and rheumatoid factor measurements allowed each sibling to be classified as having classical, definite, probable, or no RA. Each sibling was typed for HLA-A and B and was classified as sharing two, one, or zero HLA haplotypes with the proband. Concordance rates for classical and definite RA were three times greater in sibships of women than of men (9.3 v 3.0%). Concordance rates in HLA identical sibships were twice those in hemi- and non-identical sibships (15.5, 7.1, and 5.2%, respectively). Probable RA was more common in male and HLA hemi- and non-identical sibships. These results suggest that female sex and the two inherited HLA haplotypes are important for the presence and expression of RA. Although environmental factors may be shared more in twins than siblings, a concordance rate of 20.5% in seropositive HLA identical sibships of the same sex compared with 30% in monozygotic twins suggests that sex and HLA type account for about two thirds of the inherited risk of RA.

Arthritis, Rheumatoid↗
PubMed1992

Toneline bite mark photography.

In bite mark analyses, the initial photograph is critical for the collection and presentation of evidence. A high-contrast film technique previously used primarily in the graphic arts field has been refined and applied to forensic odontology. The process, called toneline, reduces the interpretational bias of the investigator and yields a transparent overlay with a photographic outline of the bite mark which can be directly compared with models of the suspect's teeth.

Bites, Human↗
PubMed1989

HLA antigens in three populations of India.

In blood samples from a Hindu population of Uttar Pradesh (North India) and from two Muslim groups, one from Andhra Pradesh (South India) and the other from Gujurat (West India), frequencies of 38 HLA-A, -B and -C antigens were investigated. Eight antigens - A23, A25, A29, A32, Bw45, B21, Bw22 and Bw53 - were absent in the Hindu population, four different antigens - A29, Bw52, B14 and Bw42 - were absent in Hyderabad Muslims, two antigens - A31 and Bw45 - were lacking in Surat Muslims. The three populations showed considerable genetic heterogeneity. The genetic difference between the two Muslim groups was small, but the Hindu population showed pronounced differences from each of the Muslim groups.

Gene Frequency↗
PubMed1987

Association of HLA and other genetic markers in South Indian patients with pulmonary tuberculosis.

Histocompatibility antigens (A, B & C loci) and 23 other single gene characters were studied in 204 pulmonary tuberculosis patients belonging to a single endogamous group in South India. None of the previously reported associations with HLA antigens was confirmed, nor any new one found. The blood O and Rh negative associations were also not confirmed, although a new association with the Jk blood group system appears possible. Of particular interest is the association with the phosphoglucomutase (PGM1) system, which parallels that found in a different population located some 1000 km away. Relative risks were calculated to measure the resistance of individuals with the PGM1*2+ allele.

Blood Group Antigens↗
PubMed1987

HLA (class 1 antigen) status and cell-mediated immunity in multiple sclerosis.

In vitro lymphocyte proliferation in response to allogeneic pooled cells, phytohaemaglutinin (PHA), and pokeweed mitogen (PWM), was measured in relation to HLA A, B and C status in 67 patients with clinically definite multiple sclerosis and in 67 age- and sex-matched controls. Analysis of covariance taking age into account showed significant effects only for A9 and B12 in controls and B27 and Cw3 in patients, fewer than would be expected by chance. It is concluded that HLA Class 1 status is not an important factor in regulating mitogen responsiveness.

Concanavalin A↗
PubMed1985

Human leukocyte antigens and circulating immunoglobulin levels in Indian patients with pulmonary tuberculosis.

Histocompatibility antigens (-A, -B and -C loci) and circulating antibodies (IgG, IgM, IgA and IgE) were studied in 63 pulmonary tuberculosis patients and regionally matched healthy volunteers from Uttar Pradesh, India. A previously described association with antigen B15 in an heterogeneous sample of North India was not confirmed but a slight increase of antigen B18 was found. The levels of immunoglobulins in the plasma of these patients showed a significant increase in IgG, IgA and IgE. Although the increased levels of IgG and IgA are in agreement with previous studies, the role of the increased IgE is not clear and needs further investigation. Patients who were antigen B14 and B18 positive tend to show significantly low levels of IgG, which suggests a possible genetic influence on the expression of immunoglobulin levels.

