1.Correlation of 5-hydroxytryptamine transporter gene-linked polymorphic region with lifelong premature ejaculation: Progress in studies.
National Journal of Andrology 2018;24(3):268-271
Premature ejaculation (PE), as one of the most common male sexual dysfunctions, has a serious negative impact on the sexual satisfaction of the patients and their sexual partners. Lifelong PE is a most common type and a current focus of research as well. The etiology and pathogenesis of this disease are not yet clear and genetic factors are considered to be closely related to lifelong PE. Studies show that the 5-hydroxytryptamine transporter (5-HTT) gene plays an important role in the development and progression of lifelong premature ejaculation and the 5-HTT-linked polymorphic region (5-HTTLPR) has attracted much attention in recent years. This article presents an overview on the correlation between 5-HTTLPR and lifelong PE.
Adult
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Ejaculation
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Humans
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Male
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Polymorphism, Genetic
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Premature Ejaculation
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genetics
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Serotonin Plasma Membrane Transport Proteins
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genetics
2.Association of SLC6A4 gene c.*670T>G polymorphism with the risk for asthma and peripheral blood cytological characteristics among ethnic Zhuang Chinese population.
Gao CHEN ; Jianguo XU ; Shuai WEI ; Minlv MENG ; Chen LAN ; Chunru ZHAO ; Yingjiao MA
Chinese Journal of Medical Genetics 2023;40(10):1228-1235
OBJECTIVE:
To assess the association of SLC6A4 gene c.*670T>G polymorphism with the risk for asthma and peripheral blood cytological characteristics among ethnic Zhuang Chinese from Guangxi, China.
METHODS:
From May 2017 to March 2020, 258 patients diagnosed with asthma and 244 healthy controls were recruited from the Affiliated Hospital of Youjiang Minzhu Medical College and the People's Hospital of Hechi. Genotypes of the c.*670T>G polymorphism were determined by Sanger sequencing. Flow cytometry was used in combination with an electrical impedance method for the counting and classification of peripheral blood cells.
RESULTS:
Compared with the T allele, the G allele of the c.*670T>G polymorphism was associated with the risk for asthma in the population (OR = 1.54, 95%CI = 1.15-2.06; P = 0.004). Compared with the GT and TT genotypes, homozygous GG genotype also comprised a risk factor (OR = 1.66, 95%CI = 1.16-2.38; P = 0.005). Stratification of the risk factors showed that the homozygous GG genotype has increased the risk of asthma in males and urban residents (P < 0.01). The erythrocyte, hemoglobin and platelet counts of the asthma group were significantly higher than the control group (P < 0.001). The GG, GT and TT genotypes have respectively accounted for 82.35%, 17.65% and 0% of the samples with platelets exceeding the normal value. The overall platelet level of GG genotype was higher than GT+TT genotype (P < 0.05). The significant association was verified by the false positive report probability, and at a prior probability level of 0.1, G vs. T false positive probability was 0.071, and GG vs. GT+TT false positive probability was 0.153.
CONCLUSION
The GG genotype of the c.*670T>G polymorphism is associated with the risk for asthma among ethnic Zhuang Chinese from northwest Guangxi. Above finding has also enriched the genotypic data and peripheral blood phenotype for this polymorphism.
Male
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Humans
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East Asian People
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China
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Genotype
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Alleles
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Asthma/genetics*
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Serotonin Plasma Membrane Transport Proteins
3.Serotonin Transporter and Pharmacotherapy.
