HLA II class alleles in juvenile idiopathic arthritis patients with and without temporomandibular joint arthritis

Abstract

BackgroundTemporomandibular joint (TMJ) arthritis is seen very often (38–87 %) in children with juvenile idiopathic arthritis (JIA). With contrast enhanced magnetic resonance imaging (MRI) we can detect more cases of TMJ arthritis than ever before. Previous studies show that HLA II class alleles may have protective or risk importance in JIA subtypes. Our objective is to identify HLA II class alleles of risk and protection in JIA patients with TMJ arthritis.MethodsDuring the period from 2010 to 2015 MRI for TMJ was performed in 85 JIA patients who were genotyped for HLA- DRB1; DQB1 and DQA1 using RT-PCR with sequence-specific primers. As a control group, data of 100 individuals were taken from the genetic bank of RSU Joint Laboratory of Clinical Immunology and Immunogenetics. Associations of DRB1; DQB1; DQA1 alleles in patients were examined individually using the χ2 test. P-value (<0.05) and odds ratio were calculated using EPI INFO 6.0 software.ResultsOut of 85 JIA patients with mean age of 13.7 ± 3.0 years (range 6.9–17.9 years), 59 (69 %) were girls and 26 (31 %) were boys. The mean duration of the disease was 3.07 ± 2.35 years (range 0.2–11.0 year). JIA subtypes were as follows: seronegative polyarthritis 51 (60 %), seropositive polyarthritis 6(7 %), oligoarthritis extended 7(8 %), oligoarthritis persistent 2 (2 %) arthritis with enthesitis 14 (17 %), undifferentiated 3 (4 %) and 2 (2 %) systemic arthritis. Two groups where separated after TMJ MRI exam: first with at least two signs of active inflammation and/or any structural damage (n = 62); second with no pathologic signs or with slight contrast enhancement (n = 23). We discovered that there are risk alleles that are found in all JIA patient’s groups (MRI positive and negative groups) versus controls such as DRB1*07:01, DQB1*03:03; DQB1*05:01. Also some protective alleles as DRB1*18:01, DQB1*06:02–8 were found in overall JIA group. Alleles DRB1*12:01, DQB1*03:01; DQA1*05:01 were found to be protective for TMJ arthrits.ConclusionIn our study there were no convincing risk alleles, but there are alleles that probably are protective for TMJ arthritis like DRB1*12:01, DQB1*03:01; DQA1*05:01.

The many faces of genetic contributions to temporomandibular joint disorder: An updated review

“…Different classes of the human leucocyte antigen ( HLA ) have also been studied in regard to TMD. Apparently, HLA‐DRB1*01 (associated with joint erosions), DR54 and DR11 alleles (associated with a higher susceptibility to degenerative process), and DR54 and DR52 alleles (associated with a higher severity of degenerative process) are risk factors for TMD . Conversely, DRB1*12:01 , DQB1*03:01 , DRB1*06 , DQA1*05:01 and HLA‐B27 alleles appear to protect against temporo mandibular joint (TMJ) arthritis …”

Genetics of musculoskeletal (TMD) and neuropathic orofacial pain: a narrative review

“…Additional gene associations include: HLA-DRB1*01 (human leucocyte antigen) DRB1 allele with joint erosions, DR54 and DR11 alleles with higher susceptibility to degenerative process, and DR54 and DR52 alleles with a higher severity of degenerative process. These identified alleles are all associated with risk factors for developing TMDs (21,22). Contrarily, other variants including DRB1*12:01, DQB1*03:01, DRB1*06, DQA1*05:01, and HLA-B27 have been shown to be protective against temporomandibular joint (TMJ) arthritis (21,22).…”

“…These identified alleles are all associated with risk factors for developing TMDs (21,22). Contrarily, other variants including DRB1*12:01, DQB1*03:01, DRB1*06, DQA1*05:01, and HLA-B27 have been shown to be protective against temporomandibular joint (TMJ) arthritis (21,22).…”

Untersuchung zum Mundgesundheitszustand und zu Kiefergelenksbefunden bei Kindern und Jugendlichen mit juveniler idiopathischer Arthritis

“…Insbesondere in frühen Erkrankungsstadien, aber auch bei fortgeschrittener Kiefergelenkarthritis, fehlen oftmals subjektiv wahrgenommene und klinische Auffälligkeiten (Cedströmer et al 2014, Svensson et al 2001. Die Untersuchung muss sehr sorgfältig und präzise erfolgen, wobei rheumaspezifische Anamnese-und Untersuchungsbögen verwendet werden sollten (Dāvidsone et al 2016, Kahl-Nieke 2013, Hiz et al 2012. Die klinische Diagnostik alleine ist allerdings nicht ausreichend kondyläre Veränderungen zu diagnostizieren (Hu et al 2009).…”

“…Das MRT gilt in der Kiefergelenksdiagnostik als Goldstandard, wobei ein bedeutender Nachteil in der notwendigen Sedierung der jungen Patienten liegt (Cedströmer et al 2014, Argyropoulou et al 2009, Twilt et al 2008. Zur Evaluation starker Diagnostikparameter zählen neben anamnestischen und klinischen Auffälligkeiten auch weitere Parameter, wie Erkrankungsart und -aktivität, Patientenalter, Blutparameter und genetische Aspekte (Dāvidsone et al 2016, Niibo et al 2016, Keller et al 2015, Cedströmer et al 2014, Abramowicz et al 2013, Koos et al 2011, Argyropoulou et al 2009, Weiss et al 2008, Billiau et al 2007, Twilt et al 2004 Die Folge dieser Erkrankungen ist eine zunehmende Organinsuffizienz (Isenberg et al 2004). Das MAS ist eine wenn auch seltene aber lebensbedrohliche Komplikation (Reutter und Girschick 2013).…”