Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer’s disease patients
Contemporary genetic methods have not yet solved the ‘missing heritability’ problem of complex diseases such as Alzheimer’s disease (AD). The impact of rare or less common variation on human complex diseases and traits remains to date barely investigated. In this study rare population variants detec...
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Taylor & Francis Group
2021-01-01
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| Series: | Biotechnology & Biotechnological Equipment |
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| Online Access: | http://dx.doi.org/10.1080/13102818.2021.1964382 |
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doaj-69eab2e91aa343ae9dd277605a11f6522021-09-06T14:06:25ZengTaylor & Francis GroupBiotechnology & Biotechnological Equipment1310-28181314-35302021-01-013511256126210.1080/13102818.2021.19643821964382Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer’s disease patientsLubomir Balabanski0Dimitar Serbezov1Maya Atanasoska2Sena Karachanak-Yankova3Savina Hadjidekova4Dragomira Nikolova5Olga Boyanova6Rada Staneva7Radoslava Vazharova8Marta Mihailova9Vera Damyanova10Desislava Nesheva11Diana Belejanska12Shima Mehrabian13Lachezar Traykov14Draga Toncheva15Department of Medical Genetics, Medical Faculty, Medical University of SofiaDepartment of Medical Genetics, Medical Faculty, Medical University of SofiaGenetic Laboratory, Gynecology and Assisted Reproduction Hospital “Malinov MD”Department of Medical Genetics, Medical Faculty, Medical University of SofiaDepartment of Medical Genetics, Medical Faculty, Medical University of SofiaDepartment of Medical Genetics, Medical Faculty, Medical University of SofiaDepartment of Medical Genetics, Medical Faculty, Medical University of SofiaDepartment of Medical Genetics, Medical Faculty, Medical University of SofiaDepartment of Biology, Medical Genetics and Microbiology, Faculty of Medicine, Sofia University “St. Kliment Ohridski”Department of Medical Genetics, Medical Faculty, Medical University of SofiaDepartment of Medical Genetics, Medical Faculty, Medical University of SofiaDepartment of Medical Genetics, Medical Faculty, Medical University of SofiaDepatment of Neurology, University Hospital “Alexandrovska”, Medical University of SofiaDepatment of Neurology, University Hospital “Alexandrovska”, Medical University of SofiaDepatment of Neurology, University Hospital “Alexandrovska”, Medical University of SofiaDepartment of Medical Genetics, Medical Faculty, Medical University of SofiaContemporary genetic methods have not yet solved the ‘missing heritability’ problem of complex diseases such as Alzheimer’s disease (AD). The impact of rare or less common variation on human complex diseases and traits remains to date barely investigated. In this study rare population variants detected using whole-exome sequencing were employed to examine how molecular pathways are prioritized in four groups: Alzheimer’s disease (AD) patients, Frontotemporal dementia (FTD) patients, young and healthy individuals and centenarians. The set of prioritized genes in AD patients associated with Semaphorin interactions pathways, contrasting with the results of the other groups. We identified rare pathogenic, likely pathogenic and variants of unknown significance in these prioritized genes in AD patients. The results of this study offer evidence that semaphorin pathways play a role in AD genetic etiology.http://dx.doi.org/10.1080/13102818.2021.1964382alzheimer’s diseasemolecular pathwayswhole-exome sequencing |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Lubomir Balabanski Dimitar Serbezov Maya Atanasoska Sena Karachanak-Yankova Savina Hadjidekova Dragomira Nikolova Olga Boyanova Rada Staneva Radoslava Vazharova Marta Mihailova Vera Damyanova Desislava Nesheva Diana Belejanska Shima Mehrabian Lachezar Traykov Draga Toncheva |
| spellingShingle |
Lubomir Balabanski Dimitar Serbezov Maya Atanasoska Sena Karachanak-Yankova Savina Hadjidekova Dragomira Nikolova Olga Boyanova Rada Staneva Radoslava Vazharova Marta Mihailova Vera Damyanova Desislava Nesheva Diana Belejanska Shima Mehrabian Lachezar Traykov Draga Toncheva Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer’s disease patients Biotechnology & Biotechnological Equipment alzheimer’s disease molecular pathways whole-exome sequencing |
| author_facet |
Lubomir Balabanski Dimitar Serbezov Maya Atanasoska Sena Karachanak-Yankova Savina Hadjidekova Dragomira Nikolova Olga Boyanova Rada Staneva Radoslava Vazharova Marta Mihailova Vera Damyanova Desislava Nesheva Diana Belejanska Shima Mehrabian Lachezar Traykov Draga Toncheva |
| author_sort |
Lubomir Balabanski |
| title |
Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer’s disease patients |
| title_short |
Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer’s disease patients |
| title_full |
Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer’s disease patients |
| title_fullStr |
Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer’s disease patients |
| title_full_unstemmed |
Rare genetic variants prioritize molecular pathways for semaphorin interactions in Alzheimer’s disease patients |
| title_sort |
rare genetic variants prioritize molecular pathways for semaphorin interactions in alzheimer’s disease patients |
| publisher |
Taylor & Francis Group |
| series |
Biotechnology & Biotechnological Equipment |
| issn |
1310-2818 1314-3530 |
| publishDate |
2021-01-01 |
| description |
Contemporary genetic methods have not yet solved the ‘missing heritability’ problem of complex diseases such as Alzheimer’s disease (AD). The impact of rare or less common variation on human complex diseases and traits remains to date barely investigated. In this study rare population variants detected using whole-exome sequencing were employed to examine how molecular pathways are prioritized in four groups: Alzheimer’s disease (AD) patients, Frontotemporal dementia (FTD) patients, young and healthy individuals and centenarians. The set of prioritized genes in AD patients associated with Semaphorin interactions pathways, contrasting with the results of the other groups. We identified rare pathogenic, likely pathogenic and variants of unknown significance in these prioritized genes in AD patients. The results of this study offer evidence that semaphorin pathways play a role in AD genetic etiology. |
| topic |
alzheimer’s disease molecular pathways whole-exome sequencing |
| url |
http://dx.doi.org/10.1080/13102818.2021.1964382 |
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