Se Joo KIM ; Jeong Ho SEOK ; Chan Hyung KIM
Korean Journal of Psychopharmacology 2006;17(3):263-272
The serotonin transporter (SERT) is the target site for serotonin reuptake inhibitors, which are the most widely used agents for treating various psychiatric diseases including depression. The SERT is a member of a large family of homologous integral membrane proteins. This transporter takes up 5-HT in a process that is coupled to the transmembrane movement of Na+, Cl-, and K+. The SERT may operate in at least two modes, an alternating access carrier or a channel. The function of SERT is acutely regulated by various protein kinases and phosphatases. The SERT gene is located on chromosome 17 and has several polymorphisms including 5-HTTLPR and intron 2 VNTR. Most studies involving the association between 5-HTTLPR and the response to SSRI in depression reported that l/l genotype showed better response and fewer side effects. But, it is too early to draw definite conclusion of the effects of 5-HTTLPR on anti-depressant treatment. Therefore, it is necessary to perform further studies reflecting various ethnicities and genetics of subjects as well as the environmental interactions. This review discusses recent advances in defining the structure, the action mechanism, the location, and the regulation of SERT. Furthermore, it discusses the function of SERT polymorphisms and its implications on the anti-depressant therapies.
Chromosomes, Human, Pair 17
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Depression
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Drug Therapy*
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Genetics
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Genotype
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Humans
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Introns
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Membrane Proteins
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Phosphoric Monoester Hydrolases
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Protein Kinases
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Serotonin Plasma Membrane Transport Proteins*
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Serotonin Uptake Inhibitors
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Serotonin*
4.Association between anxiety-depression and 5-HTTLPR gene polymorphism in school-aged twins.
Qiao ZHAO ; Yu-Ling LI ; Enherbayaer ; Yan LIU ; Yi DING
Chinese Journal of Contemporary Pediatrics 2016;18(1):61-66
OBJECTIVETo investigate the association between anxiety-depression and 5-HTTLPR gene polymorphism in school-aged twins.
METHODSA total of 147 pairs of twins (47 pairs of monozygotic twins, 100 pairs of dizygotic twins) aged 8-12 years from Baotou and Hohhot were selected as respondents. The Achenbach Child Behavior Checklist (CBCL) was used to calculate the scores of anxiety-depression factors in school-aged twins. The DNA was extracted from oral epithelial cells, and polymerase chain reaction was applied for 5-HTTLPR genotyping. The generalized estimating equation (GEE) was used to analyze the effect of 5-HTTLPR polymorphism and family environment on anxiety-depression in school-aged twins.
RESULTSThe children with LS and SS genotypes had significantly higher scores of anxiety-depression factors than those with LL genotype (χ2=3.938, P<0.05). The interaction of 5-HTTLPR genotype with family cohesion and family rearing patterns had a significant impact on the scores of anxiety-depression factors in twins (χ2=6.129 and 7.665, both P<0.05).
CONCLUSIONS5-HTTLPR genotype is significantly correlated with the scores of anxiety-depression factors in school-aged twins. In the family with high cohesion and an autocratic family rearing pattern, S allele may increase the possibility of anxiety-depression in twin children.
Anxiety ; genetics ; Child ; Depression ; genetics ; Female ; Genotype ; Humans ; Male ; Polymorphism, Genetic ; Serotonin Plasma Membrane Transport Proteins ; genetics ; Twins ; genetics
5.Establishment of heterologous expression model of hSERT in Xenopus laevis oocytes.
Yi-Ying WANG ; Zhu JIN ; Ci-Zhen LI ; Yuan-Mou LIU
Chinese Journal of Applied Physiology 2005;21(4):444-448
AIMTo determine the feasibility of establishing the heterologous expression model of human- serotonin transporter(hSERT or 5-HTT).
METHODScRNA of SERT was transcribed from cDNA, which was cloned in the pOTV vector. Each oocyte of mature xenopus laevis was injected with transcribed cRNA in vivo and incubated at room temperature for 4-9 days. Recording the current induced by 5-HT with voltage clamp technique tested the function of the expressed 5-HT transporter.
RESULTSThe transporter current could be observed in Ringer's solution containing 5-HT, and the 5-HT induced current were concentration-dependent. Norepinephrine and dopamine could not induce the transporter current while the 5-HT induced current could be specifically inhibited by 5-HTT blocker, desipramine.
CONCLUSIONThe results demonstrate that the heterologous expression product in xenopus laevis oocytes is human 5-HT transporter.
