Interaction of HLA-DRB1* alleles and CTLA4 (+ 49 AG) gene polymorphism in Autoimmune Thyroid Disease

Sivanadham, Ramgopal; Chinniah, Rathika; Ravi, Padma Malini; Vijayan, Murali; Arun, K; Kamaludeen, Mohamed Nainar; Balakrishnan, K.

doi:10.1016/j.gene.2017.11.057

Cited by 26 publications

(18 citation statements)

References 55 publications

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“…DQB1*06 and DRB1*13 have a protective effect against rheumatoid arthritis (RA), while DRB1*01 and DRB1*04 have a detrimental effect [36,37,38]. DRB1*03 and DRB1*12 are respectively protective against or predisposing to autoimmune thyroid diseases (AITDs) [39]. DRB1*07 and DRB1*08 are significantly correlated with the development of type 2 and type 1 autoimmune hepatitis (AIH), respectively [40], and DRB1*08 also increases susceptibility to juvenile idiopathic arthritis (JIA) [41].…”

Section: Discussionmentioning

confidence: 99%

HLA-DQB1 and HLA-DRB1 Variants Confer Susceptibility to Latent Autoimmune Diabetes in Adults: Relative Predispositional Effects among Allele Groups

Zhang

Lin

Yuan

et al. 2019

Genes

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Latent autoimmune diabetes in adults (LADA) was recently demonstrated to be the most frequent form of adult-onset autoimmune diabetes mellitus. Case–control studies have investigated the relationship between human leukocyte antigen (HLA)-DQB1 and HLA-DRB1 polymorphisms and LADA risk, but their conclusions are inconsistent. This study aimed to more precisely explore the correlation between these HLA gene variants and LADA development. Eight databases, including PubMed, Embase, and Medline, were systematically searched for relevant studies up to September 15, 2018. We performed this retrospective study using meta-analysis and relative predispositional effect (RPE) methods. The meta-analysis results indicated that DQB1*02 (odds ratio (OR) = 1.685, pc < 0.005) and DQB1*06 (OR = 0.604, pc = 0.010) have opposite effects on susceptibility to LADA, while a significant decrease in LADA risk caused by DQB1*05 (OR = 0.764, pc = 0.100) disappeared upon Bonferroni correction. The RPE method confirmed the roles of DQB1*02 (χ² = 46.475, p < 0.001) and DQB1*06 (χ² = 17.883, p < 0.001) and further suggested protective effects of DQB1*05 (χ² = 16.496, p < 0.001). Additionally, the meta-analysis results showed that DRB1*03 (OR = 2.685, pc < 0.013), DRB1*04 (OR = 1.954, pc < 0.013), and DRB1*09 (OR = 1.346, pc < 0.013) are associated with increased LADA risk, while DRB1*12 (OR = 0.600, pc < 0.013) and DRB1*13 (OR = 0.583, pc < 0.013) carriers have a decreased risk of developing LADA. Furthermore, the RPE method revealed that DRB1*03 (χ² = 98.754, p < 0.001), DRB1*04 (χ² = 94.685, p < 0.001), DRB1*09 (χ² = 40.489, p < 0.001), DRB1*01 (χ² = 12.181, p < 0.001), DRB1*07 (χ² = 10.882, p = 0.001), and DRB1*08 (χ² = 5.000, p = 0.025) play protective roles against LADA. LADA showed a close relationship with genetic polymorphisms of HLA-DQB1 and WHLA-DRB1, which could contribute to a better understanding of disease pathogenesis and the identification of predisposing loci in the diagnosis and treatment of LADA.

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Section: Discussionmentioning

confidence: 99%

HLA-DQB1 and HLA-DRB1 Variants Confer Susceptibility to Latent Autoimmune Diabetes in Adults: Relative Predispositional Effects among Allele Groups

Zhang

Lin

Yuan

et al. 2019

Genes

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“…AITDs are classic autoimmune diseases, with multiple factors involved. AITDs have been confirmed to be associated with SNPs of various immune genes, including CD40, CTLA4, and IL-21 and so on (31–33). Since autoimmune diseases have a certain degree of similarity in immune imbalance and genetic background, a SNP is often found to be associated with multiple autoimmune diseases.…”

