Investigating olfactory gene variation and odour identification in older adults
Ageing is associated with a decrease in odour identification. Additionally, deficits in olfaction have been linked to age-related disease and mortality. Heritability studies suggest genetic variation contributes to olfactory identification. The olfactory receptor (OR) gene family is the largest in t...
| Main Authors: | , , , , , , , , , , |
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| Format: | Journal Article |
| Language: | English |
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MDPI
2021
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| Online Access: | http://hdl.handle.net/20.500.11937/86406 |
| _version_ | 1848764821375287296 |
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| author | Raj, S. Thalamuthu, A. Armstrong, Nicola Wright, M.J. Kwok, J.B. Trollor, J.N. Ames, D. Schofield, P.R. Brodaty, H. Sachdev, P.S. Mather, K.A. |
| author_facet | Raj, S. Thalamuthu, A. Armstrong, Nicola Wright, M.J. Kwok, J.B. Trollor, J.N. Ames, D. Schofield, P.R. Brodaty, H. Sachdev, P.S. Mather, K.A. |
| author_sort | Raj, S. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Ageing is associated with a decrease in odour identification. Additionally, deficits in olfaction have been linked to age-related disease and mortality. Heritability studies suggest genetic variation contributes to olfactory identification. The olfactory receptor (OR) gene family is the largest in the human genome and responsible for overall odour identification. In this study, we sought to find olfactory gene family variants associated with individual and overall odour identification and to examine the relationships between polygenic risk scores (PRS) for olfactory-related phenotypes and olfaction. Participants were Caucasian older adults from the Sydney Memory and Ageing Study and the Older Australian Twins Study with genome-wide genotyping data (n = 1395, mean age = 75.52 ± 6.45). The Brief-Smell Identification Test (BSIT) was administered in both cohorts. PRS were calculated from independent GWAS summary statistics for Alzheimer’s disease (AD), white matter hyperintensities (WMH), Parkinson’s disease (PD), hippocampal volume and smoking. Associations with olfactory receptor genes (n = 967), previously identified candidate olfaction-related SNPs (n = 36) and different PRS with BSIT scores (total and individual smells) were examined. All of the relationships were analysed using generalised linear mixed models (GLMM), adjusted for age and sex. Genes with suggestive evidence for odour identification were found for 8 of the 12 BSIT items. Thirteen out of 36 candidate SNPs previously identified from the literature were suggestively associated with several individual BSIT items but not total score. PRS for smoking, WMH and PD were negatively associated with chocolate identification. This is the first study to conduct genetic analyses with individual odorant identification, which found suggestive olfactory-related genes and genetic variants for multiple individual BSIT odours. Replication in independent and larger cohorts is needed. |
| first_indexed | 2025-11-14T11:25:27Z |
| format | Journal Article |
| id | curtin-20.500.11937-86406 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-14T11:25:27Z |
| publishDate | 2021 |
| publisher | MDPI |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-864062021-11-29T08:13:44Z Investigating olfactory gene variation and odour identification in older adults Raj, S. Thalamuthu, A. Armstrong, Nicola Wright, M.J. Kwok, J.B. Trollor, J.N. Ames, D. Schofield, P.R. Brodaty, H. Sachdev, P.S. Mather, K.A. Science & Technology Life Sciences & Biomedicine Genetics & Heredity olfaction odour identification genetics ageing SYDNEY MEMORY ASSOCIATION POPULATION IMPAIRMENT COHORT SMELL Ageing is associated with a decrease in odour identification. Additionally, deficits in olfaction have been linked to age-related disease and mortality. Heritability studies suggest genetic variation contributes to olfactory identification. The olfactory receptor (OR) gene family is the largest in the human genome and responsible for overall odour identification. In this study, we sought to find olfactory gene family variants associated with individual and overall odour identification and to examine the relationships between polygenic risk scores (PRS) for olfactory-related phenotypes and olfaction. Participants were Caucasian older adults from the Sydney Memory and Ageing Study and the Older Australian Twins Study with genome-wide genotyping data (n = 1395, mean age = 75.52 ± 6.45). The Brief-Smell Identification Test (BSIT) was administered in both cohorts. PRS were calculated from independent GWAS summary statistics for Alzheimer’s disease (AD), white matter hyperintensities (WMH), Parkinson’s disease (PD), hippocampal volume and smoking. Associations with olfactory receptor genes (n = 967), previously identified candidate olfaction-related SNPs (n = 36) and different PRS with BSIT scores (total and individual smells) were examined. All of the relationships were analysed using generalised linear mixed models (GLMM), adjusted for age and sex. Genes with suggestive evidence for odour identification were found for 8 of the 12 BSIT items. Thirteen out of 36 candidate SNPs previously identified from the literature were suggestively associated with several individual BSIT items but not total score. PRS for smoking, WMH and PD were negatively associated with chocolate identification. This is the first study to conduct genetic analyses with individual odorant identification, which found suggestive olfactory-related genes and genetic variants for multiple individual BSIT odours. Replication in independent and larger cohorts is needed. 2021 Journal Article http://hdl.handle.net/20.500.11937/86406 10.3390/genes12050669 English http://creativecommons.org/licenses/by/4.0/ MDPI fulltext |
| spellingShingle | Science & Technology Life Sciences & Biomedicine Genetics & Heredity olfaction odour identification genetics ageing SYDNEY MEMORY ASSOCIATION POPULATION IMPAIRMENT COHORT SMELL Raj, S. Thalamuthu, A. Armstrong, Nicola Wright, M.J. Kwok, J.B. Trollor, J.N. Ames, D. Schofield, P.R. Brodaty, H. Sachdev, P.S. Mather, K.A. Investigating olfactory gene variation and odour identification in older adults |
| title | Investigating olfactory gene variation and odour identification in older adults |
| title_full | Investigating olfactory gene variation and odour identification in older adults |
| title_fullStr | Investigating olfactory gene variation and odour identification in older adults |
| title_full_unstemmed | Investigating olfactory gene variation and odour identification in older adults |
| title_short | Investigating olfactory gene variation and odour identification in older adults |
| title_sort | investigating olfactory gene variation and odour identification in older adults |
| topic | Science & Technology Life Sciences & Biomedicine Genetics & Heredity olfaction odour identification genetics ageing SYDNEY MEMORY ASSOCIATION POPULATION IMPAIRMENT COHORT SMELL |
| url | http://hdl.handle.net/20.500.11937/86406 |