A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, Systemic Sclerosis, and Sjögren’s Syndrome

Ortíz-Fernández, Lourdes; Martı́n, Javier; Alarcón‐Riquelme, Marta E.

doi:10.1007/s12016-022-08951-z

Cited by 24 publications

(21 citation statements)

References 145 publications

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“…The development of SLE is strongly influenced by genetic factors. The human leukocyte antigen region (HLA) is the strongest predictor, but the genetic component of disease susceptibility in autoimmune disease, in particular SLE is complex involving large number of variants and loci across the genome ( Ortíz-Fernández et al, 2022 ). While monogenic causes of SLE (e.g., complement deficiencies) exist, the genetic architecture of SLE is far more complex but have provided insight into the immunopathogensis of SLE, especially with regards to type I IFN.…”

Section: Biology and Function Of Type I Interferonsmentioning

confidence: 99%

Targeting type I interferons in systemic lupus erythematous

et al. 2023

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Systemic lupus erythematosus (SLE) is a complex autoimmune disease with systemic clinical manifestations including, but not limited to, rash, inflammatory arthritis, serositis, glomerulonephritis, and cerebritis. Treatment options for SLE are expanding and the increase in our understanding of the immune pathogenesis is leading to the development of new therapeutics. Autoantibody formation and immune complex formation are important mediators in lupus pathogenesis, but an important role of the type I interferon (IFN) pathway has been identified in SLE patients and mouse models of lupus. These studies have led to the development of therapeutics targeting type I IFN and related pathways for the treatment of certain manifestations of SLE. In the current narrative review, we will discuss the role of type I IFN in SLE pathogenesis and the potential translation of these data into strategies using type I IFN as a biomarker and therapeutic target for patients with SLE.

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Section: Biology and Function Of Type I Interferonsmentioning

confidence: 99%

Targeting type I interferons in systemic lupus erythematous

et al. 2023

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“…Recent and elegant original works and reviews have pointed out the genetic commonalities among ADs [ 51 , 52 , 54 , [60] , [61] , [62] , [63] , [64] ], which include hundreds of loci, of which the major histocompatibility complex (MHC) region harbors the strongest susceptibility genes for ADs.…”

Section: Common Genetic Factorsmentioning

confidence: 99%

“…Since the last summary of evidence about the topic [ 2 ] several publications sustaining the theory have been published [ [1] , [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] , [31] , [32] , [33] , [34] , [35] , [36] , [37] , [38] , [39] , [40] , [41] , [42] , [43] , [44] , [45] , [46] , [47] , [48] , [49] , [50] , [51] , [52] , [53] , [54] , [55] , [56] , [57] , [58] , [59] , [60] , [61] , [62] , [63] , [64] , [65] , [66] , [67] , [68] , [69] , <...…”

Section: Introductionunclassified

The autoimmune tautology revisited

Anaya¹,

Beltrán²

2023

Journal of Translational Autoimmunity

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“…Beside this, different constitutional symptoms include fever, asthenia, weight loss, malaise and anorexia [3]. RA is mostly caused by interaction of genetic and environmental factors [4][5][6]. Other risk factors include age, gender and environmental exposure i.e., smoking, different air pollutants and infectious agents [7,8].…”

Section: Introductionmentioning

confidence: 99%

Genetic risk assessment of HLA DRB1 alleles (01, 04, 12 and 15) with Rheumatoid arthritis susceptibility among the Pashtun population of Khyber Pakhtunkhwa, Pakistan

Ilahi,

Khan,

Khan

et al. 2024

Preprint

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Background: Rheumatoid arthritis (RA) is a chronic autoimmune condition influenced by a complex interplay of genetic and environmental factors. Specific genetic variations, particularly in the human leukocyte antigen (HLA)-DRB1 gene, have been strongly linked to RA susceptibility. HLA-DRB1 alleles, part of the major histocompatibility complex (MHC) class II gene family, play a significant role in the immune system. Aims: This study aimed to investigate the association between HLA-DRB1*01, *04, *12, and *15 alleles and RA risk within the Pashtun population of Pakistan. Methods: A cohort of 100 RA patients and 80 healthy controls was recruited for this study. DNA was isolated from blood samples using the salting-out method, followed by genotyping using sequence-specific primer polymerase chain reaction (SSP-PCR). The association of the selected alleles with clinicopathological and demographic parameters of RA was assessed using the Medcalc odds ratio calculator and Chi-square test. Results: Allelic and genotypic analysis revealed that HLA-DRB1 *01 and *04 variants exhibited non-significant associations with RA risk (P=0.1421 and 0.8495, respectively). Similarly, mutant genotypes of HLA-DRB1 *01 and *04 showed non-significant associations with RA (P=0.2922 and P=0.8263, respectively). However, the heterozygous CA genotype of HLA-DRB1 *01 demonstrated a significant association with RA (P=0.0004), whereas HLA-DRB1 *04 did not (P=0.9120). Furthermore, HLA-DRB1 *12 showed a significant association with increased RA risk (P=0.0001), while HLA-DRB1 *15 did not (P=0.5519). Additionally, HLA-DRB1*01, *04, and *12 did not show significant associations with age group (P=0.08, P=0.11, P=0.16) and rheumatoid factor (RF) status (P=0.34, P=0.65, and P=0.74), whereas HLA-DRB1 *15 exhibited non-significant associations with age group and RF (P=0.01 each). Moreover, associations of HLA-DRB1 *01, *04, *12, and *15 with gender (P=0.81, P=0.52, P=0.27, and P=0.09, respectively) and anti-citrullinated protein antibody (ACPA) status (P=0.56, P=0.40, P=0.65, and P=0.008, respectively) were not significant, except for HLA-DRB1 *04, which displayed a significant association with ACPA. Conclusion: HLA-DRB1 *12 and heterozygous genotypes of HLA-DRB1 *01 were significantly associated with RA risk in the Pashtun population. However, further analysis utilizing whole exome sequencing with larger datasets is warranted for more precise results.

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A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, Systemic Sclerosis, and Sjögren’s Syndrome

Cited by 24 publications

References 145 publications

Targeting type I interferons in systemic lupus erythematous

Targeting type I interferons in systemic lupus erythematous

The autoimmune tautology revisited

Genetic risk assessment of HLA DRB1 alleles (01, 04, 12 and 15) with Rheumatoid arthritis susceptibility among the Pashtun population of Khyber Pakhtunkhwa, Pakistan

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