Animals ; Carrier Proteins ; genetics ; DNA, Complementary ; genetics ; Female ; Gene Expression ; Models, Animal ; Oocytes ; metabolism ; RNA, Messenger ; genetics ; Serotonin ; metabolism ; Serotonin Plasma Membrane Transport Proteins ; biosynthesis ; genetics ; Xenopus laevis
6.The value of 5-HTT gene polymorphism for the assessment and prediction of male adolescence violence.
Yue YU ; Xiang LIU ; Zhen-xing YANG ; Chang-jian QIU ; Xiao-hong MA
Chinese Journal of Medical Genetics 2012;29(4):468-473
OBJECTIVETo establish an adolescent violence crime prediction model, and to assess the value of serotonin transporter (5-HTT) gene polymorphism for the assessment and prediction of violent crime.
METHODSInvestigative tools were used to analyze the difference in personality dimensions, social support, coping styles, aggressiveness, impulsivity, and family condition scale between 223 adolescents with violence behavior and 148 adolescents without violence behavior. The distribution of 5-HTT gene polymorphisms (5-HTTLPR and 5-HTTVNTR) was compared between the two groups. The role of 5-HTT gene polymorphism on adolescent personality, impulsion and aggression scale also was also analyzed. Stepwise logistic regression was used to establish a predictive model for adolescent violent crime.
RESULTSSignificant difference was found between the violence group and the control group on multiple dimensions of psychology and environment scales. However, no statistical difference was found with regard to the 5-HTT genotypes and alleles between adolescents with violent behaviors and normal controls. The rate of prediction accuracy was not significantly improved when 5-HTT gene polymorphism was taken into the model.
CONCLUSIONThe violent crime of adolescents was closely related with social and environmental factors. No association was found between 5-HTT polymorphisms and adolescent violence criminal behavior.
Adolescent ; Adolescent Behavior ; psychology ; Crime ; psychology ; Humans ; Male ; Polymorphism, Genetic ; Serotonin Plasma Membrane Transport Proteins ; genetics ; Violence ; psychology
7.No Association between 5-HTTLPR and Harm Avoidance in Korean College Students.
Yeon Ho JOO ; Heung Bum OH ; Byungsu KIM ; Suk Hoon JUNG ; Jun Kyu CHUNG ; Jin Pyo HONG ; Chang Yoon KIM
Journal of Korean Medical Science 2007;22(1):138-141
There have been numerous studies on the association between 5-HTTLPR (polymorphisms in the promoter region of the serotonin transporter gene) and anxietyrelated personality traits, with conflicting results. In this study, we administered Korean version of the Temperament and Character Inventory (K-TCI) to a sample of 158 Korean college students and genotyped for the 5-HTTLPR in order to compare the TCI dimensional scores including harm avoidance according to the 5-HTTLPR genotype and sex. We could not find the association between 5-HTTLPR and harm avoidance and other TCI measures. Considering known allele frequencies differences of 5-HTTLPR among different ethnic groups, further cross-cultural studies with a larger sample would be needed.
Temperament
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Serotonin Plasma Membrane Transport Proteins/*genetics
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Personality
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Male
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Humans
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*Harm Reduction
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Genotype
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Female
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Exploratory Behavior
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Adult
8.Correlation between curative effect and 5-HTTLPR polymorphism in treatment of diarrhea-predominant irritable bowel syndrome with acupuncture for regulating
Jing GUO ; Jian-Hua SUN ; Lu CHEN ; Hao GENG ; Xiao-Liang WU ; Ya-Fang SONG ; Guo-Hui YANG ; Rong-Rong SHEN ; Min DING ; Jin LU ; Lian LIU ; Xiang-Dong FANG ; Li-Xia PEI
Chinese Acupuncture & Moxibustion 2021;41(4):365-370
OBJECTIVE:
To compare the curative effect on diarrhea-predominant irritable bowel syndrome (IBS-D) between acupuncture for regulating
METHODS:
A total of 231 patients with IBS-D were randomized into an acupuncture group (154 cases) and a western medication group (77 cases) at the ratio of 2 to 1. In the acupuncture group, acupuncture was applied to acupoint regimen for regulating
RESULTS:
After treatment and in follow-up, the total scores of IBS-SSS in the patients of the two groups were all reduced as compared with those before treatment (
CONCLUSION
Acupuncture for regulating
Acupuncture Therapy
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Diarrhea/therapy*
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Humans
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Irritable Bowel Syndrome/therapy*
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Quality of Life
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Serotonin Plasma Membrane Transport Proteins/genetics*
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Spleen
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Treatment Outcome
9.Risk Factors of Depression Screened by Two-Sample Mendelian Randomization Analysis: A Systematic Review.
