Clustering and Alignment of Polymorphic Sequences for HLA-DRB1 Genotyping

Ringquist, Steven; Bellone, Gaia; Lu, Yunlong; Roeder, Kathryn; Trucco, Massimo

doi:10.1371/journal.pone.0059835

Cited by 6 publications

(3 citation statements)

References 30 publications

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“…The HLA loci constitute the most highly polymorphic genetic system in humans [74,75]. HLA-DR is placed in the membrane of antigen presenting cells (lymphocytes, dendritic cells, macrophages) [76], and HLA-DRB1 plays a central role by presenting peptides derived from extracellular proteins and contains all the polymorphisms specifying the peptidebinding specificities.…”

Section: Hypocretin-1 or Orexin-amentioning

confidence: 99%

Sleep Disorders in Multiple Sclerosis. Review

Veauthier

2015

Curr Neurol Neurosci Rep

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Sleep disorders are common in patients with multiple sclerosis (MS) and play a crucial role in health and quality of life; however, they are often overlooked. The most important sleep disorders in this context are as follows: insomnia, restless legs syndrome, periodic limb movement disorders, and sleep-related breathing disorders (SRBD). It is unclear if MS-related processes (lesions, brain atrophy) can cause symptomatic forms of sleep apnea. MS-related narcolepsy-like symptoms are described in the literature and, in some cases, have resolved with methylprednisolone pulse therapy. Similarly, REM sleep behavior disorder (RBD) is very rare in MS, but it can be an initial sign of MS where cortisone therapy may be helpful and can be taken into account in this specific context. Independent diagnosis and treatment is required for all of the abovementioned conditions. Treating physicians and neurologists should be aware of these comorbidities and initiate specific therapy. Highly fatigued or sleepy MS patients should have polysomnography in order not to overlook these diagnoses.

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Section: Hypocretin-1 or Orexin-amentioning

confidence: 99%

Sleep Disorders in Multiple Sclerosis. Review

Veauthier

2015

Curr Neurol Neurosci Rep

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“…HLA-DR4-positive patients were found to be more prevalent among cohort of patients with ANCA-associated vasculitis, especially granulomatosis with polyangiitis (Wegener's granulomatosis) [49]. Similarly, HLA-DRB1 genotype was associated with myriad autoimmune conditions [50]. In the work of Young et al, 199 women with silicone implants were assessed for association between HLA group and post implantation symptoms.…”

Section: Patients With History Of Allergic Conditions/atopic Disordersmentioning

confidence: 99%

Autoimmune/inflammatory syndrome induced by adjuvant (ASIA) evolution after silicone implants. Who is at risk?

2015

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Silicone implants have been in use since the mid-twentieth century, especially in the field of reconstructive breast surgery, and have long been considered as biologically inert and harmless. However, growing body of evidence from the past two decades links silicone with subsequent autoimmunity-related complications, collectively known as autoimmune/inflammatory syndrome induced by adjuvant--ASIA. Previous data suggest that while some patients tend to develop post-exposure autoimmune phenomena such as ASIA, other do not. However, thus far, no criteria for risk stratification were suggested. This current review summarizes the data linking silicone implants and autoimmunity, suggesting means of defining individuals who are at increased risk to develop silicone-induced ASIA, and therefore, a recommendation was made to avoid silicone implantation, e.g., individuals with previously diagnosed autoimmune disorders or with genetic preponderance for hyperactive immune system should not be considered as candidates for silicone implantation.

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“…Additionally, various PCR designs, such as long PCR and reverse transcription-PCR, have been applied for NGS HLA typing. 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 These PCR-based HLA-typing methods are primarily different based on primer design and the type of sequencer ( Figure 2a ). In particular, the long PCR method enables sequencing of the entire HLA gene, including the intron, untranslated region, and upstream and downstream regions, thus realizing high-resolution and high-throughput HLA typing.…”

Section: Pcr-based Hla Sequencing Using Ngsmentioning

confidence: 99%

The impact of next-generation sequencing technologies on HLA research

et al. 2015

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In the past decade, the development of next-generation sequencing (NGS) has paved the way for whole-genome analysis in individuals. Research on the human leukocyte antigen (HLA), an extensively studied molecule involved in immunity, has benefitted from NGS technologies. The HLA region, a 3.6-Mb segment of the human genome at 6p21, has been associated with more than 100 different diseases, primarily autoimmune diseases. Recently, the HLA region has received much attention because severe adverse effects of various drugs are associated with particular HLA alleles. Owing to the complex nature of the HLA genes, classical direct sequencing methods cannot comprehensively elucidate the genomic makeup of HLA genes. Thus far, several high-throughput HLA-typing methods using NGS have been developed. In HLA research, NGS facilitates complete HLA sequencing and is expected to improve our understanding of the mechanisms through which HLA genes are modulated, including transcription, regulation of gene expression and epigenetics. Most importantly, NGS may also permit the analysis of HLA-omics. In this review, we summarize the impact of NGS on HLA research, with a focus on the potential for clinical applications.

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Clustering and Alignment of Polymorphic Sequences for HLA-DRB1 Genotyping

Cited by 6 publications

References 30 publications

Sleep Disorders in Multiple Sclerosis. Review

Sleep Disorders in Multiple Sclerosis. Review

Autoimmune/inflammatory syndrome induced by adjuvant (ASIA) evolution after silicone implants. Who is at risk?

The impact of next-generation sequencing technologies on HLA research

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