Immunogenetic association and thyroid autoantibodies in juvenile autoimmune thyroiditis in North India

Kanga, Uma; Tandon, Nikhil; Marwaha, Raman K.; Khanna, R.; Bhattacharya, Bhaskar; Singh, Sadhana; Kumar, Neeraj; Mehra, N. K.

doi:10.1111/j.1365-2265.2006.02511.x

Cited by 12 publications

(9 citation statements)

References 54 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Besides, they also observed that 42.3% of PCOS subjects had hypoechoic tissue pattern typical of autoimmune thyroiditis on USG in comparison to 6.5% in controls (P!0.001). Familial aggregation and genetic predisposition of these two apparently diverse disorders along with a recent study demonstrating high prevalence of serologic parameters of autoimmunity (anti-histone and anti-dsDNA antibodies) in women with PCOS may suggest the role of autoimmunity in the pathogenesis of PCOS (13)(14)(15)(16)(17)24). Similar findings supporting a potential link between PCOS and autoimmunity have been reported by two other groups (25,26).…”

Section: Discussionsupporting

confidence: 74%

“…High prevalence of CLT in Down's, and Turner's syndromes (12), and its association with the HLA DR3, DR5, and HLA DRB1*1404 genes (13,14) suggests that CLT may have a genetic contribution. Similarly, the evidence of a strong familial association in the first-degree relatives of PCOS subjects suggests a role of genetics in its etiopathogenesis, and several genes have been identified to date (15)(16)(17).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

High prevalence of polycystic ovary syndrome characteristics in girls with euthyroid chronic lymphocytic thyroiditis: a case–control study

Ganie

Marwaha

Aggarwal

et al. 2010

European Journal of Endocrinology

View full text Add to dashboard Cite

Objective: The aim was to find the prevalence of polycystic ovary syndrome (PCOS) phenotype in adolescent euthyroid girls with chronic lymphocytic thyroiditis (CLT). Design: This was a prospective case-control study as part of an ongoing community-wide thyroid survey in Indian schools. Methods: One hundred and seventy-five girls with euthyroid CLT and 46 age-matched non-CLT girls underwent clinical, biochemical, hormonal, and ultrasonographic evaluation for diagnosis of PCOS by Rotterdam 2003 criteria. All subjects underwent serum sampling for LH, FSH, testosterone, DHEAS, free thyroxine, TSH, and anti-thyroid peroxidase (TPO) antibodies. Oral glucose tolerance test (OGTT) was undertaken for plasma glucose and insulin. Results: Significantly higher prevalence of PCOS was noted in girls with euthyroid CLT when compared to their control counterparts (46.8 vs 4.3%, PZ0.001). The CLT girls had higher body mass index, waist circumference, and systolic blood pressure (PZ0.001). Mean number of menstrual cycles/year was 8.4G3.5 vs 10.1G1.4, and mean Ferriman-Gallwey score was 11.9G3.5 vs 3.0G2.4 (PZ0.001) in cases versus controls respectively. The fasting and postprandial glucose and serum cholesterol were also higher in the cases (PZ0.001). Homeostasis model assessment-insulin resistance was 4.4G4.2 vs 2.3G2.7 in the cases versus controls (PZ0.001). Conclusion: Higher prevalence of PCOS characteristics in euthyroid CLT girls when compared to controls suggest possible role of autoimmune phenomenon in the etiopathogenesis of PCOS. Further studies are required to understand the pathogenic link between these two disorders.

show abstract

Section: Discussionsupporting

confidence: 74%

Section: Introductionmentioning

confidence: 99%

High prevalence of polycystic ovary syndrome characteristics in girls with euthyroid chronic lymphocytic thyroiditis: a case–control study

Ganie

Marwaha

Aggarwal

et al. 2010

European Journal of Endocrinology

View full text Add to dashboard Cite

show abstract

“…A recent report regarding young Indian patients with autoimmune thyroiditis shows a strong disease association with the DRB1*1404–DQA1*0104–DQB1*05 haplotype (56). In another study in Brazilians, autoimmune atrophic thyroiditis is correlated to DRB1*04 and DQB1*03 (57).…”

Section: Discussionmentioning

confidence: 90%

Major histocompatibility complex class II (DRB1, DQA1, and DQB1) and DRB104 subtypes’ associations of Hashimoto’s thyroiditis in a Greek population

