Polymorphisms of HLA DQB1 CAR1/CAR2 and TNFα IR2/IR4 Microsatellite Markers in Patients Affected with Graves Disease

Maalej, Aref; Kacem, Hassen Hadj; Bellassoued, M; Abid, M.; Makni, H.; Ayadi, Hammadi

doi:10.1006/clim.2000.4881

Cited by 6 publications

(2 citation statements)

References 20 publications

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“…In AT, the association with the HLA system is weaker and studies with those patients indicate that the HLA genes make only a small contribution to the overall genetic susceptibility to autoimmune thyroid disease [23,35]. Several genes outside the HLA system have been found to be associated with AT [35–37]. In our patient sample, there was a trend towards a decrease of the DR3 phenotype frequency which is in accordance with a previous report [38].…”

Section: Discussionsupporting

confidence: 88%

Autoimmune diseases in vitiligo: do anti-nuclear antibodies decrease thyroid volume?

Zettinig

Tanew²,

Fischer³

et al. 2003

Clinical and Experimental Immunology

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SUMMARYAn increased prevalence of autoimmune thyroiditis (AT) in vitiligo patients is well known. The aim of this study was firstly, to evaluate the clinical course of patients with both vitiligo and AT and secondly, to identify additional autoimmune disorders affecting the thyroid gland in a large cohort of vitiligo patients. We analysed a study group of 106 vitiligo patients and 38 controls. A detailed thyroid examination including sonography was performed in all study participants. In addition, the study participants were HLA typed and screened for various autoimmune disorders.AT was significantly more frequent in vitiligo patients than in controls (21% versus 3%; P < 0·01). In 12 of the 22 patients with AT, vitiligo was the initial disease preceding AT by 4-35 years. In the other 10 patients with AT, both vitiligo and AT were diagnosed within one year. There were two individuals with diabetes mellitus type 1 and a single patient with Addison's disease. Anti-nuclear antibody (ANA), anti-smooth muscle cell antibody, and parietal cell antibody levels occurred with a similar frequency in patients and controls. In all vitiligo patients with both elevated ANA levels and AT ( n = 6), the atrophic but not the goitrous variant was diagnosed. These vitiligo patients with both AT and elevated ANA levels had a significantly smaller thyroid volume compared to the vitiligo patients with AT whose ANA levels were normal (6·7 ± 4·5 ml versus 13·4 ± 9·1 ml, respectively; P < 0·05). The same was found in the entire study group: Thyroid volume of all vitiligo patients (with or without concomitant AT) was significantly smaller in the presence of ANA (6·9 ± 5·3 versus 10·5 ± 5·9 ml, espectively; P < 0·05). However, this phenomenon was not observed in the control group. There was a trend for a decreased frequency of HLA-DR3 (6·7% versus 23%) in our study group, but after correction for the number of comparisons, no HLA-allele was statistically significant associated neither with vitiligo nor with multiple autoimmune diseases in our patient sample. Our findings suggest that AT is the most frequent autoimmune disease associated with vitiligo. In our patients, AT presented simultaneously or after the onset of vitiligo but not before. Elevated ANA levels were associated with the atrophic variant of AT and may affect the volume of the thyroid gland, and there was no statistically significant association with the HLA system.

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Section: Discussionsupporting

confidence: 88%

Autoimmune diseases in vitiligo: do anti-nuclear antibodies decrease thyroid volume?

Zettinig

Tanew²,

Fischer³

et al. 2003

Clinical and Experimental Immunology

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“…In a Tunisian study assessing TNFa association with Graves disease [5], 14 alleles were typed in the Tunisian Healthy controls and TNFa2 was the most frequent allele (19.26%) followed by TNFa7 (14.53%) and TNFa6 (13.85%).…”

Section: Discussionmentioning

confidence: 99%

Genetic Polymorphisms at TNF Microsatellites from the HLA CLASS III Region in a South Tunisian Population

Mahfoudh¹,

Kamoun²,

Gaddour³

et al. 2014

OALib

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To evaluate the tumor necrosis factor (TNF) a-b-c microsatellite polymorphism in South Tunisia, we studied 123 healthy unrelated controls from South Tunisia. TNF microsatellite alleles were typed using genomic DNA amplified with specific primers. Statistical analyses were performed using ARLEQUIN software. The TNFa6 (18.9%), TNFa2 (16.4%), TNFb5 (41.9%), and TNFc1 (68.7%) were the most frequent alleles in our population, whereas the TNFa8 and TNFb2 were the least frequent alleles. To investigate the association among the three microsatellites, a detailed haplotype analysis was performed. 236 different haplotypes were possible but there was only 15 haplotypes had frequencies greater than 2%. In our population the most frequent haplotype TNFcab were "TNFc1a6b5" (10.03%). These results may be informative for studies of the associations of individual TNF region markers with secretion levels, immunity, and disease.

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Microsatellite genotyping of Chromosome 14q13.2-14q13 in the vicinity of proteasomal gene PSMA6 and association with Graves? disease in the Latvian population

et al. 2004

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The 270-kb chromosome 14q13.2-14q13 region harboring the proteasomal alpha subunit 6 gene PSMA6 was analyzed for polymorphism of five microsatellite repeats in cases/controls and association with Graves' disease. Four novel microsatellite markers were localized to the 14q13.2 region upstream of PSMA6. Dinucleotide repeats HSMS801, HSMS702, HSMS701 were identified in two introns of the gene KIAA0391; the most upstream trinucleotide HSMS602 marker was found in an intron of the C14orf24 gene. A polymorphism study performed on the Latvian population revealed 13 and 14 alleles for HSMS801 and HSMS702, respectively, seven alleles for HSMS701, and four alleles for HSMS602. Heterozygosity analysis revealed that all the four markers obey Hardy-Weinberg distribution. The previously described HSMS006 marker, represented by 12 alleles, is localized in intron 6 of the PSMA6 gene. No significant differences were observed between patients and controls in allele distribution of the HSMS702 and HSMS701 microsatellite repeats. However, the allele frequencies of HSMS006 and HSMS801 were significantly different between Graves' disease and control subjects. The 181- and 185-bp alleles of HSMS006 and the 133-, 143-, and 149-bp alleles of HSMS801 were found more often, but the 189- and 191-bp alleles of HSMS006 were much less frequent in Graves' disease patients compared with the controls. An additional 174-bp allele of the HSMS602 marker, absent in healthy subjects, was found in Graves' disease patients.

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Polymorphisms of HLA DQB1 CAR1/CAR2 and TNFα IR2/IR4 Microsatellite Markers in Patients Affected with Graves Disease

Cited by 6 publications

References 20 publications

Autoimmune diseases in vitiligo: do anti-nuclear antibodies decrease thyroid volume?

Autoimmune diseases in vitiligo: do anti-nuclear antibodies decrease thyroid volume?

Genetic Polymorphisms at TNF Microsatellites from the HLA CLASS III Region in a South Tunisian Population

Microsatellite genotyping of Chromosome 14q13.2-14q13 in the vicinity of proteasomal gene PSMA6 and association with Graves? disease in the Latvian population

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