M. Cengiz , G. Karacetin , M. Topal , M.E. Yuksel , T. Eseroglu , G.B. Akdeniz , T. Demir , M. Erkiran , A. Dirican , B. Bayoglu
{"title":"COMT rs4680和DRD2 rs6275变异及其与早发性双相情感障碍儿童YMRS评分的相关性","authors":"M. Cengiz , G. Karacetin , M. Topal , M.E. Yuksel , T. Eseroglu , G.B. Akdeniz , T. Demir , M. Erkiran , A. Dirican , B. Bayoglu","doi":"10.1016/j.ejpsy.2022.07.003","DOIUrl":null,"url":null,"abstract":"<div><h3>Background and objectives</h3><p><span><span>Bipolar disorder (BD) is a clinical status with at least one manic, hypomanic or mixed attacks. </span>Genetic factors<span> take part significantly in early-onset BD (EOBD). Dopamine receptors (DRD) act in neurological mechanisms like motivation, learning, memory, and, control of neuroendocrine signaling. DRD2 receptor has been reported to influence the stability of </span></span><em>DRD2</em><span> transcript. Catechol-O-Methyl transferase (COMT) inactivates catecholamines and Val158Met variation on </span><em>COMT</em> has effects on COMT activity. This study aims to explore <em>DRD2</em> and <em>COMT</em> variants in the clinical development of EOBD.</p></div><div><h3>Methods</h3><p>In this case-control study, 102 EOBD patients and 168 healthy control subjects were used. <em>DRD2</em> rs6275 and <em>COMT</em><span> Val158Met variations were detected by real-time polymerase chain reaction (RT-PCR). Young Mania Rating Scale (YMRS) was utilized to determine the EOBD severity.</span></p></div><div><h3>Results</h3><p>For <em>DRD2</em> rs6275 and <em>COMT</em> Val158Met polymorphisms, no significant relationship was observed in the genotype and allele frequencies between patient and control groups. Nevertheless, TT genotype carriers of <em>DRD2</em> rs6275 polymorphism demonstrated significantly increased YMRS scores when compared with CC and CT genotype carriers (<em>p</em> = 0.039). Nevertheless, no significant difference was observed between <em>COMT</em> Val158Met genotypes and YMRS scores.</p></div><div><h3>Conclusions</h3><p>We suggest that the <em>DRD2</em><span> rs6275 TT variant can be associated with symptom severity in children with EOBD and can have a clinical significance in EOBD pathogenesis. However, these results need to be confirmed with larger samples of patient and control groups.</span></p></div>","PeriodicalId":12045,"journal":{"name":"European Journal of Psychiatry","volume":"37 1","pages":"Pages 8-14"},"PeriodicalIF":2.5000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"COMT rs4680 and DRD2 rs6275 variants and their association with YMRS scores in children with early-onset bipolar disorder\",\"authors\":\"M. Cengiz , G. Karacetin , M. Topal , M.E. Yuksel , T. Eseroglu , G.B. Akdeniz , T. Demir , M. Erkiran , A. Dirican , B. Bayoglu\",\"doi\":\"10.1016/j.ejpsy.2022.07.003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background and objectives</h3><p><span><span>Bipolar disorder (BD) is a clinical status with at least one manic, hypomanic or mixed attacks. </span>Genetic factors<span> take part significantly in early-onset BD (EOBD). Dopamine receptors (DRD) act in neurological mechanisms like motivation, learning, memory, and, control of neuroendocrine signaling. DRD2 receptor has been reported to influence the stability of </span></span><em>DRD2</em><span> transcript. Catechol-O-Methyl transferase (COMT) inactivates catecholamines and Val158Met variation on </span><em>COMT</em> has effects on COMT activity. This study aims to explore <em>DRD2</em> and <em>COMT</em> variants in the clinical development of EOBD.</p></div><div><h3>Methods</h3><p>In this case-control study, 102 EOBD patients and 168 healthy control subjects were used. <em>DRD2</em> rs6275 and <em>COMT</em><span> Val158Met variations were detected by real-time polymerase chain reaction (RT-PCR). Young Mania Rating Scale (YMRS) was utilized to determine the EOBD severity.</span></p></div><div><h3>Results</h3><p>For <em>DRD2</em> rs6275 and <em>COMT</em> Val158Met polymorphisms, no significant relationship was observed in the genotype and allele frequencies between patient and control groups. Nevertheless, TT genotype carriers of <em>DRD2</em> rs6275 polymorphism demonstrated significantly increased YMRS scores when compared with CC and CT genotype carriers (<em>p</em> = 0.039). Nevertheless, no significant difference was observed between <em>COMT</em> Val158Met genotypes and YMRS scores.</p></div><div><h3>Conclusions</h3><p>We suggest that the <em>DRD2</em><span> rs6275 TT variant can be associated with symptom severity in children with EOBD and can have a clinical significance in EOBD pathogenesis. However, these results need to be confirmed with larger samples of patient and control groups.</span></p></div>\",\"PeriodicalId\":12045,\"journal\":{\"name\":\"European Journal of Psychiatry\",\"volume\":\"37 1\",\"pages\":\"Pages 8-14\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Journal of Psychiatry\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0213616322000581\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PSYCHIATRY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Psychiatry","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0213616322000581","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PSYCHIATRY","Score":null,"Total":0}
COMT rs4680 and DRD2 rs6275 variants and their association with YMRS scores in children with early-onset bipolar disorder
Background and objectives
Bipolar disorder (BD) is a clinical status with at least one manic, hypomanic or mixed attacks. Genetic factors take part significantly in early-onset BD (EOBD). Dopamine receptors (DRD) act in neurological mechanisms like motivation, learning, memory, and, control of neuroendocrine signaling. DRD2 receptor has been reported to influence the stability of DRD2 transcript. Catechol-O-Methyl transferase (COMT) inactivates catecholamines and Val158Met variation on COMT has effects on COMT activity. This study aims to explore DRD2 and COMT variants in the clinical development of EOBD.
Methods
In this case-control study, 102 EOBD patients and 168 healthy control subjects were used. DRD2 rs6275 and COMT Val158Met variations were detected by real-time polymerase chain reaction (RT-PCR). Young Mania Rating Scale (YMRS) was utilized to determine the EOBD severity.
Results
For DRD2 rs6275 and COMT Val158Met polymorphisms, no significant relationship was observed in the genotype and allele frequencies between patient and control groups. Nevertheless, TT genotype carriers of DRD2 rs6275 polymorphism demonstrated significantly increased YMRS scores when compared with CC and CT genotype carriers (p = 0.039). Nevertheless, no significant difference was observed between COMT Val158Met genotypes and YMRS scores.
Conclusions
We suggest that the DRD2 rs6275 TT variant can be associated with symptom severity in children with EOBD and can have a clinical significance in EOBD pathogenesis. However, these results need to be confirmed with larger samples of patient and control groups.
期刊介绍:
The European journal of psychiatry is a quarterly publication founded in 1986 and directed by Professor Seva until his death in 2004. It was originally intended to report “the scientific activity of European psychiatrists” and “to bring about a greater degree of communication” among them. However, “since scientific knowledge has no geographical or cultural boundaries, is open to contributions from all over the world”. These principles are maintained in the new stage of the journal, now expanded with the help of an American editor.