Distribution of HLA-DRB1 genes in patients with sporadic ankylosing spondylitis in the south of Spain

Pérez-Guijo, Verónica; Muñóz, Eduardo; Escudero, Alejandro; Veroz, Raúl; Sánchez, Martínez; Muñoz-Villanueva, MC; González, Raúl; Peña, José A.; Collantes-Estévez, Eduardo

doi:10.1016/s1297-319x(02)00430-x

Cited by 8 publications

(2 citation statements)

References 24 publications

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“…In the ARMD genetic and inflammatory factors are involved as much in the beginning as in the development of this pathology (8,11). The genetic polymorphism of the HLA and its importance in the immune response, would explain the high number of associations found between certain HLA alleles and different immune diseases (24)(25)(26).…”

Section: Discussionmentioning

confidence: 99%

HLA B27 as Predisposition Factor to Suffer Age Related Macular Degeneration

et al. 2009

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To research whether specific alleles HLA class I (HLA-A and HLA-B) and class II (HLA-DR) are risk factors for the development of exudative type of Age Related Macular Degeneration (ARMD), HLA antigens are expressed both in normal and affected eyes with ARMD. We designed a prospective case-controlled study. We recruited 75 patients with choroidal neovascularization predominantly classic or occult, secondary to ARMD, and treated with photodynamic therapy. Two hundred and fifty patients over 55 years old, without ophthalmologic pathology who went to hospital for an analytical routine check were used as control. The analysis of the data shows a significant difference between two groups. Allele HLA-B27 correlated positively with ARMD (p < 0.0113). However, we didn't find alleles negatively associated. Thus HLA-B27 is an allele predisposed to suffer ARMD. Cellular & Molecular Immunology. 2009;6(4):303-307.

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Section: Discussionmentioning

confidence: 99%

HLA B27 as Predisposition Factor to Suffer Age Related Macular Degeneration

et al. 2009

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“…For example, RA has been associated with the DR4 haplotype, specifically with HLA-DRB1*04:01 , *04:04 and *04:08 alleles in Caucasians ( 7 – 9 ). The HLA-DRB1*01 , *04 and *07 alleles have been shown to contribute, in addition to the major B27 class I risk, to the risk of developing AS ( 10 , 11 ). Increased susceptibility to SLE has been linked with the DR3 and DR15 haplotypes, with the predisposing alleles being the HLA-DRB1*03:01 and *15:01 in Caucasians ( 12 ).…”

Section: Introductionmentioning

confidence: 99%

Simultaneous detection of DNA variation and methylation at HLA class II locus and immune gene promoters using targeted SureSelect Methyl-Sequencing

Kalomoiri,

Prakash,

Lagström

et al. 2023

Front. Immunol.

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The Human Leukocyte Antigen (HLA) locus associates with a variety of complex diseases, particularly autoimmune and inflammatory conditions. The HLA-DR15 haplotype, for example, confers the major risk for developing Multiple Sclerosis in Caucasians, pinpointing an important role in the etiology of this chronic inflammatory disease of the central nervous system. In addition to the protein-coding variants that shape the functional HLA-antigen-T cell interaction, recent studies suggest that the levels of HLA molecule expression, that are epigenetically controlled, also play a role in disease development. However, deciphering the exact molecular mechanisms of the HLA association has been hampered by the tremendous genetic complexity of the locus and a lack of robust approaches to investigate it. Here, we developed a method to specifically enrich the genomic DNA from the HLA class II locus (chr6:32,426,802-34,167,129) and proximal promoters of 2,157 immune-relevant genes, utilizing the Agilent RNA-based SureSelect Methyl-Seq Capture related method, followed by sequencing to detect genetic and epigenetic variation. We demonstrated successful simultaneous detection of the genetic variation and quantification of DNA methylation levels in HLA locus. Moreover, by the detection of differentially methylated positions in promoters of immune-related genes, we identified relevant pathways following stimulation of cells. Taken together, we present a method that can be utilized to study the interplay between genetic variance and epigenetic regulation in the HLA class II region, potentially, in a wide disease context.

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The Major Histocompatibility Complex and Reactive Arthritis

Naovarat¹,

Reveille²

2019

Infections and the Rheumatic Diseases

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Distribution of HLA-DRB1 genes in patients with sporadic ankylosing spondylitis in the south of Spain

Cited by 8 publications

References 24 publications

HLA B27 as Predisposition Factor to Suffer Age Related Macular Degeneration

HLA B27 as Predisposition Factor to Suffer Age Related Macular Degeneration

Simultaneous detection of DNA variation and methylation at HLA class II locus and immune gene promoters using targeted SureSelect Methyl-Sequencing

The Major Histocompatibility Complex and Reactive Arthritis

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