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Biomedical subjects

S S Papiha

Publications and source records attributed to S S Papiha.

At least 73 records · Page 4Linked to original sources
PubMed1988

Genetic markers in Sjögren's syndrome: the question of its genetic heterogeneity.

Genetic factors may be implicated in the causation of Sjögren's syndrome (SS) as shown by familial clustering of the disease and certain HLA associations. Non-HLA genetic markers in SS have not previously been studied in detail. In this study of 122 unrelated patients with various categories of SS and 104 control subjects, 29 genetic markers were studied (11 blood groups, 5 serum proteins and 13 red-cell enzymes). Almost all systems showed a considerable range of gene frequency among the various subgroups of patients with SS but only a few attained statistical significance (C3 and GPT). Multivariate (kinship) analysis, however, showed clear distinction between the subgroups of SS, suggesting that they are genetically distinct entities.

Alleles↗
PubMed1988

Differentiation of autoimmune ophthalmopathy from Graves' hyperthyroidism by analysis of genetic markers.

Graves' hyperthyroidism and dysthyroid eye disease are closely related autoimmune conditions. Whether the eye disease is an integral part of Graves' disease or a separate entity is controversial. To investigate this we have examined the genetic associations of ophthalmopathy and hyperthyroidism, and compared their phenotype and gene frequencies with a control normal population. HLA-A, B, and DR antigens were typed in 67 patients with dysthyroid eye disease (GO), 60 hyperthyroid patients without significant eye disease (HT) and 500 normal subjects. Patients were also typed for a variety of other genetic markers: blood group systems (10), serum proteins (6) and red cell enzyme systems (10). Increased frequency of B8 and DR3 in Graves' disease was confirmed; B17 occurred less frequently and appears to be protective. HLA antigen frequencies for GO did not differ from HT. The MNS blood group showed a significant association with Graves' disease, the HT patients having a deficit of the s gene compared with controls. The most interesting finding was an increased frequency of blood group P in GO patients compared with either HT or controls. Significant differences were not seen with any of the other HLA antigens, blood groups, protein or enzyme markers considered individually. Multivariate analysis applied first to the HLA and then to the non-HLA systems indicated clear separation of the two patient groups. Although Graves' eye disease shares the same HLA associations as hyperthyroidism, it differs in the increased frequency of P blood group, suggesting that additional genetic factors may determine which patients with Graves' disease develop ophthalmopathy.

Autoimmune Diseases↗
PubMed1988

DNA polymorphisms, identified by an X-chromosome short-arm probe L 1.28 (DXS7), in different racial groups.

Restriction fragment length polymorphisms of the L1.28 probe which is closely linked to X-linked disorders, retinitis pigmentosa and Norrie disease, were studied in samples from England, India and Nigeria. The frequency of the A2 allele (9-kb fragment) was 0.23, 0.55 and 0.46 in England, India and Nigeria, respectively. The differences between the English and Indian populations were highly significant.

Alleles↗
PubMed1988

HLA antigens in the Uitoto Indians and an urban population of Colombia.

One hundred individuals from the city of Bogota and 32 Uitoto Indians from the Colombian Amazonia were HLA-typed. The results showed that the two populations differ significantly in the frequencies of the alleles A28, B15, B39, Bw51, Cw2, Cw3 and DRw52. In general, the Uitoto Indians resemble, in their histocompatibility antigens, other Latin-American Indians so far studied.

Colombia↗
PubMed1987

A case of disputed maternity.

It has been alleged that two Gujarati Muslim boys are not the sons of the woman who brought them to the United Kingdom, claiming them to be her sons. The father has recently died, but blood samples from the mother and her four daughters (whose parentage is not in doubt) allowed the paternal genotype to be deduced. Samples were tested for 9 blood-group systems (12 gene loci), 9 red-cell-enzyme systems, 6 serum protein types, 2 HLA loci, and 5 X-chromosome probes. There was no evidence of non-maternity of the two boys in any of these systems. The odds that the woman who claims to be the boys' mother, rather than any random Gujarati Muslim woman, is indeed the mother of the older boy are fourteen million to one, and that she is the mother of the younger boy five million to one.

DNA↗
PubMed1987

PGI*3(Israel), a new, unstable allele in the phosphoglucose isomerase system.

Phosphoglucose isomerase (PGI) and 16 other biochemical genetic markers were studied in an Israeli-Arab family previously described for hereditary deficiency of adenylate kinase (AK) and glucose 6-phosphate dehydrogenase (G6PD). In this inbred family a rare PGI*3 allele was observed in 11 of 32 members tested, indicating an autosomal codominant inheritance. The electrophoretic mobility of this allele is similar to that of the PGI*3 allele found in Indian populations, but unlike the Indian allele, it has a very low specific activity and heat stability. This PGI*3 allele, designated PGI*3 (Israel), seems to be a different unstable mutation and along with AK and G6PD deficiencies seems to be associated with severe anaemia.

