Biomedical subjects
Publications and source records attributed to C Brautbar.
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.
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.
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.
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.
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.
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.
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HLA antigens of the A and B loci were determined in 57 Israeli patients with primary open angle glaucoma (POAG) presenting visual field loss and in 715 normal control subjects. The glaucoma patients and control subjects were non-related and randomly selected from the Jewish Israeli population. Frequencies of HLA antigens among the POAG patients showed no differences from those observed in the control subjects. Similar results were observed for all patients as well as within subgroups of the patient population as defined by origin. Thus, the association reported between B7 and/or B12 and POAG in white and black Americans could not be confirmed in an Israeli population.
The frequency of HLA-B5 in 24 Israeli Behçet disease (BD) patients from various subpopulations was significantly greater than in 615 control individuals (P less than 0.003). The relative risk for a B5 carrier to develop BD was calculated to be 5.0. Six patients were offspring of consanguineous marriages, which is not unexpected in the populations studied. Five of the patients had only one HLA-B antigen, which in four cases was B5. Two of the latter were B5 homozygotes, indicating a possible greater susceptibility. This study confirms the reported association between BD and HLA-B5 in a populationnot previously investigated. Furthermore, these data support the suggestion that B5 is associated with BD in populations deriving from the Mediterranean Basin, the Middle East and Far East.
One hundred and twenty seven randomly selected Polish Jews were studied for their HLA polymorphism. Gene frequencies exceeding 0.1 were detected for A1, A2, Aw19, B14, Bw16 and Bw17. Significant gametic association was observed for (A1, Bw17), (A2, B27), (Aw26, Bw16), (Aw19, B13) and (A28, B14). Although a predominantly Caucasoid population, the Polish Jews show greater resemblance to Middle Eastern rather than to Northern European Caucasoids.
HLA typing of 123 Israel Jews of Russian origin showed a high frequency for HLA--A1, A2, Aw19 and B14, Bw16 and Bw35 of the A and B loci, respectively. The most frequently occuring haplotypes were (A1, B17), (Aw25, B18), (Aw26, Bw16), (Aw19, B13), (Aw23, B5) and (Aw25, Bw35). This study reveals a striking resemblance in the distribution of frequencies of HLA alleles and haplotypes between Russian Jews and two other East European Jewish communities (presented in this issue) of Polish and Rumanian origin.
The frequencies of 29 HLA antigens of the A amd B loci were studied in 130 Israeli Jews originating from Rumania. The antigens A1, A2, Aw19 and B14, Bw16 and Bw35 occurred with the highest frequencies. The most common haplotypes were (A1, B17), (Aw26, Bw16) and (A28, Bw22). These results are similar to those observed in Polish and Russian Jews.
One hundred and forty one unrelated Moroccan Jews living in Israel were studied for their HLA polymorphism. Gene frequencies exceeding .1 were found for A1, A2, A3, Aw19, B5, B12, and B13. Significant linkage disequilibrium occurred for (A1, B8), (A2, B5), (A2, Bw21), (A3, Bw40), (A9, B7), (A10, Bw16), (A29, B18) and (Aw19, b14). they represent an intermediate population between Europe and the Middle East.
One hundred and twenty three Iraqi Jews, now living in Israel, were studied for their HLA polymorphism. Gene frequencies exceeding .1 were found for A1, A3, Aw19, B5, B12, and Bw35. A28, B8 and B14 were relatively rare whereas Aw25 and Bw37 were not found at all. Significant gametic associations occurred for (Aw23, Bw21), (Aw26, Bw16), (A11, B5), (A28, B8) and (A28, B7). The Iraqi Jewish population was found to be typical of Asiatics and Middle Easterners.
HLA gene frequencies in 11 Israeli populations and nine other relevant populations were used to calculate genetic distances in a quantitative assessment of their similarities and differences. The shortest distance found is between Polish and Rumanian Jews, while the largest is between Russian Jews and Black Africans. Estimates of "average" distances within major population groups suggest that the Ashkenazi Jews (Poles, Russians, Rumanians and Germans) are a more homogeneous population than East European non-Jews or than Middle-Eastern populations (Arabs, Armenians, Lebanese and Turks). A cline of distances between Ashkenazi Jews and other Jewish communities parallels their geographic distribution; however, the relatively large distance between the two North African communities (Libyans and Moroccans) demonstrates that geographic proximity is not necessarily correlated with genetic similarity. The Jewish populations, especially the Ashkenazi, show a clear divergence from their neighboring non-Jewish populations, among whom they have lived for many centuries. There are indications in the HLA data of a common origin for the diverse Jewish populations.
The distribution of 24 HLA antigens of the A and B loci was investigated in 197 Israeli Jewish patients with multiple sclerosis (MS) from various Jewish ethnic origins including central and eastern Europe, countries bordering the Mediterranean, the Middle East and from native-born Israelis. The results were compared with the HLA antigen frequencies in a control sample of 455 unrelated individuals representing the general Jewish population. The frequency of HLA-Bw40 among all MS patients (15%) was significantly greater (P less than 0.001) than among the controls (7%). In contrast to the findings in MS patients from other populations, there was no increased frequency of A3 and B7 and Dw2 was present in only one out of 28 patients. The study showed a similar distribution of HLA-A and -B locus antigens, especially of Bw40, in Jews of diverse ethnic origins represented in the control group.
The relationship between the major histocompatibility complex (MHC) and functional receptors on the surface of human lymphocytes was studied. HLA antisera were tested for their effect on the formation of E-, EA-, and EAC'-rosettes by human peripheral blood lymphocytes (PBL). Antisera to various HLA specificities inhibited the formation of EAC'-rosettes, but had no effect on the formation of E-rosettes. The formation of EA-rosettes was inhibited by HLA antisera only in part among the individuals tested. Anti beta2-microglobulin serum resembled HLA antisera in its effect on the formation of the various rosettes. HLA determinants and complement receptors are different entities on the cell surface since elimination of complement receptors by trypsin treatment does not seem to affect the expression of HLA antigens on the cell surface. It is suggested that EAC' receptors are located close to HLA determinants.
The distribution of 24 HLA antigens of the A and B loci was investigated in 38 Israeli ankylosing spondylitis (AS) patients of various ethnic origins. This was compared with the distribution in rheumatoid arthritis (RA) and osteoarthritis (OA), as well as in 456 controls representing the Jewish population and 260 controls representing the Arab population. Included in the study were Ashkenazi Jews and non-Ashkenazi Jews, as well as Moslem and Christian Arabs. The frequency of HLA B27 among AS patients (79 per cent) was significantly greater (P less than 10(-10)) than among the controls (three per cent). Ashkenazi Jews showed a higher relative risk than non-Ashkenazi Jews and Arabs. Six of the AS patients were offspring of consanguineous marriages, but this was not higher than expected and therefore no indication for rare recessive genes contributing to the disease could be demonstrated. This study confirms the association between AS and B27, and extends our knowledge to the heterogeneous population of Israel not previously investigated. A significant but weak association of B27 with RA was noted. No correlation of other HLA antigens with RA or OA was observed.