SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Human haptoglobin (Hp) is a protein that binds free hemoglobin and circulates in plasma of vertebrates as a tetrachain (alpha beta)2 structure. This study maps HPA and HPB, the genes encoding the Hp alpha and beta chains to human chromosome band 16q22 by in situ hybridization.
The human adenine phosphoribosyltransferase gene (APRT) was mapped with respect to the haptoglobin gene (HP) and the fragile site at 16q23.2 (FRA16D). A subclone of APRT and a cDNA clone of HP were used for molecular hybridization to DNA from mouse-human hybrid cell lines containing specific chromosome 16 translocations. The APRT subclone was used for in situ hybridization to chromosomes expressing FRA16D. APRT was found to be distal to HP and FRA16D and was localized at 16q24, making the gene order cen-FRA16B-HP-FRA16D-APRT-qter.
Serum samples from 197 individuals belonging to the caste groups of Brahmin (37), Bania (39), Khatri (73) and Jat (48) were electrophoretically examined for the haptoglobin and transferrin systems. Intercaste variation was considered and comparisons made between these North Indian populations and those in other parts of the Indian subcontinent. A single Khatri individual was typed CB.
In a series of 109 Greek patients with breast carcinoma, a significant increase in the haptoglobin type 1-1 was observed.
Blood samples from 156 Jat Sikhs were examined for the ABO, MNS, Rhesus, Duffy and Kell blood groups. Serum and lysate samples were prepared and electrophoretically tested for haptoglobin, esterase D, adenylate kinase, phosphoglucomutase and the acid phosphatase systems. Comparisons were made with other populations of the Indian sub-continent and of contiguous regions.
A sample of 317 individuals living in Barcelona (Spain) has been examined in relation to the haptoglobin subtypes. The gene frequencies were: Hp1F = 0.142, Hp1S = 0.238, Hp2FF = 0.006, Hp2FS = 0.621 and Hp2SS = 0.002, with an Hp1S/Hp1 ratio of 0.627. The results have been compared with those found in other European populations.
The haptoglobin groups were studied in a material of 4,333 conscripts and blood donors from the counties of Norrbotten and V asterbotten in northern Sweden. According to their place of birth, the individuals were distributed into 23 subpopulations. In all subpopulations a good consistency with the Hardy-Weinberg equilibrium was found. In contrast to this finding, patients from the same population with immunogenetic disorders (psoriasis, allergy) were found to have a significant deficiency of heterozygotes. The frequency of the Hp1 gene showed significant variations between subpopulations (from 0.24 to 0.45) and the FST in V asterbotten county was high (9.0 x 10(-3)). The variations were, however, not interpretable in terms of ethnic heterogeneity. The results indicate that random processes, most likely 'the four effect', have had a profound effect on the structure of the North-Swedish population.
Haptoglobin (Hp) has been used in association studies with unipolar depression and has led to investigations on the possible association of Hp genotypes with disease. Because of the reported association between the Hp-2 allele and depression we phenotyped 65 elderly patients with unipolar depression and 40 elderly individuals without mental disorders. We failed to find an association between either of the Hp alleles and unipolar depression. The Hp2 gene frequencies for the depressed patients and the comparison group were 0.585 and 0.550, respectively, and these values were not significantly different. Both values were within the gene frequency range reported for Caucasian populations.
Six different serum group systems (Bf, C3, Gc, Hp, Pi and Tf) were studied in a series of patients from northern Sweden with abdominal aortic aneurysms. In the haptoglobin system an increased frequency of the Hp 2-1 type was observed among the patients. No association was found between abdominal aortic aneurysms and the other five serum group systems.
Haptoglobin groups were studied in 100 leukemia patients and controls. Previously reported associations with Hp1-1 and the Hp1 gene by other investigators were not confirmed. In agreement with a previous observation a significant increase of ahaptoglobinemia (Hp0) was found among the leukemia patients.
