Association of <i>RANBP1</i> haplotype with smooth pursuit eye movement abnormality

Cheong, Hyun Sub; Park, Byung Lae; Kim, Eun Mi; Park, Chul Soo; Sohn, Jin-Wook; Kim, Bong-Jo; Kim, Jae Won; Kim, Ki-Hoon; Shin, Tai Sun; Choi, Ihn-Geun; Han, Sejin; Hwang, Jaeuk; Koh, Insong; Shin, Hyoung Doo; Woo, Sung‐Il

doi:10.1002/ajmg.b.31139

Cited by 14 publications

(7 citation statements)

References 23 publications

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“…However, endophenotypes such as SPEM might be under more direct genetic control and might shorten the pathway to the identification of causative genes. In our previous reports about the association of SPEM disturbance with genes in the 22q11 microdeletion locus, strong associations of ZDHHC8 genetic polymorphisms and RanBP1 haplotypes with SPEM abnormality in schizophrenia patients has been found (Cheong et al 2011;Shin et al 2010).…”

Section: Discussionmentioning

confidence: 90%

Lack of Associations of Neuregulin 1 Variations with Schizophrenia and Smooth Pursuit Eye Movement Abnormality in a Korean Population

et al. 2011

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Schizophrenia is a serious and disabling mental disorder with a high heritability rate. The human neuregulin 1 (NRG1) on 8p12 has been implicated as a candidate gene for schizophrenia. However, controversial results of the associations of NRG1 polymorphisms with schizophrenia and related phenotypes have been reported. In this study, four NRG1 single nucleotide polymorphisms, three in the promoter region, and one nonsynonymous in coding region, were genotyped in a total of 825 subject including 435 schizophrenia cases and 390 normal controls of Korean ethnicity. Although logistic association analysis of NRG1 polymorphisms and haplotypes with schizophrenia showed a nominal association in rs4623364G > C (P = 0.04), the significance disappeared after corrections for multiple testing (corrected P > 0.05). Additional case/control and multiple regression analyses in schizophrenia patients using a method that measures the smooth pursuit eye movement (SPEM) function globally based on natural logarithmic values of the signal/noise ratio also showed no association between NRG1 variants and SPEM abnormality among patients with schizophrenia (P > 0.05). Despite the need for further replications in other cohorts, our findings provide additional supporting information that four variants in NRG1 investigated in this study may not be associated with schizophrenia and its related SPEM function in a Korean population.

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Section: Discussionmentioning

confidence: 90%

Lack of Associations of Neuregulin 1 Variations with Schizophrenia and Smooth Pursuit Eye Movement Abnormality in a Korean Population

et al. 2011

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“…The antisaccade latency may be influenced by the COMT gene (Haraldsson et al 2010b), but in men with schizotypal disorder no association is evident between the antisaccade paradigm measures and the COMT polymorphism (Stefanis et al 2004). In contrast, other genes located in the 22q11 region, such as the zinc finger DHHC domain-containing protein 8 (ZDHHC8) or the Ran-binding protein (RANBP) RANBP1-ht2, might have some influence on SPEM function in schizophrenia patients, as was shown in a Korean population (Shin et al 2010;Cheong et al 2011).…”

Section: Associations Between Endophenotypes and Susceptibility Genesmentioning

confidence: 97%

Consensus paper of the WFSBP Task Force on Biological Markers: Criteria for biomarkers and endophenotypes of schizophrenia part II: Cognition, neuroimaging and genetics

Schmitt

Rujescu²,

Gawlik

et al. 2016

The World Journal of Biological Psychiatry

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Future studies should address the effects of treatment and stage of the disease more precisely and apply combinations of biomarker candidates. Although biomarkers for schizophrenia await validation, knowledge on candidate genomic and neuroimaging biomarkers is growing rapidly and research on this topic has the potential to identify psychiatric endophenotypes and in the future increase insight on individual treatment response in schizophrenia.

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“…However, the present study is the first to conduct association analyses between RANBP9 polymorphisms and schizophrenia. To the best of our knowledge, although, an association study of RANBP9 variants with cognitive disorders such as schizophrenia has not been previously conducted, genetic variants of RANBP1 were recently investigated by our group for possible associations with schizophrenia and SPEM abnormality in a Korean population (27). In the study, two polymorphisms of RANBP1, rs2238798 and rs175162, were genotyped for association analysis.…”

Section: A B Cmentioning

confidence: 99%

Investigating the potential genetic association between RANBP9 polymorphisms and the risk of schizophrenia

Bae

Kim

Park

et al. 2014

Molecular Medicine Reports

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Schizophrenia is a serious mental disorder that is affected by genetic and environmental factors. As the disease has a high heritability rate, genetic studies identifying candidate genes for schizophrenia have been conducted in various populations. The gene for human Ran‑binding protein 9 (RANBP9) is a newly discovered candidate gene for schizophrenia. As RANBP9 is a small guanosine‑5'‑triphosphate‑binding protein that interacts with the disrupted in schizophrenia 1 protein, it is considered to be an important molecule in the pathogenesis of schizophrenia. However, to date, no study has examined the possible association between the genetic variations of RANBP9 and the risk of schizophrenia. In the present study, it was hypothesized that RANBP9 variations may influence the risk of schizophrenia. In order to investigate the association between RANBP9 polymorphisms and the risk of schizophrenia and smooth pursuit eye movement (SPEM) abnormalities, a case‑control association analysis was performed. Using a TaqMan assay, five single‑nucleotide polymorphisms and an insertion/deletion variation within the start codon region of RANBP9 were genotyped. Five major haplotypes were identified in 449 patients with schizophrenia and 393 unrelated healthy individuals as controls (total, n=842). However, the association analyses revealed no associations between all genetic variants and schizophrenia and SPEM abnormality. To the best of our knowledge, this is the first study to investigate an association between RANBP9 polymorphisms and schizophrenia and SPEM abnormality. The findings of allele frequencies and association results in this study may aid in further genetic etiological studies in schizophrenia in various populations.

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Association of RANBP1 haplotype with smooth pursuit eye movement abnormality

Cited by 14 publications

References 23 publications

Lack of Associations of Neuregulin 1 Variations with Schizophrenia and Smooth Pursuit Eye Movement Abnormality in a Korean Population

Lack of Associations of Neuregulin 1 Variations with Schizophrenia and Smooth Pursuit Eye Movement Abnormality in a Korean Population

Consensus paper of the WFSBP Task Force on Biological Markers: Criteria for biomarkers and endophenotypes of schizophrenia part II: Cognition, neuroimaging and genetics

Investigating the potential genetic association between RANBP9 polymorphisms and the risk of schizophrenia

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