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The Association of VMAT2 Gene Polymorphisms With the Development of Schizophrenia

Cenname, Alexis (2023) The Association of VMAT2 Gene Polymorphisms With the Development of Schizophrenia. Master's Thesis, University of Pittsburgh. (Unpublished)

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Objective: To investigate the association between common single nucleotide polymorphisms (SNPs) in the vesicular monoamine transporter type 2 (VMAT2 ) gene and a diagnosis
of schizophrenia in the US population.

Methods: 968 individuals with a diagnosis of schizophrenia were ancestry-matched to healthy controls to create a final cohort of 1,936 individuals. Diagnosis criteria was determined from Electronic Health Records provided by the AllofUs Research Program. Additive and dominant logistic regression analyses were done for the promoter SNPs rs363324
and rs363371. Additional stratified analyses were performed using sex and ancestry variables.

Results: No significant results were observed for rs363324 and rs363371 using the additive model. The dominant model suggested a protective effect for rs363324 for the entire
cohort (p = 0.007; OR = 0.75[0.61, 0.92]) and within the African ancestral group (p = 0.028; OR = 0.76[0.56, 0.97]). Stratification by sex did not give significant results for either genotype model, nor did stratification by ancestry+sex.

Conclusion: Premature mortality rates and the need for targeted treatments in schizophrenia make it an important disease to study for public health. This study found that ’GA’ and ’AA’ genotypes have an equal protective effect from the development of schizophrenia for rs363324. Unlike previous studies, the results for rs363371 were not significant. Future studies should use a larger sample size and include variables concerning environmental factors.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Cenname, Alexisalexiscennam@gmail.comalc2440009-0007-9237-8965
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorCarlson, Jennajnc35@pitt.edujnc35
Committee MemberCarlson, Jennajnc35@pitt.edujnc35
Committee MemberBuchanich, Jeaninejeanine@pitt.edujeanine
Committee MemberShaffer, Johnjohn.r.shaffer@pitt.edujohn.r.shaffer
Date: 19 May 2023
Date Type: Publication
Defense Date: 24 April 2023
Approval Date: 19 May 2023
Submission Date: 28 April 2023
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 29
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Biostatistics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: single nucleotide polymorphism (SNP) vesicular monoamine transporter type 2 (VMAT2)
Date Deposited: 19 May 2023 14:03
Last Modified: 19 May 2023 14:03


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