Alleles↗
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-A, B, DR and Bf allotypes in patients with idiopathic membranous nephropathy (IMN).

Fifty-five adult biopsy-proven patients with idiopathic membranous nephropathy were examined for HLA-A, B and DR antigens, and for the Bf allotypes. The phenotype frequencies of HLA-DR3 (52 vs. 23%) and HLA-B8 (46 vs. 24%) showed a significant increase in the IMN patient group compared to those of controls from the same region. The supraphenotype in which the combination of DR3-B8 alleles in Bf SS homozygotes occurred was significantly more common in the patient group than in the controls. A subset of six individuals carrying antigens DR3, B8, and common Bf*S alleles was identified, and the clinical course of those patients was found to be significantly worse compared to the rest of the patients. The present results do not support the existing suggestion that the clinical course of these diseases in Caucasians is determined by antigens B18 and the rare Bf allele (Bf*F1). It seems likely that IMN is not a single disease but a renal lesion that can result from several combinations of genetic predisposition and environmental stimuli.

Adult↗
PubMed1987

Bf and C3 polymorphisms in rheumatoid arthritis.

Properdin factor B (Bf) and complement C3 polymorphisms were studied in 225 unrelated rheumatoid arthritis (RA) patients from North-East England. Patients were subdivided on the presence or absence of significant titres of rheumatoid factor and antinuclear factor. No association with the C3 system was detected. For the Bf system, a significant excess of Bf SS and deficiency of Bf FS phenotypes was observed in seropositive RA patients lacking antinuclear antibodies. This finding suggests that auto-antibody-defined subgroups of RA may be genetically heterogeneous with respect to Bf and confirms the status of Bf SS phenotype as a marker for RA susceptibility and/or severity.

Antibodies, Antinuclear↗
PubMed1987

Group-specific component (Gc) subtypes in the Indian subcontinent.

From populations of the Indian subcontinent Gc subtypes were investigated in 14 socio-culturally diverse groups. The tribal populations showed a greater differentiation at this locus than the caste and Muslim groups. This marked difference between tribal populations is likely to be due to their breeding structure and historical affiliation, although a possible effect of natural selection cannot be ruled out.

Alleles↗
PubMed1987

Relationship between serum immunoglobulin G and alpha-fetoprotein levels during human pregnancy.

The immunoregulatory processes operating during pregnancy that allow the survival of the semiallogeneic conceptus are at present far from understood. alpha-fetoprotein (AFP) is a biological component of the body produced in high amounts during pregnancy mainly by the fetal liver, and in certain clinical pathological states. The biological function of AFP is still unknown, but some investigators postulate an immunosuppressive role for the protein during pregnancy. In this study, serum immunoglobulin G, M and A levels of 101 gravidas at different stages of gestation (26 from 11-14 weeks, 37 from 32-34 weeks and finally 38 from 38-40 weeks) were determined and compared to 57 age matched nonpregnant females. Before being included in the study, patients were checked for various conditions which potentially alter immunoglobulin and AFP serum levels. Maternal serum samples showed a significant decreased concentration of immunoglobulin G (IgG) as compared to non-pregnancy serum samples (table I). AFP levels were also quantitated in the pregnancy sera and correlated with immunoglobulins levels. A strongly negative correlation between AFP and IgG was found throughout gestation (table II). When gestational age was fixed and the partial coefficients of correlation calculated, the inverse correlation persisted. In addition, the relationship between AFP and IgG at the various periods of gestation (11-14 weeks, 32-34 weeks and 38-40 weeks), calculated in order to detect where the association was stronger, revealed significant and uniform negative correlations (table III).(ABSTRACT TRUNCATED AT 250 WORDS)

Female↗
PubMed1986

C3 and Bf complement types in chronic renal failure.

C3 and BF allele frequencies were studied in 55 patients with idiopathic membranous nephropathy (IMN) and unrelated normal individuals from North-East England. Eighteen of these IMN patients progressed to renal failure and C3*S allele showed a significant increase in these patients. A possible mechanism for this increase is briefly discussed.

Alleles↗
PubMed1986

Inhibition of mitogen and allogeneic stimulated lymphocyte growth by human amniotic fluid: lack of correlation between alpha-fetoprotein level and in vitro immunosuppression.

