Analysis Of Single Nucleotide Polymorphisms And Cognitive Function Of Primary Restless Legs Syndrome In Southern Chinese Population

Restless legs syndrome(RLS)is a unique sensorimotor sleep disorder characterized by an irresistible urge to move usually accompanied by uncomfortable sensations which often appears at night and special positions such as lying and sitting.RLS is a troubling disease which could cause secondary insomnia and depression.Though lots of work have been done of primary RLS,few of them are targeting Asian population.Some phenomenon such as huge different prevalence between Asian population and Caucasians of primary RLS indicate that there are differences of characteristics of primary RLS between Asians and Caucasians.We will study primary RLS in southern Chinese population to illustrate the characteristics from views of genetics and cognitive function.There are two chapters in our study as follows: Chapter One.Association between single nucleotide polymorphisms(SNPs)of MEIS1,BTBD9,MAP2K5/SKOR1,TOX3,PTPRD and intergenic region of 2p14 and primary RLS in southern ChineseThe aim of the study was to investigate the relationship between genetic factors and primary RLS in Chinese population.Totally,116 RLS patients and 200 controls were recruited and the diagnosis of RLS was based on the criteria of International RLS Study Group.Polymer chain reaction(PCR)and sequencing were used to detect 19 SNPs in six genetic loci(MEIS1,BTBD9,PTPRD,MAP2K5/SKOR1,TOX3,and Intergenic region of 2p14).Our study found that one SNP increased the risk of RLS in Chinese population: rs6494696 of MAP2K5/SKOR1(odds ratio [OR] = 0.09,p < 0.0001,recessive model).A further meta-analysis of RLS in Asian population found that two SNPs of BTBD9 increased the risk of RLS: rs9296249 of BTBD9(OR = 1.44,p =0.000,T allele),rs9357271 of BTBD9(OR = 1.38,p =0.021,dominant model).Our results confirmed the association of BTBD9 and MAP2K5/SKOR1 with primary RLS in Chinese population.Chapter Two.Analysis of cognitive function of primary RLS in southern ChineseThe aim of the study was to investigate the cognitive function of primary RLS.A total of 40 RLS patients and 40 controls,matched with age,sex and educational level,were evaluated by detailed cognitive assessments,including Chinese version of mini-mental status examination(MMSE-C),clock drawing test(CDT),Auditory Verbal Learning test(AVLT),Rey-Osterrieth Complex Figure(CFT)and Stroop Color Word Test(SCWT).There were statistical differences of time completing Card C and Interference Index of Stroop Test and CFT(Card C time: 102.36±17.12 vs.87.08±7.73,p=0.032;Interference Index: 3.39±0.38 vs.2.90±0.15,p<0.0001;CFT: 24.05±9.28 vs.33.74±1.59,p=0.005).Statistical differences were also found in CDT(3-score method: 2.07±0.80 vs.2.90±0.38,p=0.005;5-score method: 3.36±1.46 vs.4.85±0.53,p=0.004;16-score method: 10.13±3.94 vs.13.98±1.79,p=0.003;30-score method: 17.54±8.75 vs.26.20±3.98,p=0.0032).Our study demonstrated executive and visuospatial dysfunction in Chinese primary RLS.