ABSTRACT
Objective To investigate whether polymorphism of 102 T/C in 5-HTR2A (serotonin receptor 2A) are associated with Tourette syndrome (TS) in Chinese Han population or none.Methods A total of 101 TS patients and their parents were recruited for the study.The genetic contributions of the 5-HTR-2A 102 T/C polymorphism in 5HTR2A were evaluated using polymerase chain reaction and restriction enzyme digestion (PCRRFLP) and haplotype relative risk (HRR) and transmission disequilibrium test (TDT) statistics.Results The results revealed no significant associations between the 5-HTR-2A 102 T/C polymorphism and TS (HTR-2A 102T/C,TDT =0.353,df=1,P =0.621 ;HRR =1.127,x2 =0.358,P =0.550,95％ CI:0.762-1.666).Conclusion The data suggest that the HTR-2A 102 T/C polymorphism may not be associated with susceptibility to TS in the Chinese Han population.However,these results need to be replicated using larger datasets collected from different populations.
ABSTRACT
Objective To investigate the association of PGC-1 α gene single nucleotide polymorphisms (SNPs) with type 2 diabetes mellitus in Southern China Han population. Methods 350 patients with type 2 diabetes mellitus and their parents and 366 normal Han volunteers were recruited in the study. Their blood specimens were collected to extract the genornic DNA. Thr394Thr(G/A), Gly482Ser(G/A), Thr528Thr(A/G) and Thr612Met (C/T) genotypes were identified by PCR-RFLP and DNA direct sequencing. The possible association was analyzed between diabetic patients with the specific cSNPs and their haplotypes by case-control and haplotype relative risk (HRR) and transmission disequilibrium test (TDT) methods. Results (1) The case- control study indicated that G and A allele frequencies of PGC-1 α gene Gly482Ser variant were 0.589, 0.411 in type 2 diabetic group and 0.687, 0.313 in normal group respectively (X<'2> = 15.076, P < 0.01). The allele frequencies of Thr394Thr, Thr528Thr, Thr612Met polymorphisms did not show significant difference between twogroups respectively (all P > 0.05). The distributions of Thr394Thr-Gly482Ser-Thr528Thr haplotypes in the diabetic group were significanly different from the controls (X<'2> = 40.2, P < 0.05) and had a linkage disequilibrium with type 2 diabetes mellitus (t = 2.503, P < 0.05). (2) The family-basod studies showed that 482A allele was transmitted more significantly both via TDT and extended TDT from heterozygous parents to patients than expected respectively (all P < 0.05). HRR also supported that the 482A allele was more often transmitted to patients than predicted by chance (X<'2> = 7.217, P = 0.007, HRR = 1. 450). TDT analyses of haplotypes suggested that the frequencies of 394A-482A-528A-612C,394A-482A-528A-612T, 394A-482A-528G-612C and 394A-482A-528G- 612T haplotypes significantly deviated from 0.5 (P < 0.05 or P < 0.01). Conclusion In Southern China Hanpopulation, type 2 diabetes mellitus is associated with the Gly482Ser variant of PGC-1α gene, and Thr394Thr (G/ A) variant of PGC-1α gene appears to play an auxiliary role in this association.