Section: Discussionmentioning

confidence: 99%

Variations in CD14 Gene Are Associated With Autoimmune Thyroid Diseases in the Chinese Population

et al. 2019

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Autoimmune thyroid diseases (AITDs) are chronic organ-specific autoimmune diseases and mainly include Graves' disease (GD) and Hashimoto's thyroiditis (HT). CD14 is an important component of the immune system as a receptor for gram-negative lipopolysaccharide (LPS). The genetic polymorphisms of CD14 have been confirmed to be associated with a variety of autoimmune diseases. However, its relationship with AITDs is still unclear. The study was aimed to determine whether four single nucleotide polymorphisms (rs2915863, rs2569190, rs2569192, and rs2563298) of CD14 are associated with AITDs and its subgroups of GD and HT. The results showed significant association of rs2915863 and rs2569190 with GD. The frequencies of rs2915863 genotypes and T allele in patients with GD differed significantly from their controls (P = 0.007 and P = 0.021, respectively). For rs2569190, frequencies of genotypes and G allele in GD patients also showed positive P-values (P = 0.038 and P = 0.027, respectively). The correlations between these two loci and GD are more pronounced in female GD patients and patients with a family history. In genetic model analysis, the allele model, recessive model, and homozygous model of rs2569190 and rs2915863 embodied strong correlations with GD after the adjusting of age and gender (P = 0.014, P = 0.015, P = 0.009, and P = 0.014, P = 0.001, P = 0.006, respectively). However, these four sites are not related to HT. We firstly discovered the relationship between CD14 gene polymorphism and GD, and the results indicate that CD14 is an important risk locus for AITD and its SNPs may contribute to host's genetic predisposition to GD.

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“…A number of previous studies have attempted to investigate the relationship between DQB1* and autoimmune disease . However, the results are inconsistent.…”

Section: Discussionmentioning

confidence: 99%

Association of HLA class II alleles/haplotypes and amino acid variations in the peptide binding pockets with rheumatoid arthritis

et al. 2019

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Background: Rheumatoid arthritis (RA) is an autoimmune, inflammatory disease, caused by environmental and genetic factors. Aim: To elucidate the association of human leukocyte antigen (HLA)-DRB1*/DQB1* alleles/haplotypes and the variations of polymorphic amino acid changes in peptide binding pockets in RA patients from south India. Methods: HLA typing was performed in 176 RA patients and 176 healthy controls by polymerase chain reaction-sequence-specific primers method. Results: Strong susceptible association for alleles such as DRB1*04:01(odds ratio [OR] = 3.66), 04:06 (OR = 3.81), 03:01 (OR = 2.93), 06:01 (OR = 2.53) and protective association for alleles such as DRB1*13:01 (OR = 0.17), 14:01 (OR = 0.15), 05:02 (OR = 0.17), and 05:03 (OR = 0.338) were observed in RA patients. The 2-locus haplotypes such as 04-02:01 (OR = 3.844), 04-06:01 (OR = 6.57), 07-03:01 (OR = 6.16), 07-06:01 (OR = 3.42), 12-06:01 (OR = 5.24), 15-03:01 (OR = 4.69) with susceptibleand DRB1*14-DQB1*05:03 (OR = 0.078) with protective associations were observed in RA patients. The acid-base analysis revealed that the basic group BB allele was positively associated (OR = 2.372) and the acidic group AA allele was negatively associated (OR = 0.086). The analysis on shared epitopes has revealed that the combination QKRAA+, (Q)RRAA+ or (Q)RRAA− was positively associated with RA (OR = 2.78).The amino acid variation at HLA-DQβ molecule revealed susceptible associations for residues E 86 and L 87 (P1); E 74 (P3); A 13 , Y 26 , I/S 28 , T 28 , I 71 and E 74 (P4); L 9 , T 30 , D 37 and D 57 (P9), whereas, the amino acids A 86 and T 87 (P1); S 74 (P3); G 13/26 , A 71 and S 74 (P4); H 30 and T 37 , S 57 (P9), showed protective associations.

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Interaction of HLA-DRB1* alleles and CTLA4 (+ 49 AG) gene polymorphism in Autoimmune Thyroid Disease

Cited by 26 publications

References 55 publications

HLA-DQB1 and HLA-DRB1 Variants Confer Susceptibility to Latent Autoimmune Diabetes in Adults: Relative Predispositional Effects among Allele Groups

HLA-DQB1 and HLA-DRB1 Variants Confer Susceptibility to Latent Autoimmune Diabetes in Adults: Relative Predispositional Effects among Allele Groups

Variations in CD14 Gene Are Associated With Autoimmune Thyroid Diseases in the Chinese Population

Association of HLA class II alleles/haplotypes and amino acid variations in the peptide binding pockets with rheumatoid arthritis

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