Haptoglobin (Hp) groups were determined in 65 patients with dementia of Alzheimer type (DAT) and 74 with multi-infarct dementia (MID). The increased Hp1 gene frequency among patients with DAT described by other investigators could not be confirmed in this study. The patients showed no significant difference from the controls with respect to phenotype and gene frequencies, and there were no significant differences between early and late onset cases of DAT.
Haptoglobin and transferrin types were examined in Eti-Turks. The Hp1 frequency was 0.26. With the exception of two individuals with transferrin D, only the transferrin C was observed. The gene frequencies were in the range of most of the Asiatic populations including Turks.
In order to investigate the association between the haptoglobin (Hp) and ABO groups described by others, Hp types and ABO blood groups were studied in 4,370 conscripts and blood donors from the counties of Västerbotten and Norrbotten in Northern Sweden. In the population of Norrbotten county, the Hp1 gene frequency was significantly higher in blood group A than in the other blood groups combined, while in the Västerbotten population there was no significant association. The result lends some support to the previous findings of an association between Hp and ABO.
Haptoglobin types were determined in 200 patients with rheumatoid arthritis (RA) subdivided according to sex and familial occurrence of polyarthritis. A highly significant excess of the Hp2 gene was found among patients with a family history of polyarthritis, more pronounced among males. The possible association between Hp2 and predisposition for increased immune reactivity is discussed.
Previous investigations of the association of haptoglobin (Hp) with dementia of the Alzheimer type (DAT) have reported contradictory results. In the present study, we phenotyped 69 patients clinically diagnosed as having DAT and, for comparison, 64 cognitively intact individuals. We failed to find a significant association between either of the Hp alleles and DAT. Instead, we observed a nonsignificant decrease in the Hp-1 gene frequency in the DAT population (0.34) as compared to our normal elderly comparison group (0.41).
Haptoglobin groups were investigated in 309 patients with primary lung cancer divided by sex, smoking habits and tumor type. Patients with squamous epithelial cancer and oat-cell cancer showed no significant difference from normal controls. Among patients with pulmonary adenocarcinoma the frequency of the Hp 2-2 type was significantly (p less than 0.05) lower compared to the controls, with a corresponding increase of the Hp 1-1 and Hp 2-1 types. This difference was more pronounced (p less than 0.025) among females with pulmonary adenocarcinoma.
Ten different population groups of Assam - Brahmins, Kalitas, Kaibartas, Rajbanshis, Muslims, Ahoms, Chutias, Kacharis, Karbis and Sandwals - have been typed for haptoglobin and for transferrin (Tf) and Gc subtype polymorphisms. Tf and Gc allele subtype frequencies show a considerable inter-population heterogeneity. From genetic distance analysis it appears that the populations under study form some distinct clusters, which can be explained by the historical and ethnic affiliations of these populations. Especially the distribution of Gc subtype alleles reveals some Mongoloid admixture among Assamese populations, which is reflected by the presence of Gc1A8 alleles in them.
Haptoglobin (Hp) subtypes were analysed by two-dimensional high-resolution gel electrophoresis in 81 Norwegian individuals with moderate hypercholesterolemia and in 316 Norwegian control subjects. The frequencies of the genes Hp2SS and Hp2SF were higher in individuals with hypercholesterolemia than in controls but the differences did not reach statistical significance (p = 0.087). Within the control population, no effect of the different Hp subtypes was found on total serum cholesterol, triglycerides or high-density lipoprotein (HDL) cholesterol. However, in the controls a significantly higher frequency of Hp2-2 types was found among those with HDL cholesterol values in the upper quartile as compared to those with HDL cholesterol in the lower quartile. A similar phenomenon was not uncovered in analyses of total serum cholesterol or triglycerides. Our results are in agreement with others which indicate that genes belonging to the Hp polymorphism play a role in predicting an individual's total serum cholesterol level. However, our data indicate that the cholesterol effect is on the HDL rather than on the total cholesterol level.