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Biomedical subjects

T Cohen

Publications and source records attributed to T Cohen.

At least 127 records · Page 7Linked to original sources
PubMed1982

Histocompatibility (HLA) antigens and multiple sclerosis in Israelis.

The association of A3, B7 and Dw2 histocompatibility (HLA) markers with multiple sclerosis (MS) is well established among North Europeans and Whites in the United States, but is apparently not universal. We previously showed that the incidence of A3, B7 and Dw2 was not higher among Israelis with MS. An association of A3 and B7 was also lacking in Italian, Jordanian and Japanese groups with MS. Recently, the HLA-DR antigen DR2 was shown to have a stronger association with MS than do A3 and B7. Conceivably, DR2 could be associated with MS even in populations where an association with A3 or B7 is lacking. Therefore, a study of DR antigens was carried out in 45 carefully defined Israeli MS patients and in matched control subjects. No significant association between MS and DR antigens was found. We conclude that the association between HLA antigens and MS is specific only to certain populations or particular regions. The implications of this observation on the role played by HLA antigens in the etiopathogenesis of MS is discussed.

HLA Antigens↗
PubMed1982

Familial aggregation of total cholesterol, triglyceride and high-density lipoprotein-cholesterol in an Israeli population sample.

An analysis of factors involved in the determination of cholesterol, triglyceride and high-density lipoprotein-cholesterol (HDL-C) variables is presented. The Jerusalem Lipid Research Clinic tested a population sample of 3,118 youngsters aged 17 to 18 yr and their parents. In 233 of these families, another sibling was examined at age 17 to 18 yr. Analysis was performed after adjustment of fasting lipid variables for age and sex effects. Since the Israeli population is heterogeneous, the families studied were classified by the parents' country of birth into four groups in which both parents had originated from the same country and one group in which each parent had originated from a different continent. Father-mother correlations for plasma lipid variables were relatively high in parents born in the same country and low in those from different continents. This result could be due to common genetic factors or perhaps to environmental factors shared by parents in early life. The midparent-child correlations were higher for cholesterol and HDL-C in all four groups where parents originated from the same country and lower in the heterogeneous group, but these differences were not statistically significant. The parent-child correlations for total cholesterol and HDL-C were between 0.21 and 0.32, and for triglyceride between 0.09 and 0.20. Sib-sib correlations were significantly positive for all three plasma lipids measured. Although mother-child correlations were stronger than those for father-child, this difference was only significant for HDL-C. The estimated heritability coefficients were between 0.30 and 0.54 for cholesterol and HDL-C and lower for triglyceride. These results provide evidence for familial aggregation of plasma cholesterol, triglyceride and HDL-C in an Israeli population, and they indicate that much of the variation in lipid variables can be explained by genetic factors.

Adolescent↗
PubMed1981

Laryngeal web, congenital heart disease and low stature. A syndrome?

Congenital laryngeal web, congenital heart disease, and low stature occurred in a 23-year-old woman. The patient was a member of a family in which several members were similarly affected. This triad of congenital anomalies is a syndrome that has not been previously reported. The pattern of inheritance of this syndrome is compatible with an autosomal dominant gene.

Adult↗
PubMed1981

Genetic polymorphisms among Iranian Jews in Israel.

Iranian Jews represent a very ancient Jewish community with a high frequency of inbreeding. A sample of Iranian Jews, mainly unrelated students, was tested for genetic markers of red blood cells and serum. The frequency of glucose-6-phosphate dehydrogenase deficiency was not uniform among Jews who had lived in different areas of Iran; it was lower among those from central Iran (6.7%) than in those from southern and western Iran (16.7% and 20.6%, respectively). The frequencies of B, CDe, cDE, S, and K alleles were among the highest recorded in Jewish ethnic groups. Iranian Jews were similar to Iraqi Jews with respect to the frequencies of the blood markers B, CDe, cde, cDe, ACP, PGM1, ADA, and Hp; however, the B and CDe markers occur with similar frequencies among indigenous Iranians. The presence of the cDe allele and the Gm1,5,13,14,17 haplotype in low frequencies indicates black admixture. Mongoloid admixture is indicated by the polymorphism of the Gm1,13,15,16,17 haplotype. The very rare phenotype Gm(3,5,13,14,17) was observed in 4.8% of 167 individuals tested. This phenotype has not been previously observed among Jews.

Blood Group Antigens↗
PubMed1981

Genetics of insulin dependent diabetes mellitus in Israel: population and family study.

