Identifying novel genetic variants for brain amyloid deposition: a genome-wide association study in the Korean population
DC Field | Value | Language |
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dc.contributor.author | Kim, Hang-Rai | - |
dc.contributor.author | Jung, Sang-Hyuk | - |
dc.contributor.author | Kim, Jaeho | - |
dc.contributor.author | Jang, Hyemin | - |
dc.contributor.author | Kang, Sung Hoon | - |
dc.contributor.author | Hwangbo, Song | - |
dc.contributor.author | Kim, Jun Pyo | - |
dc.contributor.author | Kim, So Yeon | - |
dc.contributor.author | Kim, Beomsu | - |
dc.contributor.author | Kim, Soyeon | - |
dc.contributor.author | Jeong, Jee Hyang | - |
dc.contributor.author | Yoon, Soo Jin | - |
dc.contributor.author | Park, Kyung Won | - |
dc.contributor.author | Kim, Eun-Joo | - |
dc.contributor.author | Yoon, Bora | - |
dc.contributor.author | Jang, Jae-Won | - |
dc.contributor.author | Hong, Jin Yong | - |
dc.contributor.author | Choi, Seong Hye | - |
dc.contributor.author | Noh, Young | - |
dc.contributor.author | Kim, Ko Woon | - |
dc.contributor.author | Kim, Si Eun | - |
dc.contributor.author | Lee, Jin San | - |
dc.contributor.author | Jung, Na-Yeon | - |
dc.contributor.author | Lee, Juyoun | - |
dc.contributor.author | Kim, Byeong C. | - |
dc.contributor.author | Son, Sang Joon | - |
dc.contributor.author | Hong, Chang Hyung | - |
dc.contributor.author | Na, Duk L. | - |
dc.contributor.author | Seo, Sang Won | - |
dc.contributor.author | Won, Hong-Hee | - |
dc.contributor.author | Kim, Hee Jin | - |
dc.date.accessioned | 2022-03-15T04:41:42Z | - |
dc.date.available | 2022-03-15T04:41:42Z | - |
dc.date.created | 2022-03-14 | - |
dc.date.issued | 2021-06-21 | - |
dc.identifier.issn | 1758-9193 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/139026 | - |
dc.description.abstract | Background: Genome-wide association studies (GWAS) have identified a number of genetic variants for Alzheimer's disease (AD). However, most GWAS were conducted in individuals of European ancestry, and non-European populations are still underrepresented in genetic discovery efforts. Here, we performed GWAS to identify single nucleotide polymorphisms (SNPs) associated with amyloid beta (A beta) positivity using a large sample of Korean population. Methods: One thousand four hundred seventy-four participants of Korean ancestry were recruited from multicenters in South Korea. Discovery dataset consisted of 1190 participants (383 with cognitively unimpaired [CU], 330 with amnestic mild cognitive impairment [aMCI], and 477 with AD dementia [ADD]) and replication dataset consisted of 284 participants (46 with CU, 167 with aMCI, and 71 with ADD). GWAS was conducted to identify SNPs associated with A beta positivity (measured by amyloid positron emission tomography). A beta prediction models were developed using the identified SNPs. Furthermore, bioinformatics analysis was conducted for the identified SNPs. Results: In addition to APOE, we identified nine SNPs on chromosome 7, which were associated with a decreased risk of A beta positivity at a genome-wide suggestive level. Of these nine SNPs, four novel SNPs (rs73375428, rs2903923, rs3828947, and rs11983537) were associated with a decreased risk of A beta positivity (p < 0.05) in the replication dataset. In a meta-analysis, two SNPs (rs7337542 and rs2903923) reached a genome-wide significant level (p < 5.0 x 10(-8)). Prediction performance for A beta positivity increased when rs73375428 were incorporated (area under curve = 0.75; 95% CI = 0.74-0.76) in addition to clinical factors and APOE genotype. Cis-eQTL analysis demonstrated that the rs73375428 was associated with decreased expression levels of FGL2 in the brain. Conclusion: The novel genetic variants associated with FGL2 decreased risk of A beta positivity in the Korean population. This finding may provide a candidate therapeutic target for AD, highlighting the importance of genetic studies in diverse populations. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | BMC | - |
dc.subject | ALZHEIMERS-DISEASE | - |
dc.subject | DIAGNOSTIC GUIDELINES | - |
dc.subject | NATIONAL INSTITUTE | - |
dc.subject | GENOTYPE | - |
dc.subject | RISK | - |
dc.subject | PET | - |
dc.subject | BETA | - |
dc.subject | RECOMMENDATIONS | - |
dc.subject | PROTHROMBINASE | - |
dc.subject | WORKGROUPS | - |
dc.title | Identifying novel genetic variants for brain amyloid deposition: a genome-wide association study in the Korean population | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Kang, Sung Hoon | - |
dc.identifier.doi | 10.1186/s13195-021-00854-z | - |
dc.identifier.scopusid | 2-s2.0-85108265468 | - |
dc.identifier.wosid | 000664111300001 | - |
dc.identifier.bibliographicCitation | ALZHEIMERS RESEARCH & THERAPY, v.13, no.1 | - |
dc.relation.isPartOf | ALZHEIMERS RESEARCH & THERAPY | - |
dc.citation.title | ALZHEIMERS RESEARCH & THERAPY | - |
dc.citation.volume | 13 | - |
dc.citation.number | 1 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.relation.journalWebOfScienceCategory | Neurosciences | - |
dc.subject.keywordPlus | ALZHEIMERS-DISEASE | - |
dc.subject.keywordPlus | BETA | - |
dc.subject.keywordPlus | DIAGNOSTIC GUIDELINES | - |
dc.subject.keywordPlus | GENOTYPE | - |
dc.subject.keywordPlus | NATIONAL INSTITUTE | - |
dc.subject.keywordPlus | PET | - |
dc.subject.keywordPlus | PROTHROMBINASE | - |
dc.subject.keywordPlus | RECOMMENDATIONS | - |
dc.subject.keywordPlus | RISK | - |
dc.subject.keywordPlus | WORKGROUPS | - |
dc.subject.keywordAuthor | Alzheimer&apos | - |
dc.subject.keywordAuthor | s disease | - |
dc.subject.keywordAuthor | Amyloid-beta | - |
dc.subject.keywordAuthor | Genome-wide association studies | - |
dc.subject.keywordAuthor | Positron emission tomography | - |
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