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Genome-Wide Association Study of Stature Loss

Ahmad, Nauman Z. (2023) Genome-Wide Association Study of Stature Loss. Master's Thesis, University of Pittsburgh. (Unpublished)

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The elderly face increased risk of mortality and a decrease in mobility as bone fracture risk increas-es. Osteoporosis and loss of bone mineral density (BMD) is directly related to fracture risk. Meas-urement of BMD can be difficult. In this study, I use height loss as a proxy for loss of BMD and explore its genetic determinants.
The Long Life Family Study is a family-based cohort study recruited for their exceptional longevity. Participants were recruited in two generations: sibships of healthy long-lived individuals and their offspring and their offspring’s spouses. Using standing height measurement obtained ap-proximately 7.5 y apart, I calculated change in height per year. Using this phenotype, I conducted a genome-wide association study of change in height and examined the associated variants.
The mean change in height per year in the older generation was −0.15 cm/y, and the mean change in height per year in the younger generation was −0.33 cm/y. In the GWAS, there was one locus that was genome-wide significant (p < 5 × 10−8), and ten additional loci that were suggestive of significance (p < 1 × 10−6). The loci centered around SMURF1, FER, and R3HCC1L were the most statistically significant, had the most associations in the literature, and the highest minor allele frequency, respectively.
These findings indicate that height loss (change in height in elderly individuals) could be a useful surrogate in genetic studies of osteoporosis. Additional studies are necessary to validate the findings of this study. This work has public health significance in its potential to increase knowledge of the etiology and variation in bone loss, thereby improving the potential for improved interventions, decreasing costs and burden on the healthcare system and improving quality of life and care for the elderly.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Ahmad, Nauman
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Thesis AdvisorMinster, Ryan L.rminster@pitt.edurminster
Committee MemberSchaffer, John R.john.r.shaffer@pitt.edujohn.r.shaffer
Committee MemberZmuda, Joseph M.ZmudaJ@edc.pitt.eduZmudaJ
Date: 24 August 2023
Date Type: Publication
Defense Date: 2 August 2023
Approval Date: 24 August 2023
Submission Date: 15 August 2023
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 71
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: GWAS Genome-Wide Association Study Stature Loss Height Loss Bone Morsphology Osteoporosis Fracture Osteoporotic Fracture
Date Deposited: 24 Aug 2023 14:01
Last Modified: 24 Aug 2023 14:01


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