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Our findings confirm an association between the BTBD9, MEIS1, and MAP2K5/SKOR1 SNPs and periodic limb movements of sleep in an elderly cohort.
The GLO1 (show GLO1 Proteins) variations were not the source of association of the BTBD9 locus with restless legs syndrome.
The results of this study BTBD9 suggest that the examined BTBD9 variants are not associated with GTS risk, but may be associated with comorbidity and tic severity in the Polish population.
Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3 (show TOX3 Proteins)/BC034767, MEIS1 (show MEIS1 Proteins), MAP2K5 (show MAP2K5 Proteins)/SKOR1, and PTPRD (show PTPRD Proteins)
The BTBD9 gene is associated with symptoms of antipsychotic-induced restless legs syndrome in schizophrenia.
There was a statistically significant association between the variant rs9296249 of the BTBD9 gene and the TS phenotype
A frequent polymorphism in BTBD9 was significantly associated with serum ferritin (show FTL Proteins) and low iron stores in blood donors.
Variants in MEIS1, BTBD9, and MAP2K5/SKOR1 confer a significant risk of restless legs syndrome in a United States population.
This is the first demonstration of a genetic influence on RLS in ESRD patients with BTBD9 being significantly associated.
BTBD9, was recently linked to restless legs syndrome, periodic limb movements and iron status in humans
Btbd9 mutant mice had motor restlessness including increased total activity, voluntary activity, and wake time and arousals during the rest phase mimicking restless leg syndrome.
Btbd9 is naturally expressed in the hippocampus of mice and is involved in regulating synaptic plasticity and memory.
In a homologous region in mouse, an area containing btbd9 was also identified as being related to iron homeostasis
This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described.
BTB/POZ domain-containing protein 9
, BTB (POZ) domain containing 9