Distribution Of 5-HTTLPR In Xinjiang Uygur,Kazak,Mongol Ethnic Group And Analysis Of Association With Anxiety Disorder

The 5-hydroxytrypamine transporter(5-HTT) is involved in the instrumental in the regulation of serotonergic activity, and is the major determinant of serotonin reuptake following release at synapses and it is a target for selective serotonin reuptake inhibitors(SSRIs) antidepressant treatments. The human serotonin transporter gene is mapped to the q11.1-12 region of the long arm of chromosome 17, consists of 14 exons, and constitutes about 35 kb of the genomic DNA. Recently, A particularly attention is drawn to the study of the deletion-insertion polymorphism in the promoter region of the serotonin transporter (5-HTT gene-linked polymorphic region, 5-HTTLPR). Two alleles, S and L were found in this locus, which might modulate transcriptional activity of the serotonin transporter gene, yielding differences in 5-HTT gene mRNA and protein density, and 5-HT uptake activity in human lymphoblastoid cells, platelets, and brain. That the S variant is associated with lower 5-HTT expression and function has been confirmed by studies of 5-HTT promoter activity in other cell lines, mRNA concentra-tions in the raphe complex of human postmortem brain, platelet 5-HT uptake and content. Some difference in genotype and allele frequencies distribution of the 5-HTTLPR was seen among the different populations. A predominantly North American/European population displayed allele frequencies of 57% for the L allele and 43% for the S allele with a 5-HTTLPR genotype distribution of 32%LL, 49%LS, and 19%SS, different allele and genotype distributions are found in other populations, particularly Asians who have higher S frequencies. Besides there are many studies about association of 5-HTTLPR with a variety of mental illness, especially anxiety disorder. Here our study has two part.Partâ… A study on the Serotonin Transporter-linked Promoter Region Polymorphism in Xinjiang Uygur, Kazak, Mongol Ethnic GroupObjective: to investigate allele frequency Distribution of 5-HTTLPR in Xinjiang Uygur, Kazak, Mongol Ethnic Group, comparing it with other populations. Methods: The insertion/deletion polymorphism of the serotonin transporter-linked promoter region (5-HTTLPR) was studied using the polymerase chain reaction(PCR)in Xinjiang Uygur,Kazak,Mongol ethnic group. Results: The two alleles of 484bp(S) and 528bp(L) were obseroved ,and alleles of 616bp(xL) was detected in two of Uygur. X2 test indicated that their distribution of genotypes were consistent with Hardy-Weinberg equillibrium(P > 0.05). Statistical analysis showed the followings:Observed heterozygosity(Hobs),expected heterozygosity(Hexp) and polymorphism information of 5-HTTLPR from Uygur ethnic group were 0.4167,0.4845 and 0.3759; and those from Kazak ethnic group were 0.4141,0.4338 and 0.3396;and those from Mongol ethnic group were 0.4639,0.4386 and 0.3425. Conclusions: there were no significant differencies on the distributions of 5-HTTLPR genotype and allele frequencies among three ehhnic group, and short allele S has a higher frequency,which is similarly with Asians, such as Chinese, Japanese and Korean population, but significant differences with German, Whites(USA) and Afrian-American(P<0.01). The result provide important group genetics information for forensic identification, anthropological and disease association studies.Partâ…¡Association study of anxiety disorder and serotonin transporter promoter gene polymorphic regionObjective: To explore the association between anxiety disorder and polymorphism of serotonin transporter promoter gene(5-HTTLPR) in Xinjiang Uygur group.Methods: Using a polymerase chain reaction-based technique,5-HTTLPR genotypes were determined in 38 patients with anxiety disorder and 108 health control subjects.The allelic and genotypic distributions in two groups were compared. Results: The frequencies of the S or L alleles in promoter region of 5-HTT gene in patients with anxiety disorder were not significantly different to those in healtlIy controls(P>0.05). Moreover, the frequency of the S/L genotype of 5-HTTLPR in patients was significantly higher than that in healthy control. Conclusions: The 5-HTTLPR polymorphisms may not be associated with anxiety disorder in Xinjiang Uygur group.