The influence of human amniotic fluid from women at 16-18 wk gestation on the in vitro proliferation of human peripheral lymphocytes stimulated with various mitogens (PHA, Con A and PWM) and with allogeneic cells in the one- and two-way mixed lymphocyte reaction (MLR) was studied. It was seen that amniotic fluid inhibits nonspecifically the responsiveness of the various subpopulations of cells induced to proliferate. It was also demonstrated that the suppression depends on the concentration of the immunosuppressive agent(s), since diluted amniotic fluids showed less inhibitory capacity. In order to detect a possible immune action for alpha-fetoprotein (AFP), the levels of the protein in the amniotic fluid supplemented cultures were correlated with the inhibitory properties of the fluids. No correlation was encountered, indicating that AFP is not mainly responsible for the in vitro immunosuppressive properties of human amniotic fluid on the in vitro test of cell-mediated immunity here utilized.

Amniotic Fluid↗
PubMed1986

Genetic structure of the population with rheumatoid arthritis in north east England: a genetic approach to define different subtypes.

Clinically and immunologically rheumatoid arthritis (RA) is possibly a heterogeneous disorder. Despite numerous efforts clearer definition of this heterogeneity has been of limited success. Measurements of rheumatoid factor (RF) and antinuclear antibodies (ANA) by conventional methods define subpopulations of patients with RA and in a few recent studies an association of human leucocyte antigens (HLA) undoubtedly indicates the immunogenetic differences in the susceptibility of RA patients with different status of autoantibodies. The studies on a few isolated non-HLA genetic markers in RA are controversial. To understand the role of genetic factors in susceptibility 24 single gene characters other than HLA were investigated in 225 patients with RA classified by humoral status (presence or absence of RF and ANA) into three groups and in 104 healthy control individuals from the north east of England. Locus by locus comparison suggested associations of MN, Lewis, and Bf system with RF positive patients. Although the associations with MN and Lewis blood groups require further investigations, the involvement of the Bf locus is in agreement with the immunological component of the disease suggested by HLA associations and it could be due to the phenomenon of linkage disequilibrium. Measures of genetic distance applied to the subpopulations of patients with RA, divided according to the presence or absence of humoral factors, suggest that RF+ ANA+, RF- ANA-, and RF+ ANA- subgroups are distinct genetic diseases, each affecting a different subsection of the population which is genetically distinct. Such genetic heterogeneity may suggest a different pathogenetic mechanism for each of these subpopulations of rheumatoid arthritis.

Antibodies, Antinuclear↗
PubMed1986

C3 variants and disease.

The distribution of C3 variants in dermatitis herpetiformis, thyroid cancer, spinal muscular atrophy, multiple sclerosis and psoriasis was studied, and also the Bf phenotype distribution in thyroid cancer. In thyroid cancer there was a significant deficit of heterozygotes for the C3 locus, a possible decrease in the C3F allele frequency and a significant elevation of frequency of the BfF allele. The possible involvement of these alleles in susceptibility to thyroid cancer appears worth further examination.

Alleles↗
PubMed1986

Relationship between some obstetric landmarks and the concentration of alpha-fetoprotein in maternal blood.

Alpha-fetoprotein (AFP) quantitation in maternal blood has been used for prenatal diagnosis of anencephaly, spina bifida and some other congenital abnormalities. The levels of AFP in pregnancy serum are greatly dispersed within each gestational period, what makes the test of difficult interpretation mainly in border line cases. The factors which contribute to this variability are still poorly understood. They must act either on the synthesis or catabolism of the protein, or on the permeability of the fetal-maternal barrier. In an attempt to elucidate some of these factors, the levels of AFP in serum of 89 women at 32 to 34 weeks gestation and of 115 women at term were measured by radioimmunoassay and related to several obstetric variables such as parity, pregnancy number, 1 - minute Apgar score, smoking habit and sex of newborn. It was seen that parity and pregnancy number do not correlate with the levels of AFP in pregnancy serum. Smokers, particularly those who smoke more than a pack per day, however, had higher levels of the protein in their blood. The interpretation of these data should take into consideration the fact that smoking causes vasoconstriction and important vascular alterations similar to the ones encountered in diabetic angiopathy. It is possible that an increased microvascular permeability of placenta and/or membranes to proteins of the size of AFP from the fetus to maternal circulation may explain the greater levels of the protein in serum of smokers.(ABSTRACT TRUNCATED AT 250 WORDS)

Apgar Score↗
PubMed1986

Genetic differentiation among Iranian Christian communities.

From some 500 members of Christian communities in Iran (Armenians and Assyrians from six localities), blood specimens were obtained and examined for a number of blood group, red cell enzyme, and serum protein systems. The results indicate the relatively closed nature of the Christian community as a whole but that moderate differentiation has already occurred among the local groups. One factor in this diversification process that can be distinguished is the effect of urbanization in Tehran, but otherwise it seems to be largely random.

Blood Group Antigens↗