HLA-DRB1∗0405 is the Predominant Allele in Brazilian Patients With Vogt-Koyanagi-Harada Disease

1998 ◽  
Vol 59 (3) ◽  
pp. 183-188 ◽  
Author(s):  
A.C Goldberg ◽  
J.H Yamamoto ◽  
J.M Chiarella ◽  
M.L.C Marin ◽  
M Sibinelli ◽  
...  
Keyword(s):  
Genetics ◽  
1993 ◽  
Vol 135 (1) ◽  
pp. 171-187 ◽  
Author(s):  
W van der Loo

Abstract Population genetic data are presented which should contribute to evaluation of the hypothesis that the extraordinary evolutionary patterns observed at the b locus of the rabbit immunoglobulin light chain constant region can be the outcome of overdominance-type selection. The analysis of allele correlations in natural populations revealed an excess of heterozygotes of about 10% at the b locus while heterozygote excess was not observed at loci determining the immunoglobulin heavy chain. Data from the published literature, where homozygote advantage was suggested, were reevaluated and found in agreement with data here presented. Gene diversity was evenly distributed among populations and showed similarities with patterns reported for histocompatibility loci. Analysis of genotypic disequilibria revealed strong digenic associations between the leading alleles of heavy and light chain constant region loci in conjunction with trigenic disequilibria corresponding to a preferential association of b locus heterozygosity with the predominant allele of the heavy chain e locus. It is argued that this may indicate compensatory or nonadditive aspects of a putative heterozygosity enhancing mechanism, implying that effects at the light chain might be more pronounced in populations fixed for the heavy chain polymorphism.


2020 ◽  
Vol 28 (3) ◽  
pp. 147-151
Author(s):  
Neha Sharma ◽  
Devinder Toor ◽  
Lokajeet Baro ◽  
Mriganka S Chaliha ◽  
Giriraj Kusre ◽  
...  

Background Rheumatic heart disease is a major global health concern, especially in low- and middle-income countries. The pathogenesis is attributable to an aberrant immune response, host genetic factors, and socioeconomic status. The objective of this study was to screen HLA-DQB1 alleles as genetic susceptibility markers in rheumatic heart disease patients in Assam, North East India, and to correlate the predominant allele with socioeconomic status and clinical profile. Methods A case-control study of 100 echocardiography-confirmed rheumatic heart disease patients and age- and sex-matched healthy controls from Assam Medical College and Hospital was conducted. Human leukocyte antigen typing was performed using HLA-DQ typing kit. A questionnaire was designed to study the socioeconomic status and clinical profile of rheumatic heart disease patients. Results Among the 9 alleles studied, HLA-DRBQ1*03:01 was found to be the statistically significant predominant allele in this population, especially in the Ahom ethnic group. In the HLA-DRBQ1*03:01-positive population, rural dwelling was found to be a significantly increased risk factor for rheumatic heart disease. Among severe cases, 90% of mitral stenosis, 40% of mitral regurgitation, and 33.3% of aortic regurgitation cases were HLA-DRBQ1*03:01-positive. Also, 50% of aortic valve thickening and 36.8% of mitral valve thickening cases were found in this population. Conclusion Our data suggest that HLA-DRBQ1*03:01 is a significant susceptibility marker in this population, and predominant in the rural population. Furthermore, it may play an important role in determining the pattern of valve damage in rheumatic heart disease patients.


2004 ◽  
Vol 20 (6) ◽  
pp. 309-312 ◽  
Author(s):  
Fatma Savran Oguz ◽  
Lale Ocal ◽  
Ali Sarper Diler ◽  
Hilmi Ozkul ◽  
Faruk Asicioglu ◽  
...  

The frequency and the distribution of HLA-B27 subtypes in spondylarthropathy (SpA) patients and controls were investigated in a sample Turkish population. B27 subtyping was performed by PCR-SSP method in two groups: 49 unrelated HLA-B27 positive Turkish patients with the diagnosis of SpA according to the European Spondyloarthropathy Study Group Criteria, and 55 HLA-B27 positive healthy controls. The frequency of HLA-B∗27 was 2.6% in the Turkish population, and B∗2705 was the predominant allele among patients with SpA. The difference was mainly between male patients and male controls The proportion of B∗2705 among B27-positive patients and controls was significantly different (P = 0.02). Our study supports other reports from different populations which showed that B∗2705 and B∗2702 were more frequent in Caucasian patients with SpA.


2010 ◽  
Vol 2010 ◽  
pp. 1-6
Author(s):  
Shengping Hou ◽  
Yuming Chen ◽  
Jie Liang ◽  
Li Li ◽  
Tongshan Wu ◽  
...  

