The “missing heritability”—Problem in psychiatry: Is the interaction of genetics, epigenetics and transposable elements a potential solution?

Calker, Dietrich van; Serchov, Tsvetan

doi:10.1016/j.neubiorev.2021.03.019

Cited by 14 publications

(9 citation statements)

References 297 publications

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“…The top three citing papers in this cluster were authored by Roy et al [109] (coverage = 12, GCS = 31), van Calker and Serchov [110] (coverage = 11, GCS = 3), and Shi et al [111] (coverage = 8, GCS = 8). A brief survey of these citing papers showed that like cluster #3, this cluster focuses on epigenetic effects of miRNA (e.g., Smigielski et al [112] with a coverage = 7 and GCS = 53; Kuehner et al [113] with a coverage = 6 and GCS = 69; Gürel et al [114] with a coverage = 4 and GCS = 11).…”

Section: Cluster #5: Circular Rnamentioning

confidence: 99%

“…The third largest, and also the most recent, cluster has the following top citing papers: van Calker and Serchov [110] (coverage = 14, GCS = 3), Tsermpini et al [118] (coverage = 11, GCS = 0), and Ghafouri-Fard et al [119] (coverage = 11, GCS = 6). However, the label from this cluster stems from several citing papers that used a bioinformatics approach (e.g., Sabaie et al [120] with a coverage = 8 and GCS = 3, Sabaie et al [121] with a coverage = 7 and GCS = 0, and Jin et al [122] with a coverage = 5 and GCS = 0).…”

Section: Cluster #2: Bioinformatics Analysismentioning

confidence: 99%

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Mapping miRNA Research in Schizophrenia: A Scientometric Review

Lim

Carollo

Neoh

et al. 2022

IJMS

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Micro RNA (miRNA) research has great implications in uncovering the aetiology of neuropsychiatric conditions due to the role of miRNA in brain development and function. Schizophrenia, a complex yet devastating neuropsychiatric disorder, is one such condition that had been extensively studied in the realm of miRNA. Although a relatively new field of research, this area of study has progressed sufficiently to warrant dozens of reviews summarising findings from past to present. However, as a majority of reviews cannot encapsulate the full body of research, there is still a need to synthesise the diversity of publications made in this area in a systematic but easy-to-understand manner. Therefore, this study adopted bibliometrics and scientometrics, specifically document co-citation analysis (DCA), to review the literature on miRNAs in the context of schizophrenia over the course of history. From a literature search on Scopus, 992 papers were found and analysed with CiteSpace. DCA analysis generated a network of 13 major clusters with different thematic focuses within the subject area. Finally, these clusters are qualitatively discussed. miRNA research has branched into schizophrenia, among other medical and psychiatric conditions, due to previous findings in other forms of non-coding RNA. With the rise of big data, bioinformatics analyses are increasingly common in this field of research. The future of research is projected to rely more heavily on interdisciplinary collaboration. Additionally, it can be expected that there will be more translational studies focusing on the application of these findings to the development of effective treatments.

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Section: Cluster #5: Circular Rnamentioning

confidence: 99%

Section: Cluster #2: Bioinformatics Analysismentioning

confidence: 99%

Mapping miRNA Research in Schizophrenia: A Scientometric Review

Lim

Carollo

Neoh

et al. 2022

IJMS

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“…Overall, 20.8% of the total variation in response to antipsychotics was attributed to common SNPs across the genome [10]. However, almost without exception, even this well-powered GWAS identified loci that could explain only a small proportion of the genetic variance for antipsychotic treatment response, revealing the so-called missing heritability problem [11,12]. Incomplete linkage disequilibrium between the causal variants and common SNP markers may explain a small part of the heritability underestimation.…”

Section: Introductionmentioning

confidence: 94%

Different responses to risperidone treatment in Schizophrenia: a multicenter genome-wide association and whole exome sequencing joint study

Zhao

et al. 2022

Transl Psychiatry

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Risperidone is routinely used in the clinical management of schizophrenia, but the treatment response is highly variable among different patients. The genetic underpinnings of the treatment response are not well understood. We performed a pharmacogenomic study of the treatment response to risperidone in patients with schizophrenia by using a SNP microarray -based genome-wide association study (GWAS) and whole exome sequencing (WES)-based GWAS. DNA samples were collected from 189 patients for the GWAS and from 222 patients for the WES after quality control in multiple centers of China. Antipsychotic response phenotypes of patients who received eight weeks of risperidone treatment were quantified with percentage change on the Positive and Negative Syndrome Scale (PANSS). The GWAS revealed a significant association between several SNPs and treatment response, such as three GRM7 SNPs (rs141134664, rs57521140, and rs73809055). Gene-based analysis in WES revealed 13 genes that were associated with antipsychotic response, such as GPR12 and MAP2K3. We did not identify shared loci or genes between GWAS and WES, but association signals tended to cluster into the GPCR gene family and GPCR signaling pathway, which may play an important role in the treatment response etiology. This study may provide a research paradigm for pharmacogenomic research, and these data provide a promising illustration of our potential to identify genetic variants underlying antipsychotic responses and may ultimately facilitate precision medicine in schizophrenia.

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“…This is in marked difference to results from family studies, which show that heritability for schizophrenia accounts for 60–80% of disease risk, and even beyond 80% in twin studies ( Sullivan et al, 2003 ; Avramopoulos, 2018 ). However, the current data from genetic analysis does not directly corroborate the heritability estimates, resulting in the so-called “heritability gap” in psychiatry ( van Calker and Serchov, 2021 ). Furthermore, the majority of genetic alterations identified by GWAS studies falls into non-coding regions of DNA (intergenic regions and introns) ( Welter et al, 2014 ), which makes it difficult to validate their potential pathogenic roles in psychiatric illnesses.…”

Section: Introductionmentioning

confidence: 99%

L1 Retrotransposons: A Potential Endogenous Regulator for Schizophrenia

Jahangir

Zhou

et al. 2022

Front. Genet.

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The long interspersed nuclear elements 1 (LINE-1/L1s) are the only active autonomous retrotransposons found in humans which can integrate anywhere in the human genome. They can expand the genome and thus bring good or bad effects to the host cells which really depends on their integration site and associated polymorphism. LINE-1 retrotransposition has been found participating in various neurological disorders such as autism spectrum disorder, Alzheimer’s disease, major depression disorder, post-traumatic stress disorder and schizophrenia. Despite the recent progress, the roles and pathological mechanism of LINE-1 retrotransposition in schizophrenia and its heritable risks, particularly, contribution to “missing heritability” are yet to be determined. Therefore, this review focuses on the potentially etiological roles of L1s in the development of schizophrenia, possible therapeutic choices and unaddressed questions in order to shed lights on the future research.

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The “missing heritability”—Problem in psychiatry: Is the interaction of genetics, epigenetics and transposable elements a potential solution?

Cited by 14 publications

References 297 publications

Mapping miRNA Research in Schizophrenia: A Scientometric Review

Mapping miRNA Research in Schizophrenia: A Scientometric Review

Different responses to risperidone treatment in Schizophrenia: a multicenter genome-wide association and whole exome sequencing joint study

L1 Retrotransposons: A Potential Endogenous Regulator for Schizophrenia

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