Literature DB >> 30779116

Analysis of 15q11.2 CNVs in an Indian population with schizophrenia.

Sonal Saxena1, Poornima Kkani2, Chellamuthu Ramasubramanian3, Srinivasan Ganesh Kumar3, Raghav Monisha4, Gundugurti Prasad Rao4, Kommu Naga Mohan1.   

Abstract

Copy number variants (CNVs) of 15q11.2 yielded conflicting reports on their association with schizophrenia (SZ), indicating the need for replication studies. Because there are no 15q11.2 CNV studies on Indian patients, we began by testing 307 SZ patients and 359 age- and sex-matched controls from South India. Using an improved multiplex ligation probe amplification, six deletions were found in patients and three in controls (p = 0.31), whereas one duplication was found in patients and three in controls (p = 0.63). Analysis of families of two patients and two controls with deletions indicated that the mutations were de novo. In conclusion, there seems to be no significant difference in the frequencies of 15q11.2 CNVs among the controls and patients studied here. Future studies involving a larger number of controls and patients are expected to provide better clarity on the relationship between 15q11.2 CNVs and SZ patients from India.
© 2019 John Wiley & Sons Ltd/University College London.

Entities:  

Keywords:  15q11.2; BP1-BP2; CNVs; penetrance; schizophrenia

Mesh:

Year:  2019        PMID: 30779116     DOI: 10.1111/ahg.12300

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN: 0003-4800            Impact factor:   1.670


  2 in total

1.  Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review.

Authors:  Ji Yoon Han; Joonhong Park
Journal:  Diagnostics (Basel)       Date:  2021-04-19

2.  Functional Analysis of DNMT1 SNPs (rs2228611 and rs2114724) Associated with Schizophrenia.

Authors:  Sonal Saxena; Pranay Amruth Maroju; Sumana Choudhury; Vidhya Chitta Voina; Poonam Naik; Kavitha Gowdhaman; Poornima Kkani; Kiranmai Chennoju; S Ganesh Kumar; C Ramasubramanian; G Prasad Rao; Trinath Jamma; Kumar Pranav Narayan; K Naga Mohan
Journal:  Genet Res (Camb)       Date:  2021-03-31       Impact factor: 1.588

  2 in total

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