Serotonin (5-hydroxytryptamine, 5-HT) influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy. The serotonin transporter (5-HTT) is th...Serotonin (5-hydroxytryptamine, 5-HT) influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy. The serotonin transporter (5-HTT) is the most important factor in serotonin inactivation. We tested whether 5-HTT polymorphisms are involved in the pathogenesis of epilepsy in Chinese Han population. We did not find a significant difference in the frequencies of genotypes and alleles in the 5-HTT gene-linked poLymorphic region (5-H-I-FLPR) in patients with non-lesional temporal lobe epilepsy and normal controls (P〉 0.05). Frequencies of the 5-H1-1- intron 2 variable number tandem repeat (5-HTTVNTR) 12/12 genotype and allele 12 were higher in the patients with non-lesional temporal lobe epilepsy than normal controls (P 〈 0.01). The odds ratio of affecting non-lesional temporal lobe epilepsy was 1.435 (95% Cl, 1.096 1.880) in patients carrying allele 12 (P 〈 0.05). Although the 5-HTTLPR may not be a genetic locus of non-lesional temporal lobe epilepsy in Chinese Hart population, allele 12 in the 5-HTTVNTR may correlate with non-lesional temporal lobe epilepsy. The Stin2.12 allele and 12/12 genotype could be predisposing to non-lesional temporal lobe epilepsy.展开更多
BACKGROUND: Serotonin transporter (5-HTT) polymorphisms comprise 5-HTT gene-linked polymorphism region (5-HTTLPR) and variable number of tandem repeats (VNTR). Studies have revealed an association between 5-HTT...BACKGROUND: Serotonin transporter (5-HTT) polymorphisms comprise 5-HTT gene-linked polymorphism region (5-HTTLPR) and variable number of tandem repeats (VNTR). Studies have revealed an association between 5-HTT polymorphism and major depressive disorder, which suggests that the "S" allele of 5-HTTLPR and Stin2.9 of 5-HTTVNTR are associated with major depressive disorder. However, there are a number of studies that do not support the 5-HTT polymorphism effect in major depressive disorder. OBJECTIVE: To study the relationship between 5-HTT gene polymorphism and major depressive disorder in Chinese Han population. DESIGN, TIME AND SETTING: Case-controlled study of 5-HTT gene polymorphism. The experiment was performed at the Central Laboratory, Third Affiliated Hospital of Sun Yat-sen University, China from March 2005 to January 2006. PARTICIPANTS: A total of 99 depressive patients of Chinese Han nationality were recruited for this study. All patients met DSM-IV diagnostic criteria for major depressive disorder and had a total score of Hamilton Depression Scale (24 items) ≥21 points. In addition, 101 healthy subjects, matched for age and gender, served as the control group. METHODS: Venous blood was collected from all subjects. 5-HTT genotypes and alleles were determined by polymerase chain reaction. Consistent with the Hardy-Weinberg equilibrium, the association between 5-HTT gene polymorphism and major depressive disorder were analyzed by Chi-square test. MAIN OUTCOME MEASURES: 5-HTTLPR and 5-HTTVNTR genotypes and allele frequencies were measured. RESULTS: No significant differences in 5-HTTLPR genotypes and allele frequencies were determined between patients and controls (P 〉 0.05). However, significant differences in 5-HTTVNTR genotypes and allele frequencies were detected (P 〈 0.01 ). The Stin2.10 allele and 10/10 genotype associated with major depressive disorder (OR = 2.61,7.7, P 〈 0.05; analysis of dose-response relationships Х^2 = 12.35, P 〈 0.01). CONCLUSION: Results from the present study revealed no association between 5-HTTLPR and major depressive disorder. However, a significant association between 5-HTTVNTR and major depressive disorder existed in a population of Chinese Han. The presence of Stin2.10 and 10/10 genotypes increased the risk for major depressive disorder in a dose-dependent manner.展开更多
文摘Serotonin (5-hydroxytryptamine, 5-HT) influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy. The serotonin transporter (5-HTT) is the most important factor in serotonin inactivation. We tested whether 5-HTT polymorphisms are involved in the pathogenesis of epilepsy in Chinese Han population. We did not find a significant difference in the frequencies of genotypes and alleles in the 5-HTT gene-linked poLymorphic region (5-H-I-FLPR) in patients with non-lesional temporal lobe epilepsy and normal controls (P〉 0.05). Frequencies of the 5-H1-1- intron 2 variable number tandem repeat (5-HTTVNTR) 12/12 genotype and allele 12 were higher in the patients with non-lesional temporal lobe epilepsy than normal controls (P 〈 0.01). The odds ratio of affecting non-lesional temporal lobe epilepsy was 1.435 (95% Cl, 1.096 1.880) in patients carrying allele 12 (P 〈 0.05). Although the 5-HTTLPR may not be a genetic locus of non-lesional temporal lobe epilepsy in Chinese Hart population, allele 12 in the 5-HTTVNTR may correlate with non-lesional temporal lobe epilepsy. The Stin2.12 allele and 12/12 genotype could be predisposing to non-lesional temporal lobe epilepsy.
基金a grant from the Foundation of Guangdong Province of Science and Technology,No. 2003C3380
文摘BACKGROUND: Serotonin transporter (5-HTT) polymorphisms comprise 5-HTT gene-linked polymorphism region (5-HTTLPR) and variable number of tandem repeats (VNTR). Studies have revealed an association between 5-HTT polymorphism and major depressive disorder, which suggests that the "S" allele of 5-HTTLPR and Stin2.9 of 5-HTTVNTR are associated with major depressive disorder. However, there are a number of studies that do not support the 5-HTT polymorphism effect in major depressive disorder. OBJECTIVE: To study the relationship between 5-HTT gene polymorphism and major depressive disorder in Chinese Han population. DESIGN, TIME AND SETTING: Case-controlled study of 5-HTT gene polymorphism. The experiment was performed at the Central Laboratory, Third Affiliated Hospital of Sun Yat-sen University, China from March 2005 to January 2006. PARTICIPANTS: A total of 99 depressive patients of Chinese Han nationality were recruited for this study. All patients met DSM-IV diagnostic criteria for major depressive disorder and had a total score of Hamilton Depression Scale (24 items) ≥21 points. In addition, 101 healthy subjects, matched for age and gender, served as the control group. METHODS: Venous blood was collected from all subjects. 5-HTT genotypes and alleles were determined by polymerase chain reaction. Consistent with the Hardy-Weinberg equilibrium, the association between 5-HTT gene polymorphism and major depressive disorder were analyzed by Chi-square test. MAIN OUTCOME MEASURES: 5-HTTLPR and 5-HTTVNTR genotypes and allele frequencies were measured. RESULTS: No significant differences in 5-HTTLPR genotypes and allele frequencies were determined between patients and controls (P 〉 0.05). However, significant differences in 5-HTTVNTR genotypes and allele frequencies were detected (P 〈 0.01 ). The Stin2.10 allele and 10/10 genotype associated with major depressive disorder (OR = 2.61,7.7, P 〈 0.05; analysis of dose-response relationships Х^2 = 12.35, P 〈 0.01). CONCLUSION: Results from the present study revealed no association between 5-HTTLPR and major depressive disorder. However, a significant association between 5-HTTVNTR and major depressive disorder existed in a population of Chinese Han. The presence of Stin2.10 and 10/10 genotypes increased the risk for major depressive disorder in a dose-dependent manner.