Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/40505
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.date.accessioned | 2019-02-27T13:46:38Z | - |
dc.date.available | 2019-02-27T13:46:38Z | - |
dc.date.issued | 2018 | - |
dc.identifier.citation | Buttigieg, J. (2018). Association of the RS9883204 polymorphism in ADCY5 with birth weight and risk of gestational diabetes mellitus in the Maltese population (Bachelor's dissertation). | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/40505 | - |
dc.description | B.SC.(HONS)APPLIED BIOMED.SCI. | en_GB |
dc.description.abstract | Birth weight is a complex multifactorial trait and an important indicator of an infant`s future health. Birth weight is influenced by various placental, environmental, maternal as well as genetic factors. Low birth weight due to restricted foetal growth is associated with high rates of perinatal morbidity and mortality, neonatal complications and a higher incidence of later-life chronic diseases such as type 2 diabetes, hypertension, and cardiovascular disease. A meta-analysis of genome-wide association studies (GWAS) has identified an association between low birth weight and a single nucleotide polymorphism (SNP), rs9883204, located at 3q21 within the adenylate cyclase 5 (ADCY5) gene. No previous studies have investigated the genetic determinants of birth weight in the Maltese population. Using polymerase chain reaction (PCR) and Sanger sequencing, the association of rs9883204 in ADCY5 with birth weight and gestational diabetes mellitus (GDM) risk was investigated, in paired maternal and neonatal cohorts. The major allele frequency (C) in the maternal cohort was 80% and the minor allele frequency (T) was 20%. The major allele frequency (C) in the neonatal cohort was 77% and the minor allele frequency (T) was 23%. The polymorphism at rs9883204 (ADCY5) showed no correlation with birth weight or GDM risk in the Maltese population. Both birth weight and GDM have a heterogeneous nature and this is a possible explanation for the observed lack of association, as a single polymorphism is unlikely to explain these complex outcomes in a small sample of the Maltese population. | en_GB |
dc.language.iso | en | en_GB |
dc.rights | info:eu-repo/semantics/restrictedAccess | en_GB |
dc.subject | Birth weight -- Malta | en_GB |
dc.subject | Diabetes in pregnancy -- Malta | en_GB |
dc.subject | Single nucleotide polymorphisms -- Malta | en_GB |
dc.subject | Human genetics -- Variation -- Malta | en_GB |
dc.title | Association of the RS9883204 polymorphism in ADCY5 with birth weight and risk of gestational diabetes mellitus in the Maltese population | en_GB |
dc.type | bachelorThesis | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.publisher.institution | University of Malta | en_GB |
dc.publisher.department | Faculty of Health Sciences. Department of Applied Biomedical Science | en_GB |
dc.description.reviewed | N/A | en_GB |
dc.contributor.creator | Buttigieg, Janice | - |
Appears in Collections: | Dissertations - FacHSc - 2018 Dissertations - FacHScABS - 2018 |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
18BSABS02.pdf Restricted Access | 1.71 MB | Adobe PDF | View/Open Request a copy |
Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.