Analysis of serotonin receptor 1B gene single nucleotide polymorphisms in 155 Chinese Han men

OBJECTIVE:To investigate the genetic characteristics of single nucleotide polymorphisms( SNPs) in serotonin receptor 1B gene(HTR1B) in Chinese Han males. METHODS:SNPs located in HTR1 B were identified in 155 cases of target population through sequencing in this study. The genetic characteristics,linkage disequilibrium(LD) of each polymorphism locus,tag SNPs,haplotypes and their blocks were analyzed with HaploView software. RESULTS:Seven SNPs were obtained: rs17273700(-860AG),rs1228814(-700GT),rs11568817(-262 A C) and rs130058(-161TA) in the 5′-flanking region,rs6298(+129AG),rs6296(+861GC) in the coding region and rs6297(+1 180TC) in the 3′-flanking region. All the allele frequencies were in the Hardy-Weinberg equilibrium(P0.05). There were high LD between the polymorphisms of-860AG and-262AC. +129AG and +861GC also showed high LD in this population. Eight major haplotypes(H1-H8) accounting for 94.2% were established,while the frequency of wild type haplotype(H1) was 46.0%.-860AG,-700GT,-161 T A,+129AG,+1 180TC were determined as tag SNPs. Two haplotype blocks were constructed and-860 A G,+129AG were determined as their htSNPs. CONCLUSION:The appropriate tag SNPs and htSNPs in HTR1 B are established in Chinese Han males for the first time. It lowered the number of SNP loci in further research,and provided the basis for explorations of their a ssociation with diseases.