Unlabelled: Isolated/idiopathic REM sleep behavior disorder (iRBD) and Lewy body dementia (LBD) are synucleinopathies that have partial genetic overlap with Parkinson's disease (PD). In this study, we examined if the human leukocyte antigen ( HLA ) locus plays a similar role in iRBD, LBD and PD. The DQA1*01:02∼DQB1*06:02∼DRB1*15:01 haplotype is associated with reduced risk for iRBD (OR=0.72, 95%CI=0.50-0.93, p=2.07*10 -3 ), while the haplotypes DQA1*02:01∼DQB1*03:03∼DRB1*07:01 (OR=1.57; 95%CI=[1.28-1.86]; p=2.45*10 -3 ) and DQA1*05:05∼DQB1*03:01∼DRB1*11:01 (OR=1.39; 95%CI=[1.17-1.60]; p=3.01*10 -3 ) are associated with increased risk for iRBD. This effect was not replicated in LBD. Our results suggest that the HLA locus may have different roles across synucleinopathies. Summary for social media: If you and/or a co-author has a Twitter handle that you would like to be tagged, please enter it here. (format: @AUTHORSHANDLE).@zivganor. What is the current knowledge on the topic?: Variants in HLA-DRB1 have been associated with Parkinson's disease. However, it is unknown whether specific HLA types or variants are associated with isolated REM sleep behavior disorder (iRBD) and dementia with Lewy body dementia (LBD). What question did this study address?: Whether specific HLA types or variants are associated with isolated REM sleep behavior disorder (iRBD) and Lewy body dementia (LBD). What does this study add to our knowledge?: This study suggests an association between three HLA haplotypes and iRBD. How might this potentially impact on the practice of neurology?: Understanding the genetic risk underlying iRBD may help with stratification in clinical studies and trials and provide directions for studying the mechanisms underlying this disorder.
HLA in isolated REM sleep behavior disorder and Lewy body dementia
Figorilli, Michela;Puligheddu, Monica;
2023-01-01
Abstract
Unlabelled: Isolated/idiopathic REM sleep behavior disorder (iRBD) and Lewy body dementia (LBD) are synucleinopathies that have partial genetic overlap with Parkinson's disease (PD). In this study, we examined if the human leukocyte antigen ( HLA ) locus plays a similar role in iRBD, LBD and PD. The DQA1*01:02∼DQB1*06:02∼DRB1*15:01 haplotype is associated with reduced risk for iRBD (OR=0.72, 95%CI=0.50-0.93, p=2.07*10 -3 ), while the haplotypes DQA1*02:01∼DQB1*03:03∼DRB1*07:01 (OR=1.57; 95%CI=[1.28-1.86]; p=2.45*10 -3 ) and DQA1*05:05∼DQB1*03:01∼DRB1*11:01 (OR=1.39; 95%CI=[1.17-1.60]; p=3.01*10 -3 ) are associated with increased risk for iRBD. This effect was not replicated in LBD. Our results suggest that the HLA locus may have different roles across synucleinopathies. Summary for social media: If you and/or a co-author has a Twitter handle that you would like to be tagged, please enter it here. (format: @AUTHORSHANDLE).@zivganor. What is the current knowledge on the topic?: Variants in HLA-DRB1 have been associated with Parkinson's disease. However, it is unknown whether specific HLA types or variants are associated with isolated REM sleep behavior disorder (iRBD) and dementia with Lewy body dementia (LBD). What question did this study address?: Whether specific HLA types or variants are associated with isolated REM sleep behavior disorder (iRBD) and Lewy body dementia (LBD). What does this study add to our knowledge?: This study suggests an association between three HLA haplotypes and iRBD. How might this potentially impact on the practice of neurology?: Understanding the genetic risk underlying iRBD may help with stratification in clinical studies and trials and provide directions for studying the mechanisms underlying this disorder.
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