The association between insulin dependent diabetes mellitus (IDDM) and the HLA system was studied in two groups of Jewish patients: 50 Ashkenazim and 42 non-Ashkenazim. The pattern of association of HLA-A and B locus antigens was somewhat different from that observed in European Caucasian patients. HLA-B8 had a higher frequency; B15 and Cw3 were rare in the population studied and were less frequent in IDDM patients than in controls. On the other hand, the frequency of A26, B18, and Bw38 was increased in Ashkenazi patients, but not in non-Ashkenazim, who in turn showed an increase for Bw51. Although the association between IDDM and HLA-A and B locus antigens shows a marked variability in different populations, the association with HLA-DR3 and DR4 is constant feature. There was a typical excess of DR3/DR4 heterozygotes in both patient groups. This heterozygote type carries the highest relative risk, followed by DR4/DR4 homozygotes. These data can well be interpreted by a model of two different HLA-linked susceptibility genes, one associated with DR3 and the other one with DR4, that interact so that different genotypes are associated with different levels of penetrance. This model received further support from studies in 15 multiple case families where there is an excess of affected sib pairs sharing two DR antigens.

Adolescent↗
PubMed1981

HLA in a selective aldosterone biosynthetic defect due to type 2 corticosterone methyl-oxidase deficiency.

HLA phenotypes were studied in nine Jewish families, originating from Iran, with 18 individuals affected with a selective aldosterone biosynthetic defect and 12 healthy siblings. This disorder is inherited through an autosomal recessive gene and parents were consanguineously related in eight out of nine sibships. Family analysis showed that 18 affected individuals carried 20 different haplotypes and only two patients were homozygous for a haplotype. Yet a peak lod score of 1.128 was obtained for the recombinant fraction of 0.05 and thus linkage to HLA cannot be ruled out.

Aldosterone↗
PubMed1981

Histocompatibility determinants in Israeli Jewish patients with coeliac disease: population and family study.

The association between HLA and coeliac disease (CD) was studied in the Jewish population of Israel. A total of 112 patients were typed for HLA-A,B,C antigens, including 67 patients whose families were typed in order to deduce the genotypes. Forty-seven patients were typed for HLA-DR antigens. The HLA-A,B,C data show a pattern of association, which is similar to that found in European CD patients: HLA-B8 is increased, although to a lower degree; a suggestive, insignificant increase for Aw30, B13 and Cw6 and a decrease of Bw35 were noted. The DR antigens DR3 and DR7 are associated with CD in the Jewish population. An excess of DR3/DR7 heterozygotes was noted. The data from family and population studies support a model in which two different HLA-DR associated genes are interacting.

Celiac Disease↗
PubMed1981

HLA and alopecia areata in Jerusalem.

A study of 46 patients with Alopecia areata in Jerusalem showed a significant increase in the frequency of HLA-B18 (23.9%) as compared to the control population (7.4%) with a relative risk of 3.9%. This association of HLA-B18 with AA was independent of the origin of patients, sex, age of onset and type of alopecia areata.

Alopecia Areata↗
PubMed1981

Paraganglioneuroma of the duodenum. Report of a case with radiographic findings, angiographic findings and a review of the literature.

A 59-year old Cuban male had seven episodes of gastrointestinal bleeding. Angiographic and radiographic studies revealed a polypoid mass in the second portion of the duodenum. The mass proved to be paraganglioneuroma. A review of the literature reveals only 25 previously recorded such cases. Eighty-eight per cent of the lesions were located in the second part of the duodenum: 84% of the patients were symptomatic. The two main symptoms noted were abdominal discomfort (45.5%) and bleeding (47.6%). None of the lesions was a malignant or functional tumor.

Adult↗
PubMed1980

Genetic studies on Cochin Jews in Israel: 1. Population data, blood groups, isoenzymes, and HLA determinants.

The period in which Jews were first associated with Cochin and the Malabar coast was by tradition, after the destruction of the First Temple (586 BCE). Yet, the earliest evidence of Jewish settlements is from the tenth century CE. The largest group of Cochin Jews are the "Black Jews," of whom about 4,000 live in Israel. A high frequency of consanguineous marriages prevailed among Cochin Jews. Their mean height and weight were low when they came to Israel in 1954; an increase in both was observed 20 years later. Some of the allele frequencies of blood groups, isoenzymes, and HLA antigens were similar to those in other Jewish communities. In the high O, M, cde, and HLA-A28 and the low cDE allele frequencies Cochin Jews resembled Yemenite Jews. A few allele frequencies, the high Fya, AK2 and the low Jka and Hp1, were similar to those observed in indigenous southern Indian populations. In most HLA antigen and haplotype frequencies the Cochin Jews showed a distribution similar to that observed in other Jews and Caucasoids. No comparable HLA data on southern Indian populations were available. The results indicate that Cochin Jews have similarities with Jews, in particular Yemenite Jews, and with the indigenous populations of southern India.