HLA Antigens↗
PubMed1985

HLA antigens in Hirschsprung's disease.

In 55 children with Hirschsprung's disease, 64 of their normal siblings and 120 other members of their families, HLA-A, B and C types were examined. The statistical significance of the raised incidence of A1, B14, B37 and Bw35 in the patients disappeared after correction for multiple testing. The levels of homozygosity were very similar in patients and normal controls. The results indicate no direct association of the disease with HLA type.

Child↗
PubMed1984

Multiple sclerosis, HLA, and lymphocyte surface markers.

The frequencies of lymphocytes of different types in the blood of 96 multiple sclerosis patients in different phases of the disease were examined by rosetting, in relation to the HLA antigens present. In the total series of patients, there is a significant deficit of A2, and this is also suggested in the active and progressive cases, but there is no evidence of association of particular HLA haplotypes with the different phases of the disease. There was little variation among the patient categories in the frequency of T cells of different types, but patients in relapse showed a higher proportion of cells showing surface IgG. In general, there is little association of cell surface markers with HLA type, but when B8 is present there appear to be fewer E and EAC rosettes in patients in exacerbation, fewer E and IgG surface markers in remission, and more of the IgG markers in progression.

Antigens, Surface↗
PubMed1983

HLA antigen frequency in the Koya tribe of Andhra Pradesh, India.

The frequencies of HLA-A, -B, and -C antigens were studied in a tribal population of Koya from Andhra Pradesh in southern India. No other well-defined tribal population has been studied with which the present results may be compared. However, the HLA profile of Koya showed distinct differences from the general HLA distribution in India in the frequency of a large number of antigens both at the A and B loci. This study indicates the distinctiveness of this tribal population and suggests the potential importance of the study of HLA frequencies in tribal groups of India.

Demography↗
PubMed1982

HLA and syringomyelia.

The HLA status of 53 patients with syringomyelia was assessed. Forty had an associated Chiari anomaly. A significant increase of HLA-A9 was found. Genetic factors may influence the development of syringomyelia.

Budd-Chiari Syndrome↗
PubMed1982

Congenital hypothyroidism and HLA.

HLA-A, B and C antigens tested in 97 patients treated for congenital hypothyroidism, and in members of their families, are compared with normal frequencies from 635 controls. After adjustment for the number of tests, there remains in the patients only a negative association with A11, with a relative risk of .190, and no significant association in the relatives. Patients show no excess homozygosity and no deviations in haplotype frequency. Congenital hypothyroidism thus appears to show a different relationship with HLA from other thyroid disorders.

Adolescent↗
PubMed1982

Genetic factors in puerperal affective psychoses.

The hypothesis that puerperal affective psychosis (PAP) is genetically related to manic-depressive disorder was tested by comparing the morbidity risks for puerperal and non-puerperal affective disorders in the relatives of 17 PAP subjects and 20 parous manic-depressives (PMD) with no history of puerperal illness. The risk for affective disorder (mania, depression or suicide) and puerperal affective disorder was the same in the two groups of relatives and the test hypothesis was accepted, although the sample size was small. The frequencies of HLA-A, B and C locus antigens, nine blood group antigens and 10 red blood cell isoenzymes were not significantly different in the PAP and PMD subjects, showing that in this series genetic markers do not distinguish puerperal from non-puerperal affective psychoses.

Adult↗
PubMed1981

Antinuclear antibodies and histocompatibility antigens in patients on long-term lithium therapy.

A survey of antinuclear factor, histocompatibility antigens, red blood cell groups and red blood cell isoenzyme variants is reported in 54 patients on long-term lithium therapy. Eleven patients with detectable antinuclear factor could not be distinguished from 43 patients without antinuclear factor using age, sex, diagnosis, previous medication, time on lithium or usual dose of lithium. The presence of antinuclear factor was not associated with any particular genetic marker.

Adult↗
PubMed1980

Léri's pleonosteosis.

Seven members of one family with Léri's pleonosteosis are reported. The abnormalities found provide further clarification of the clinical features of this rare inherited disorder. There was no evidence of genetic linkage between Léri's pleonosteosis and various parameters measured. We draw attention to the importance of recognizing this and similar rare inherited dystrophies, since the prognosis is good and inappropriate therapy should be avoided.

Adolescent↗