An Association Analysis between 5‐HTTLPR Polymorphism and Obsessive–Compulsive Disorder, Tourette Syndrome in a Chinese Han Population

• Published in: CNS neuroscience & therapeutics Vol. 17; no. 6; pp. 793 - 795
• Main Authors: Liu, Shi‐Guo, Zhang, Xin‐Hua, Yin, Ying‐Ying, Wang, Mei‐Jian, Che, Feng‐Yuan, Ma, Xu
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.12.2011; Wiley-Blackwell; John Wiley & Sons, Inc
• Subjects: 5‐HTTLPR; Adolescent; Adult; Age; Alleles; Asian Continental Ancestry Group; Association analysis; Binding sites; Biological and medical sciences; Case-Control Studies; Child; Child, Preschool; China - epidemiology; Complex syndromes; DNA nucleotidylexotransferase; Equilibrium; Female; Gene Frequency; Gene polymorphism; Genetic Association Studies; Genotype; Genotype & phenotype; Gilles de la Tourette syndrome; Humans; Indexing in process; Insertion; Letter to the Editor; Letters to the Editor; Linkage disequilibrium; Male; Malformations of the nervous system; Medical genetics; Medical sciences; Middle Aged; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurology; Obsessive compulsive disorder; Obsessive-Compulsive Disorder - genetics; Obsessive-Compulsive Disorder - psychology; Polymorphism; Polymorphism, Genetic - genetics; Population; Serotonin; Serotonin Plasma Membrane Transport Proteins - genetics; Serotonin transporter; Tourette Syndrome; Tourette Syndrome - genetics; Tourette Syndrome - psychology; Young Adult; China; Obsessive compulsive disorder; Nervous system diseases; Central nervous system disease; Anxiety disorder; Chinese; Gilles de la Tourette syndrome; Degenerative disease; Cerebral disorder; Polymorphism
• ISSN: 1755-5930; 1755-5949
• DOI: 10.1111/j.1755-5949.2011.00274.x

[...]it's expression is differential due to functional polymorphism of serotonin‐transporter‐linked polymorphic region (5‐HTTLPR) including the long (L) and short (S) variants which consists of a 44‐bp insertion or deletion involving repeat elements 6–8 respectively [ 5]. Because the initial description of the function of this allele in a study of OCD by Lesch et al., two family‐based association studies [ 6,7] and two case–control‐based meta‐analyses [ 3,8] have supported the relevance of this polymorphism to OCD. 1 Genotype and allele frequency of the 5‐HTTLPR polymorphism in OCD patients and controls Group N Genotype χ2 P value Allele χ2 P value OR 95%(CI) LL LS SS L S Male OCD 106 14(13%) 39(37%) 53(50%) 2.22 0.33 67(32%) 145(68%) 0.21 0.65 0.91 0.62–1.35 Male control 125 13(10%) 58(46%) 54(43%) 84(34%) 166(67%) Female OCD 101 14(14%) 37(37%) 50(49%) 5.43 0.07 65(32%) 137(68%) 6.04 0.01 1.65 1.10–2.46 Female control 150 10(7%) 47(31%) 93(62%) 67(22%) 233(78%) Onset OCD(<18) 113 12(13%) 37(39%) 45(48%) 1.02 0.60 61(32%) 127(68%) 0.83 0.36 1.22 0.79–1.85 Onset OCD(≥18) 94 13(12%) 38(34%) 62(55%) 64(28%) 162(72%) OCD with tic 11 3(27%) 5(46%) 3(27%) 3.83 0.15 11(50%) 11(50%) 4.32 0.038 2.44 1.03–5.78 OCD without tic 196 22(11%) 70(36%) 104(53%) 114(29%) 278(71%) OCD patients 207 25(12%) 75(36%) 107(52%) 1.83 0.40 125(32%) 289(68%) 0.87 0.35 1.14 0.86–1.51 OCD controls 275 23(8%) 105(38%) 147(54%) 151(28%) 399(73%) 2 The results of HRR analysis and TDT analysis of TS study Transmitted allele Untransmitted allele Total TDT χ2 P value L S L a = 22 b = 40 W = 62 S c = 46 d = 108 X = 154 Total Y = 68 Z = 148 2N = 432 0.412 0.518 Genotype of case Genotype of control Total χ2 P value HRR 95%(CI) LL LS SS LL, LS A = 49 B = 59 W = 108 SS C = 57 D = 51 X = 108 Total Y = 106 Z = 110 N = 216 0.025 0.87 1.25 0.57–1.95 The findings from this study do not support an association of 5‐HTTLPR polymorphism with either OCD or TS. [...]population‐based differences, particularly in the extent of linkage disequilibrium between the tested polymorphism and other potential variants in the gene, may have contributed the discrepant finding.