BDNF rs 6265 polymorphism and COMT rs 4680 polymorphism in deficit schizophrenia in Polish sample

Pełka-Wysiecka, Justyna; Wroński, Michał; Jasiewicz, A; Grzywacz, Anna; Tybura, Piotr; Kucharska-Mazur, Jolanta; Bieńkowski, Przemysław; Samochowiec, Jerzy

doi:10.1016/s1734-1140(13)71476-2

Cited by 36 publications

(22 citation statements)

References 51 publications

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“…Our results are in agreement with the results of some authors who showed the absence of an associa tion of BDNF gene polymorphic loci with schizophre nia development in Japanese [25] and Poles [26]. On the contrary, other researchers were able to find asso ciations of the studied BDNF gene polymorphic loci with schizophrenia development [27][28][29][30][31].…”

Section: Discussionsupporting

confidence: 93%

The role of neurotrophins and neurexins genes in the risk of paranoid schizophrenia in Russians and Tatars

et al. 2015

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Schizophrenia affects about 1% of the population. Its etiology is not fully understood. Environ mental conditions certainly contribute to the development of schizophrenia, but the determining factor is genetic predisposition: the coefficient of heritability of schizophrenia is about 80%, which is typical for the most highly heritable multifactorial diseases. Polymorphic loci of genes of enzymes and receptors involved in the processes of neuroprotection and neurotrophia play significant role in the development of this disease. In this paper we investigated 48 polymorphic variants of genes of the neurotrophins and neurexins family (BDNF, NTRK2, NTRK3, NGF, NXPH1, and NRXN1) in Russian and Tatar cases and in a control group liv ing in the Republic of Bashkortostan. The results of this study confirm the important role of neurotrophin and neurexin genes in paranoid schizophrenia development.

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Section: Discussionsupporting

confidence: 93%

The role of neurotrophins and neurexins genes in the risk of paranoid schizophrenia in Russians and Tatars

et al. 2015

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“…Galderisi et al [223,224] found no association between the same polymorphism and either schizophrenia or its DS/ NDS subtypes. Pełka-Wysiecka et al [203] found a higher frequency of the Val158 allele in NDS subjects and no association of BDNF SNP with DS/NDS subtypes.…”

Section: Studies Of Genetic Risk For Ds or Empirically Identified Ds-mentioning

confidence: 96%

“…Some evidence suggests that the genetic basis of schizophrenia may differ between patients with distinct clinical profiles [199][200][201][202][203]. Genes might increase susceptibility to distinct clinical subtypes of the illness or may influence clinical features of the disease in a dimensional fashion, without altering liability to the illness itself (modifier loci).…”

Section: Genetic Studiesmentioning

confidence: 99%

Neurobiological background of negative symptoms

Galderisi

Merlotti

Mucci

2015

Eur Arch Psychiatry Clin Neurosci

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Studies investigating neurobiological bases of negative symptoms of schizophrenia failed to provide consistent findings, possibly due to the heterogeneity of this psychopathological construct. We tried to review the findings published to date investigating neurobiological abnormalities after reducing the heterogeneity of the negative symptoms construct. The literature in electronic databases as well as citations and major articles are reviewed with respect to the phenomenology, pathology, genetics and neurobiology of schizophrenia. We searched PubMed with the keywords "negative symptoms," "deficit schizophrenia," "persistent negative symptoms," "neurotransmissions," "neuroimaging" and "genetic." Additional articles were identified by manually checking the reference lists of the relevant publications. Publications in English were considered, and unpublished studies, conference abstracts and poster presentations were not included. Structural and functional imaging studies addressed the issue of neurobiological background of negative symptoms from several perspectives (considering them as a unitary construct, focusing on primary and/or persistent negative symptoms and, more recently, clustering them into factors), but produced discrepant findings. The examined studies provided evidence suggesting that even primary and persistent negative symptoms include different psychopathological constructs, probably reflecting the dysfunction of different neurobiological substrates. Furthermore, they suggest that complex alterations in multiple neurotransmitter systems and genetic variants might influence the expression of negative symptoms in schizophrenia. On the whole, the reviewed findings, representing the distillation of a large body of disparate data, suggest that further deconstruction of negative symptomatology into more elementary components is needed to gain insight into underlying neurobiological mechanisms.

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“…According to our examination of the literature, the involvement of rs10770141 in the onset of schizophrenia has been suggested, but most of the prior studies failed to demonstrate a significant genetic association [25]. In addition, rs4680 has been reported to have a 8 significant association with schizophrenia [26], but this finding was not always supported [27]. The results of studies focusing on rs1800497 also indicated that its association with schizophrenia remains controversial [28,29].…”

Section: Discussionmentioning

confidence: 95%

Genetic risks of schizophrenia identified in a matched case-control study

Oishi

Niitsu

Kanahara

et al. 2019

Preprint

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BackgroundGenetic association studies of schizophrenia may be confounded by the pathological heterogeneity and multifactorial nature of this disease. We demonstrated previously that combinations of the three functional single nucleotide polymorphisms (SNPs) rs10770141 of tyrosine hydroxylase (TH) gene, rs4680 of catechol-O-methyltransferase (COMT) gene, and rs1800497 of dopamine D2 receptor (DRD2) gene may be associated with schizophrenia onset, and we tested those associations herein. Methods: We conducted a secondary study of 2,542 individuals in age- and sex-matched case-control populations. The schizophrenia diagnosis was based on the DSM-IV. To reduce the influence of confounders (age and sex), we performed a propensity score matching analysis. Genotyping and associative analyses of rs10770141, rs4680, and rs1800497 with schizophrenia were performed. Results: We analyzed 1,271 schizophrenics (male/female: 574/698; age 47.4±13.9 years) and 1,271 matched controls (male/female: 603/669; age 46.5±13.4 years). The estimated odds ratios (ORs) were 1.245 (p<0.001) for rs4680, 1.727 (p<0.0001) for rs1800497, and 1.788 (p<0.0001) for rs10770141. Double SNP analyses revealed the ORs of 2.010 (p<0.0001) for the combination of rs4680*rs1800497, 1.871 (p<0.001) for rs1800497*rs10770141, and 1.428 (p=0.068) for rs4680*rs1800497. Among the individuals with any of the three double SNP risk combinations (which accounted for 35.8% of the involved patients), the estimated OR was 2.224 (p<0.0001). Conclusions: In this validation study, the combinations of functional polymorphisms related to dopaminergic genes were associated with the development of schizophrenia. Analyzing combinations of functional polymorphisms with the control of possible confounders may provide new insights for association research.

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BDNF rs 6265 polymorphism and COMT rs 4680 polymorphism in deficit schizophrenia in Polish sample

Abstract: The analysis of the COMT rs4680 polymorphism in the present DS and NDS study shows that some genetic factors may be relevant in analyzing the reasons for the differentiation of schizophrenic subtypes.

Cited by 36 publications

References 51 publications

The role of neurotrophins and neurexins genes in the risk of paranoid schizophrenia in Russians and Tatars

The role of neurotrophins and neurexins genes in the risk of paranoid schizophrenia in Russians and Tatars

Neurobiological background of negative symptoms

Genetic risks of schizophrenia identified in a matched case-control study

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