Anthropometry↗
PubMed1980

Genetic studies on Cochin Jews in Israel: 2. Gm and Inv data--polymorphism for Gm3 and for Gm1,17,21 without Gm(26).

Serum samples from 223 Jews from Cochin, India were tested for Gm(1,2,3,5,6,13,14,17,21,26) and for Inv(1). Certain samples were also tested for Gm(15) and Gm(16). The Cochin Jews are polymorphic for: 1) Gm3, a haplotype that does not lead to the formation of gamma 3, as was shown by tests of the serum of a homozygote, and 2) Gm1,17,21, a haplotype lacking Gm(26), which is ordinarily present in this haplotype. The Gm data indicate considerable admixture with southern Indians. There is no evidence for African admixture, such as has been found for all other Jewish populations studied thus far. The Inv data are similar to those for other Jewish populations.

Female↗
PubMed1980

Amniotic 17-alpha hydroxyprogesterone and HLA typing for the prenatal diagnosis of 21-alpha hydroxylase deficiency--congenital adrenal hyperplasia.

We have investigated a family with one child affected with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Prenatal determination of 17-alpha hydroxyprogesterone (17OHP) in amniotic fluid (AF) and HLA typing of amniotic fibroblasts from a pregnancy at risk showed that the fetus was not affected. A healthy cousin with HLA haplotypes identical to those of the proposita (only one being identical by descent) had a normal plasma level of 17OHP. The prenatal diagnosis of a fetus affected with 21-hydroxylase deficiency CAH may be established by the determination of 17OHP in AF. This is a relatively quick procedure that can be confirmed by the HLA genotype, and is mandatory in families with a parent homozygous for an HLA haplotype and in certain recombinant haplotypes in the fetus.

Adrenal Hyperplasia, Congenital↗
PubMed1980

HLA-DRw4 in pemphigus vulgaris patients in Israel.

Pemphigus vulgaris (PV) is relatively common in Jews. Three HLA antigens were significantly more frequent in 39 Israeli Jewish PV patients than in controls A26 - 59% vs 20%; Bw38 - 61% vs 20%; and DRw4 - 90% vs 38%. The joint occurrence of A26-Bw38-DRw4 was observed in 46% of PV patients and in 10% of controls. Similar results were recently reported for Jews in the Los Angeles area. Yet, when our patient sample was grouped into Ashkenazi and non-Ashkenazi Jews, it was evident that each of the three antigens had a higher frequency both in Ashkenazi patients and controls as compared to non-Ashkenzai. The relative risk for DRw-4 in Ashkenzim was 33.8 as compared to 14.4 in the total sample of Israeli PV patients. The phenotype A26-Bw38-DRw4 was present in 57% of Ashkenazi patients and in 13% of controls. Ashkenazi Jews have the highest prevalence of PV, and HLA associations were strongest with Ashkenazi PV patients. These associations were with three antigens, all of high frequency in that group.

Female↗
PubMed1980

Disputed parentage due to exchanged babies solved by HLA.

Two female newborns were suspected of having been exchanged. Each baby was tested for blood groups ABO, Rh and MN; for isoenzymes ADA, AcP1, GLO, PGM1, AK1 and for Hp; and for HLA-A and B phenotypes. In family 1 the baby girls was excluded on the basis of ADA, GLO, PGM1, AK1, Hp and HLA phenotypes. In family 2 the baby girl was excluded on the basis of Rh, PGM1, Hp and HLA phenotypes. Yet the phenotypes of each girl did fit with the parents of the other family. The odds for the babies to belong to the other families were 6.9 X 10(5):1 and 2.5 X 10(6):1. It could be seen that the odds obtained by HLA testing were much higher, usually by two or more orders of magnitude than those of each of the other marker systems. This makes the HLA an excellent single test for the resolution of disputed parentage. The odds of the simultaneous occurrence of 2 children each assigned to the other family was calculated to be 1.7 X 10(12):1.

Blood Grouping and Crossmatching↗