et al. 2009

View full text Add to dashboard Cite

Hashimoto's thyroiditis (HT) is an autoimmune disease resulting from complex interactions between genetic and environmental factors. The disease is associated with certain human leukocyte antigen (HLA) class II alleles in various populations. We aimed to determine in this study, for the first time in a Greek population, the association of HLA-DRB1*, -DQA1*, and -DQB1* alleles with HT. HLA-DRB1*, -DQA1*, and -DQB1* alleles' and -DRB1*04 subtypes' distribution was evaluated in 125 patients with HT and in 500 healthy control individuals by using a DNA-based sequence-specific primer method. Chi(_)squared tests and Bonferroni correction method were applied in the statistical analysis of the data. Significantly higher frequency of DRB1*04 (24.8% vs 7.7%, P < 0.0001) was observed in HT patients, while HLA-DRB1*07 was significantly decreased (2.8% vs 7.9%, P < 0.05). HLA-DRB1*04 subtyping showed a significant increase of DRB1*0405 (21% vs 7.8%, P < 0.0001) in HT patients. Also significant high frequencies of DQB1*0201 (14.8% vs 8.2%, P < 0.001), DQB1*0302 (18.8% vs 7.0%, P < 0.0001), and DQA1*0301 (25.6% vs 7.8%, P < 0.0001) were recorded in the patient group. Conducting the first research of this kind in a Greek population, our study tries to provide an evaluation of the prevalence of HT relating to HLA-DRB1*0405, and we report a relative risk of 2.7 for HT in a Greek population.

show abstract

“…We hypothesized that genetic and/or environmental factors a role in the disease onset. Among the putative genetic factors, HLA region on chromosome 6 is a reasonable candidate, as demonstrated through strong associations with a large variety of autoimmune or inflammatory diseases [39] such as type 1 diabetes and celiac disease [40,41], Juvenile Autoimmune thyroiditis or ankylosing spondylitis with HLA-B*27 association [42,43]. Although no HLA allele was shared by the majority of our patients, interestingly, the allele DRB1*11:03 were overrepresented in our cohort (31% carrier frequency vs 1.3% allelic frequency in the general population) [22]) ( Table 3).…”

Section: Discussionmentioning

confidence: 99%

Immunological features of patients affected by Barraquer-Simons syndrome

Corvillo

Ceccarini

Nozal

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background: C3 hypocomplementemia and the presence of C3 nephritic factor (C3NeF), an autoantibody causing complement system over-activation, are common features among most patients affected by Barraquer-Simons syndrome (BSS), an acquired form of partial lipodystrophy. Moreover, BSS is frequently associated with autoimmune diseases. However, the relationship between complement system dysregulation and BSS remains to be fully elucidated. The aim of this study was to provide a comprehensive immunological analysis of the complement system status, autoantibody signatures and HLA profile in BSS. Thirteen subjects with BSS were recruited for the study. The circulating levels of complement components, C3, C4, Factor B (FB) and Properdin (P), as well as an extended autoantibody profile including autoantibodies targeting complement components and regulators were assessed in serum. Additionally, HLA genotyping was carried out using DNA extracted from peripheral blood mononuclear cells. Results: C3, C4 and FB levels were significantly reduced in patients with BSS as compared with healthy subjects. C3NeF was the most frequently found autoantibody (69.2% of cases), followed by anti-C3 (38.5%), and anti-P and anti-FB (30.8% each). Clinical data showed high prevalence of autoimmune diseases (38.5%), the majority of patients (61.5%) being positive for at least one of the autoantibodies tested. The HLA allele DRB1*11 was present in 54% of BSS patients, and the majority of them (31%) were positive for *11:03 (vs 1.3% allelic frequency in the general population). Conclusions: Our results confirmed the association between BSS, autoimmunity and C3 hypocomplementemia. Moreover, the finding of autoantibodies targeting complement system proteins points to complement dysregulation as a central pathological event in the development of BSS.

show abstract

Immunogenetic association and thyroid autoantibodies in juvenile autoimmune thyroiditis in North India

Abstract: These studies point towards an important role of immune modifying genes, such as HLA, in influencing susceptibility to juvenile-onset AITD.

Cited by 12 publications

References 54 publications

High prevalence of polycystic ovary syndrome characteristics in girls with euthyroid chronic lymphocytic thyroiditis: a case–control study

High prevalence of polycystic ovary syndrome characteristics in girls with euthyroid chronic lymphocytic thyroiditis: a case–control study

Major histocompatibility complex class II (DRB1, DQA1, and DQB1) and DRB104 subtypes’ associations of Hashimoto’s thyroiditis in a Greek population

Immunological features of patients affected by Barraquer-Simons syndrome

Contact Info

Product

Resources

About

Immunogenetic association and thyroid autoantibodies in juvenile autoimmune thyroiditis in North India

Abstract: These studies point towards an important role of immune modifying genes, such as HLA, in influencing susceptibility to juvenile-onset AITD.

Cited by 12 publications

References 54 publications

High prevalence of polycystic ovary syndrome characteristics in girls with euthyroid chronic lymphocytic thyroiditis: a case–control study

High prevalence of polycystic ovary syndrome characteristics in girls with euthyroid chronic lymphocytic thyroiditis: a case–control study

Major histocompatibility complex class II (DRB1*, DQA1*, and DQB1*) and DRB1*04 subtypes’ associations of Hashimoto’s thyroiditis in a Greek population

Immunological features of patients affected by Barraquer-Simons syndrome

Contact Info

Product

Resources

About

Major histocompatibility complex class II (DRB1, DQA1, and DQB1) and DRB104 subtypes’ associations of Hashimoto’s thyroiditis in a Greek population