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Polymorphisms in the human serotonin receptor 1B (HTR1B) gene are associated with schizophrenia: a case control study.

ABSTRACT: BACKGROUND:Schizophrenia is associated with multiple neurotransmitter disorders, including serotonin (5-hydroxytryptamine, 5-HT). The neuromodulatory action of serotonin on brain function largely depends on the action of specific subtypes of serotonin receptors. The serotonin receptor 1B (HTR1B) gene has been proposed to play putative roles in the development of multiple emotional and psychiatric disorders. METHODS:To study the relationship of HTR1B polymorphisms and schizophrenia, gene information was drawn from a cohort of 310 schizophrenic patients (152 men and 158 women) and 313 healthy controls (153 men and 160 women) of northern Han Chinese descent. The ?2 test was used to compare allele and genotype distributions between case and control groups. The haplotype and linkage equilibrium were also assessed in two group comparisons. RESULTS:We detected 14 SNPs. Male patients were observed to have higher frequencies of the A-allele and AA+AG genotype at rs1778258 than female patients (p?=?0.012 and p?=?0.015, respectively). Both the A-allele and AA+AG genotype were associated with schizophrenia risk (OR?=?1.986 and OR?=?2.061, respectively), although the statistical significance of the genotype was lost after Bonferroni correction. Linkage analysis showed that rs17273700, rs11568817, rs9361234 and rs58138557 polymorphisms exhibit strong linkage disequilibrium (LD). In addition, schizophrenic patients show stronger linkage between 11,568,817 and rs130058 than healthy controls. CONCLUSIONS:HTR1B polymorphisms are associated with schizophrenia in the northern Han Chinese population, which provides an etiological reference for schizophrenia.

SUBMITTER: Xia X

PROVIDER: S-EPMC6146515 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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Polymorphisms in the human serotonin receptor 1B (HTR1B) gene are associated with schizophrenia: a case control study.

Xia Xi X Ding Mei M Xuan Jin-Feng JF Xing Jia-Xin JX Pang Hao H Wang Bao-Jie BJ Yao Jun J

BMC psychiatry 20180919 1

<h4>Background</h4>Schizophrenia is associated with multiple neurotransmitter disorders, including serotonin (5-hydroxytryptamine, 5-HT). The neuromodulatory action of serotonin on brain function largely depends on the action of specific subtypes of serotonin receptors. The serotonin receptor 1B (HTR1B) gene has been proposed to play putative roles in the development of multiple emotional and psychiatric disorders.<h4>Methods</h4>To study the relationship of HTR1B polymorphisms and schizophrenia ...[more]

PMID: 30231895

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Project description:BACKGROUND:The 5-hydroxytryptamine 1B receptor (5-HT1B) plays an essential role in the serotonin (5-HT) system and is widely involved in a variety of brain activities. HTR1B is the gene encoding 5-HT1B. Genome-wide association studies have shown that HTR1B polymorphisms are closely related to multiple mental and behavioral disorders; however, the functional mechanisms underlying these associations are unknown. This study investigated the effect of several HTR1B haplotypes on regulation of gene expression in vitro and the functional sequences in the 5' regulatory region of HTR1B to determine their potential association with mental and behavioral disorders. METHODS:Six haplotypes consisting of rs4140535, rs1778258, rs17273700, rs1228814, rs11568817, and rs130058 and several truncated fragments of the 5' regulatory region of HTR1B were transfected into SK-N-SH and HEK-293 cells. The relative fluorescence intensities of the different haplotypes and truncated fragments were detected using a dual-luciferase reporter assay system. RESULTS:Compared to the major haplotype T-G-T-C-T-A, the relative fluorescence intensities of haplotypes C-A-T-C-T-A, C-G-T-C-T-A, C-G-C-A-G-T, and C-G-T-A-T-A were significantly lower, and that of haplotype C-G-C-A-G-A was significantly higher. Furthermore, the effects of the rs4140535T allele, the rs17273700C-rs11568817G linkage combination, and the rs1228814A allele made their relative fluorescence intensities significantly higher than their counterparts at each locus. Conversely, the rs1778258A and rs130058T alleles decreased the relative fluorescence intensities. In addition, we found that regions from -?1587 to -?1371?bp (TSS, +?1), -?1149 to -?894?bp, -?39 to +?130?bp, +?130 to +?341?bp, and?+?341 to +?505?bp upregulated gene expression. In contrast, regions -?603 to -?316?bp and?+?130 to +?341?bp downregulated gene expression. Region +?341 to +?505?bp played a decisive role in gene transcription. CONCLUSIONS:HTR1B 5' regulatory region polymorphisms have regulatory effects on gene expression and potential correlate with several pathology and physiology conditions. This study suggests that a crucial sequence for transcription is located in region +?341?~?+?505?bp. Regions -?1587 to -?1371?bp, -?1149 to -?894?bp, -?603 to -?316?bp, -?39 to +?130?bp, and?+?130 to +?341?bp contain functional sequences that can promote or suppress the HTR1B gene expression.

Dataset Information

Polymorphisms in the human serotonin receptor 1B (HTR1B) gene are associated with schizophrenia: a case control study.

Publications

Polymorphisms in the human serotonin receptor 1B (HTR1B) gene are associated with schizophrenia: a case control study.

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