Han Lin WANG ; Yan Feng XUE ; Bao Qiu CUI ; Hong LIU ; Xin Xin SHEN
Biomedical and Environmental Sciences 2024;37(1):85-95
OBJECTIVE:
This study explored the potentially modifiable factors for depression and major depressive disorder (MDD) from the MR-Base database and further evaluated the associations between drug targets with MDD.
METHODS:
We analyzed two-sample of Mendelian randomization (2SMR) using genetic variant depression ( n = 113,154) and MDD ( n = 208,811) from Genome-Wide Association Studies (GWAS). Separate calculations were performed with modifiable risk factors from MR-Base for 1,001 genomes. The MR analysis was performed by screening drug targets with MDD in the DrugBank database to explore the therapeutic targets for MDD. Inverse variance weighted (IVW), fixed-effect inverse variance weighted (FE-IVW), MR-Egger, weighted median, and weighted mode were used for complementary calculation.
RESULTS:
The potential causal relationship between modifiable risk factors and depression contained 459 results for depression and 424 for MDD. Also, the associations between drug targets and MDD showed that SLC6A4, GRIN2A, GRIN2C, SCN10A, and IL1B expression are associated with an increased risk of depression. In contrast, ADRB1, CHRNA3, HTR3A, GSTP1, and GABRG2 genes are candidate protective factors against depression.
CONCLUSION
This study identified the risk factors causally associated with depression and MDD, and estimated 10 drug targets with significant impact on MDD, providing essential information for formulating strategies to prevent and treat depression.
Humans
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Depressive Disorder, Major/genetics*
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Depression
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Genome-Wide Association Study
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Mendelian Randomization Analysis
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Risk Factors
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Serotonin Plasma Membrane Transport Proteins
10.Association of serotonin and norepinephrine transporter gene polymorphisms with the susceptibility to depression.
Wen-jiao MIN ; Xiao-hong MA ; Tao LI ; Bo ZHANG ; Xue-li SUN
Chinese Journal of Medical Genetics 2009;26(4):388-392
OBJECTIVETo determine whether the serotonin transporter (5-HTT) and norepinephrine transporter (NET) gene polymorphisms were associated with the susceptibility to depression.
METHODSFive hundred and seventy-nine patients with depression, evaluated using a 17-item Hamilton Depression Rating Scale for Depression (HAMD), and 437 healthy controls, all of Chinese Han origin, were genotyped by polymerase chain reaction.
RESULTSBoth genotype distributions (P=0.033) and allele frequencies (P=0.023, OR = 1.250, 95% CI = 1.031-1.517) of NET-T182C were significantly different between patients and controls, where the T allele was associated with the onset of depression. Both NET-T182C T- and 5- HTTLPR L-carriers had higher baseline HAMD scores (P=0.032 and 0.023, respectively). There was an interaction between NET-T182C and 5-HTTLPR, where the combined genotype distributions were associated with both onset of depression (P=0.006) and the baseline HAMD scores (P=0.007).
CONCLUSIONThis study suggested a positive relationship between the NET-T182C polymorphism and the susceptibility to depression, and a positive relationship between NET-T182C/5-HTTLPR polymorphisms and the severity of depression.
Adult ; Case-Control Studies ; Depression ; genetics ; Disease Susceptibility ; Female ; Genetic Association Studies ; Humans ; Male ; Middle Aged ; Norepinephrine Plasma Membrane Transport Proteins ; genetics ; Polymorphism, Genetic ; Serotonin Plasma Membrane Transport Proteins ; genetics ; Young Adult