Imprinted in placenta and liver (IPL) gene has been identified as an imprinted gene in the mouse and human. Its sequence and imprinting status, however, have not been determined in the domestic pigs. In the present study, a 259 base pair-specific sequence forIPLgene of the domestic pig was obtained and a novel SNP, a T/C transition, was identified inIPLexon 1. The C allele of this polymorphism was found to be the predominant allele in Landrace,Yorkshire, and Duroc. The frequency of CC genotype and C allele are different in Duroc as compared with Yorkshire (P=.038andP=.005, resp.). Variable imprinting status of this gene was observed in different developmental stages. For example, it is imprinted in 1-dayold newborns (expressed from the maternal allele), but imprinting was lost in 180-day-old adult (expressed from both parental alleles). Real-time PCR analysis showed the porcineIPLgene is expressed in all tested eight organ/tissues. The expression level was significantly higher in spleen, duodenum, lung, and bladder of 180-day-old Lantang adult compared to that in 1-day-old newborns Lantang pigs (P<.05). In conclusion, the imprinting of the porcineIPLgene is developmental stage and tissue specific.


2017 ◽  
Vol 292 (3) ◽  
pp. 611-617 ◽  
Author(s):  
Babak Emamalizadeh ◽  
Abofazl Movafagh ◽  
Hossein Darvish ◽  
Somayeh Kazeminasab ◽  
Monavvar Andarva ◽  
...  

2011 ◽  
Vol 29 (1) ◽  
pp. 249-260 ◽  
Author(s):  
Irene Gallego Romero ◽  
Chandana Basu Mallick ◽  
Anke Liebert ◽  
Federica Crivellaro ◽  
Gyaneshwer Chaubey ◽  
...  

1992 ◽  
Vol 89 (6) ◽  
pp. 2277-2281 ◽  
Author(s):  
A. V. Hill ◽  
C. E. Allsopp ◽  
D. Kwiatkowski ◽  
T. E. Taylor ◽  
S. N. Yates ◽  
...  

Genetics ◽  
1983 ◽  
Vol 104 (3) ◽  
pp. 497-512
Author(s):  
Naoyuki Takahata

ABSTRACT A formula for the variance of gene identity (homozygosity) was derived for the case of neutral mutations using diffusion approximations for the changes of gene frequencies in a subdivided population. It is shown that when gene flow is extremely small, the variance of gene identity for the entire population at equilibrium is smaller than that of the panmictic population with the same mean gene identity. On the other hand, although a large amount of gene flow makes a subdivided population equivalent to a panmictic population, there is an intermediate range of gene flow in which population subdivision can increase the variance. This increase results from the increased variance between colonies. In such a case, each colony has a predominant allele, but the predominant type may differ from colony to colony. The formula for obtaining the variance allows us to study such statistics as the coefficient of gene differentiation and the correlation of heterozygosity. Computer simulations were conducted to study the distribution of gene identity as well as to check the validity of the analytical formulas. Effects of selection were also studied by simulations.


Animals ◽  
2020 ◽  
Vol 10 (3) ◽  
pp. 475 ◽  
Author(s):  
Rong Fu ◽  
Tuanhui Ren ◽  
Wangyu Li ◽  
Jiaying Liang ◽  
Guodong Mo ◽  
...  

Golgin subfamily B member 1 (GOLGB1) gene encodes the coat protein 1 vesicle inhibiting factor, giantin. Previous study showed that mutations of the GOLGB1 gene are associated with dozens of human developmental disorders and diseases. However, the biological function of GOLGB1 gene in chicken is still unclear. In this study, we detected a novel 65-bp insertion/deletion (indel) polymorphism in the chicken GOLGB1 intron 5. Association of this indel with chicken growth and carcass traits was analyzed in a yellow chicken population. Results showed that this 65-bp indel was significantly associated with chicken body weight (p < 0.05), highly significantly associated with neck weight, abdominal fat weight, abdominal fat percentage and the yellow index b of breast (p < 0.01). Analysis of genetic parameters indicated that “I” was the predominant allele. Except for the yellow index b of breast, II genotype individuals had the best growth characteristics, by comparison with the ID genotype and DD genotype individuals. Moreover, the mRNA expression of GOLGB1 was detected in the liver tissue of chicken with different GOLGB1 genotypes, where the DD genotype displayed high expression levels. These findings hinted that the 65-bp indel in GOLGB1 could be assigned to a molecular marker in chicken breeding and enhance production in the chicken industry.


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