HLA-DRB1 polymorphisms and alopecia areata disease risk

Ji, Conghua; Liu, Shan; Zhu, Kan; Luo, Huimin; Li, Qiushuang; Zhang, Ying; Huang, Sijia; Chen, Qing; Cao, Yi

doi:10.1097/md.0000000000011790

Cited by 16 publications

(7 citation statements)

References 25 publications

(35 reference statements)

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“…Furthermore, we identified HLA-DRB1 variants are found in the sporadic MMD patients. HLA-DRB1 play a central role in the immune system by presenting peptides derived from extracellular proteins (Ji et al 2018;Lauterbach et al 2014). Although MMD patients with autoimmune diseases were excluded from this study, immune system dysfunction is still associated with the MMD pathophysiological process.…”

Section: Discussionmentioning

confidence: 99%

Peer Review #2 of "PHACTR1 is associated with disease progression in Chinese Moyamoya disease (v0.1)"

2020

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Moyamoya disease (MMD) is a progressive stenosis at the terminal portion of internal carotid artery and frequently occurs in East Asian countries. The etiology of MMD is still largely unknown. We performed a case-control design with whole-exome sequencing analysis on 31 sporadic MMD patients and 10 normal controls with matched age and gender. Patients clinically diagnosed with MMD was determined by digital subtraction angiography (DSA). Twelve predisposing mutations on 7 genes associated with the sporadic MMD patients of Chinese ancestry (CCER2, HLA-DRB1, NSD-1, PDGFRB, PHACTR1, POGLUT1, and RNF213) were identified, of which 8 single nucleotide variants (SNVs) were deleterious with CADD PHRED scaled score >15. Sanger sequencing of 9 cases with disease progression and 22 stable MMD cases validated that SNV (c.13185159G>T, p.V265L) on PHACTR1 was highly associated with the disease progression of MMD. Finally, we knocked down the expression of PHACTR1 by transfection with siRNA and measured the cell survival of human coronary artery endothelial cell (HCAEC) cells. PHACTR1 silence reduced the cell survival of HCAEC cells under serum starvation cultural condition. Together, these data identify novel predisposing mutations associated with MMD and reveal a requirement for PHACTR1 in mediating cell survival of endothelial cells.

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Section: Discussionmentioning

confidence: 99%

Peer Review #2 of "PHACTR1 is associated with disease progression in Chinese Moyamoya disease (v0.1)"

2020

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“…There are few data about HLA class I alleles in AA because the majority of HLA and AA studies have been directed at HLA class II alleles. 13 The first description of an association between HLA class I and AA dates from the 1970s, which reported on a Finnish population and found that HLA-B12 was significantly increased in patchy patients with AA. 14 HLA-B18 was associated with AA in a Jewish cohort.…”

Section: Genotypementioning

confidence: 99%

Joint study of the associations of HLA‐B and the transmembrane short tandem repeat polymorphism of MICA protein with alopecia areata shows independent associations of both with the disease

et al. 2020

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Background. Alopecia areata (AA) is a skin disease that produces hair loss in patches of skin. The underlying mechanism of AA is a loss of immune privilege of hair follicles, which are then attacked by natural killer (NK) cells. A previous genome-wide association study linked single nucleotide polymorphisms of the protein MHC class I chain-related A (MICA) to this disease. MICA is the ligand for the activating receptor NKG2D, expressed mainly by NK cells and CD8+ cytotoxic T cells. As the aforementioned study did not include short tandem repeats (STRs) of MICA, we decided to study these in relation to AA. Aim. To study the association of STRs with AA, alongside that of human leucocyte antigen (HLA) locus B, which is closely linked to MICA. Methods. DNA amplicon size analysis was carried out, and HLA-B locus genomic typing was performed by PCR-sequence-specific oligonucleotide analysis. Results. We observed an association between AA and both MICA*009 and HLA-B14; associations were also observed between HLA-B alleles and MICA alleles, which have both been previously found to be connected with AA, but never studied together. Conclusions. We conclude that it is important to study HLA-B and MICA together to avoid the influence of their association in experiments in which they are investigated separately.

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“…The lifetime risk of AA is estimated to be approximately 1-2% (4) . Although the disease can occur at any age (5) , it is more prevalent in children (6) . Approximately 70% of cases are diagnosed between 10 and 25 years of age (7) .…”

Section: Epidemiologymentioning

confidence: 99%

Alopecia areata

Otlewska¹,

Otlewska²,

Szpotowicz³

2019

Pediatr Med Rodz

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Alopecia areata is a disorder with an estimated lifetime risk of 1 to 2%. The prevalence is the highest in the age group of 10 to 25 years. The exact aetiopathogenesis of alopecia areata is not precisely known, however, some factors that seem to play an important role in the development of the condition include autoimmune processes, stress or genetic vulnerability. Also, alopecia areata often coexists with depressive or anxiety disorders. The clinical presentation of alopecia areata includes sharply demarcated patches of hair loss, though the skin remains otherwise unaffected by any pathological changes. The severity of the condition varies greatly, and symptoms may range from isolated areas of hair loss on the scalp to total hair loss of the scalp -or even total loss of body hair. The most important differential diagnosis to consider in patients with suspected alopecia areata is androgenetic alopecia, i.e. the most common form of hair loss. The course of alopecia areata remains difficult to predict. In the majority of cases, the hair grows back spontaneously, but relapses are common. Treatment involves a variety of drugs, mainly immunomodulatory agents -either the types generating an allergic reaction or producing immunosuppressive effects. There are, however, no established treatment regimens for alopecia areata. It is worthwhile to note that antidepressants and non-pharmacologic interventions such as psychotherapy are also frequently used for treatment. Patients with alopecia areata often experience an impaired quality of life secondary to the disease. This fact, combined with the potential contribution of stress to the development of the condition, seems important from the viewpoint of considering psychological support in this group of patients.

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HLA-DRB1 polymorphisms and alopecia areata disease risk

Abstract: Supplemental Digital Content is available in the text

Cited by 16 publications

References 25 publications

Peer Review #2 of "PHACTR1 is associated with disease progression in Chinese Moyamoya disease (v0.1)"

Peer Review #2 of "PHACTR1 is associated with disease progression in Chinese Moyamoya disease (v0.1)"

Joint study of the associations of HLA‐B and the transmembrane short tandem repeat polymorphism of MICA protein with alopecia areata shows independent associations of both with the disease

Alopecia areata

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