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Evaluation of two NOS1AP regulatory variants and NOS1 as a candidate gene contributing to schizophrenia risk
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Ramirez, Carmen. Evaluation of two NOS1AP regulatory variants and NOS1 as a candidate gene contributing to schizophrenia risk. Retrieved from https://doi.org/doi:10.7282/T39Z92ZB

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TitleEvaluation of two NOS1AP regulatory variants and NOS1 as a candidate gene contributing to schizophrenia risk
NameRamirez, Carmen (author); Brzustowicz, Linda M (chair); Firestein, Bonnie L (internal member); Millonig, James H (internal member); Buyske, Steve (internal member); Rutgers University; Graduate School - New Brunswick
Date Created2013
Other Date2013-10 (degree)
SubjectMicrobiology and Molecular Genetics, Schizophrenia--Genetic aspects, Schizophrenia--Etiology
Extentx, 63 p. : ill.
DescriptionSchizophrenia is a major neuropsychiatric disorder that affects approximately one percent of the general population. Although the etiology of schizophrenia is unknown, family, twin and adoption studies have demonstrated that schizophrenia is a predominantly genetic disorder with a very high heritability. We previously reported highly significant evidence of linkage to chromosome 1q21-23, identified NOS1AP as the candidate gene from this region contributing to risk for schizophrenia in our sample, and identified three SNPs with strong evidence of association to schizophrenia. These SNPs were tested for regulatory functions using a Dual Luciferase Reporter Assay. rs12742393 demonstrated regulatory activity and produced significant allelic expression differences in two different human neural cell lines. Further statistical analysis of eight SNPs in strong LD with rs12742393 identified a haplotype block of four SNPs in complete LD with each other (rs4557949-rs11584803-rs4145621-rs12084492) with strong evidence of association to schizophrenia. Additional statistical analysis revealed that a haplotype of rs12742393 and this block produced stronger evidence for association than rs12742393 alone. rs4145621 already has been tested for regulatory activity and produced no evidence of being a functional variant. The focus of this thesis was to evaluate the regulatory activity of two of these SNPs within this haplotype, rs12084492 and rs4557949. We performed Dual-Luciferase Reporter Assays to test for regulatory function of each SNP individually and in combination with rs12742393 using two different cell lines, PFSK-1 and SK-N-MC, and using different cell confluence levels. Our results suggest that both SNPs are not functional variants. Evaluation of rs11584803 is necessary to completely test our initial hypothesis.
NoteM.S.
NoteIncludes bibliographical references
Noteby Carmen Ramirez
Genretheses, ETD graduate
Persistent URLhttps://doi.org/doi:10.7282/T39Z92ZB
Languageeng
CollectionGraduate School - New Brunswick Electronic Theses and Dissertations
Organization NameRutgers, The State University of New Jersey
RightsThe author owns the copyright to this work.
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