<scp>HLA DRB</scp>1* and <scp>DQB</scp>1* alleles are associated with disease severity in patients with pemphigus vulgaris

Svecova, D; Párnická, Zuzana; Pastyrikova, Lucia; Urbanček, Slavomír; Luha, Ján; Buc, Milan

doi:10.1111/ijd.12418

Cited by 22 publications

(28 citation statements)

References 26 publications

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“…Pemphigus vulgaris also echoes the pattern that autoimmune diseases occur more frequently in patients with another autoimmune disease and has associations with the female-predominant thyroid diseases and rheumatoid arthritis (Ameri et al, 2013, Gupta et al, 2011, Ljubojevic and Lipozencic, 2012, Svecova et al, 2014). Worsened outcome of PV has also been associated with females, as one recent analysis showed that the HLA alleles DRB1*04:02 and DQB1*03:02 were associated with severe PV, and DQB1*03:02 was found more frequently in female patients than in males (Svecova et al, 2014). However, no epidemiological studies to date have evidenced the association of sex with this genetic predisposition.…”

Section: Epidemiology and Etiologymentioning

confidence: 78%

Autoimmune blistering diseases in females: a review

Zhao

Murrell

2015

International Journal of Women's Dermatology

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The autoimmune blistering diseases (AIBDs) are a group of heterogeneous skin diseases with autoantibodies directed against structural proteins in the skin. A new interest in the female bias towards autoimmune diseases in general has led to our attention to focus on how and why this female bias manifests in AIBD. The authors aim to review and explore the various aspects of AIBD affecting females more than males, including the higher prevalence, worse quality of life, and complex management issues such as pregnancy and lactation.

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Section: Epidemiology and Etiologymentioning

confidence: 78%

Autoimmune blistering diseases in females: a review

Zhao

Murrell

2015

International Journal of Women's Dermatology

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“…Our study confirms that HLA DRB1* and HLA DQB1* alleles influence susceptibility to PF, but whether they have an effect on disease severity is questionable. Svecova et al . proposed that these alleles may also contribute to disease severity of the more common variant, PV.…”

Section: Discussionmentioning

confidence: 99%

“…Our study confirms that HLA DRB1* and HLA DQB1* alleles influence susceptibility to PF, but whether they have an effect on disease severity is questionable. Svecova et al 17 proposed that these alleles may also contribute to disease severity of the more common variant, PV. However, in a previous study, 18 our group did not find any link in HLA DRB1* or DQB1* allele frequency with prognosis for either PV or PF.…”

Section: Discussionmentioning

confidence: 99%

Sporadic pemphigus foliaceus and class II human leucocyte antigen allele associations in the white British and Indo-Asian populations in the UK

et al. 2018

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Summary Background Pemphigus foliaceus (PF) has both genetic and environmental susceptibility factors. Current data on human leucocyte antigen (HLA) in patients with sporadic PF are limited. Aim To better define the distribution of HLA alleles in patients with PF in the UK. Methods We recruited 36 patients [26 of white British (WB) descent, 10 of Indo‐Asian (IA) descent] with PF who were living in the UK and 159 ethnically matched normal controls, and analysed their class II HLA DRB1 and DQB1 allele distribution. Results There was an increased frequency of DRB1*1404 in association with DQB1*0503 in IA patients with PF. The DRB1*04 allele group as a whole had an increased frequency (P < 0.001) in the WB patient group compared with controls. The alleles contributing to this significance were DRB1*0401 (P = 0.03) and DRB1*0404 (P < 0.01). Conclusion This is the largest HLA association study in sporadic PF from the UK to date. There appears to be a difference in PF susceptibility alleles between WB and IA patients, highlighting the importance of racial variation in genetic susceptibility to disease development.

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“…The etiology is multifactorial and various environmental factors have been implicated as triggering agents . Like many other autoimmune disorders, PV belongs to the family of polygenic disorders with phenotypes resulting from alterations in several different genes encoding molecules involved in the effector or regulatory functions in the immune system, with additive or interacting effects . However, inheritance of certain human leukocyte antigen (HLA) alleles is believed to be the most probable predisposing factor .…”

Section: Introductionmentioning

confidence: 99%

“…Like many other autoimmune disorders, PV belongs to the family of polygenic disorders with phenotypes resulting from alterations in several different genes encoding molecules involved in the effector or regulatory functions in the immune system, with additive or interacting effects . However, inheritance of certain human leukocyte antigen (HLA) alleles is believed to be the most probable predisposing factor . Most literature on the genetic susceptibility to PV is focused on the investigation of major HLA genes .…”

Section: Introductionmentioning

confidence: 99%

Human leukocyte antigen class II (DRB1 and DQB1) alleles and haplotypes frequencies in patients with pemphigus vulgaris among the Serbian population

Živanović

Bojic

Medenica

et al. 2016

HLA

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The etiology of pemphigus vulgaris (PV) is multifactorial and includes genetic, environmental, hormonal, and immunological factors. Inheritance of certain Human class II leukocyte antigen (HLA) alleles is by far the best-established predisposing factor for the development of PV. Class II HLA alleles vary among racial/ethnic backgrounds. We have determined an association between HLA class II alleles and PV among the Serbian population. A total of 72 patients with confirmed diagnosis of PV were genotyped for HLA class II alleles. HLA frequencies were compared with unrelated healthy bone marrow donors. The statistical significance of differences between patients and controls was evaluated using Fisher's exact test. The DRB1*04 and DRB1*14 allelic groups were associated with PV (P adj = 4.45 × 10(-13) and 4.06 × 10(-19) respectively), while HLA-DRB1*11 was negatively associated with PV (P adj = 0.0067) suggesting a protective role. DRB1*04:02, DRB1*14:04, DQB1*03:02 and DQB1*05:03 alleles were shown to be strongly associated with PV (P adj = 1.63 × 10(-12), 5.20 × 10(-7), 1.28 × 10(-6), and 4.44 × 10(-5), respectively). The frequency of HLA DRB1*04-DQB1*03 and HLA DRB1*14-DQB1*05 haplotypes in PV patients was significantly higher than in controls (31.3% vs 8.8%, P adj =7.66 × 10(-8) and 30.6% vs 6.3%, P adj = 3.22 × 10(-10), respectively). At high-resolution level, statistical significance was observed in HLA-DRB1*04:02-DQB1*03:02 and HLA-DRB1*14:04-DQB1*05:03 haplotypes (P adj = 5.55 × 10(-12), and P adj = 3.91 × 10(-6), respectively). Our findings suggest that HLA-DRB1*04:02, DRB1*14:04, HLA-DQB1* 03:02 and DQB1*05:03 alleles and HLA-DRB1*04:02-DQB1*03:02 and HLA-DRB1*14:04-DQB1*05:03 haplotypes are genetic markers for susceptibility for PV, while DRB1*11 allelic group appears protective in Serbian population.

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HLA DRB1* and DQB1* alleles are associated with disease severity in patients with pemphigus vulgaris

Cited by 22 publications

References 26 publications

Autoimmune blistering diseases in females: a review

Autoimmune blistering diseases in females: a review

Sporadic pemphigus foliaceus and class II human leucocyte antigen allele associations in the white British and Indo-Asian populations in the UK

Human leukocyte antigen class II (DRB1 and DQB1) alleles and haplotypes frequencies in patients with pemphigus vulgaris among the Serbian population

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