Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia
DC Field | Value | Language |
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dc.contributor.author | Dong, Weila | - |
dc.contributor.author | Wong, Karen H. Y. | - |
dc.contributor.author | Liu, Youbin | - |
dc.contributor.author | Levy-Sakin, Michal | - |
dc.contributor.author | Hung, Wei-Chien | - |
dc.contributor.author | Li, Mo | - |
dc.contributor.author | Li, Boyang | - |
dc.contributor.author | Jin, Sheng Chih | - |
dc.contributor.author | Choi, Jungmin | - |
dc.contributor.author | Lopez-Giraldez, Francesc | - |
dc.contributor.author | Vaka, Dedeepya | - |
dc.contributor.author | Poon, Annie | - |
dc.contributor.author | Chu, Catherine | - |
dc.contributor.author | Lao, Richard | - |
dc.contributor.author | Balamir, Melek | - |
dc.contributor.author | Movsesyan, Irina | - |
dc.contributor.author | Malloy, Mary J. | - |
dc.contributor.author | Zhao, Hongyu | - |
dc.contributor.author | Kwok, Pui-Yan | - |
dc.contributor.author | Kane, John P. | - |
dc.contributor.author | Lifton, Richard P. | - |
dc.contributor.author | Pullinger, Clive R. | - |
dc.date.accessioned | 2022-08-13T06:40:18Z | - |
dc.date.available | 2022-08-13T06:40:18Z | - |
dc.date.created | 2022-08-12 | - |
dc.date.issued | 2022-06 | - |
dc.identifier.issn | 0022-2275 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/142999 | - |
dc.description.abstract | Low levels of high density lipoprotein-cholesterol (HDL-C) are associated with an elevated risk of arteriosclerotic coronary heart disease. Herita-bility of HDL-C levels is high. In this research discovery study, we used whole-exome sequencing to identify damaging gene variants that may play significant roles in determining HDL-C levels. We studied 204 in-dividuals with a mean HDL-C level of 27.8 & PLUSMN; 6.4 mg/dl (range: 4-36 mg/dl). Data were analyzed by statistical gene burden testing and by filtering against candidate gene lists. We found 120 occurrences of probably damaging variants (116 heterozygous; four homozygous) among 45 of 104 recognized HDL candidate genes. Those with the highest prevalence of damaging variants were ABCA1 (n = 20), STAB1 (n = 9), OSBPL1A(n = 8), CPS1 (n = 8), CD36 (n = 7), LRP1 (n = 6), ABCA8 (n = 6), GOT2 (n = 5), AMPD3 (n = 5), WWOX (n = 4), and IRS1 (n = 4). Binomial analysis for damaging missense or loss-of-function variants identified the ABCA1 and LDLR genes at genome-wide significance. In conclusion, whole-exome sequencing of individuals with low HDL-C showed the burden of damaging rare variants in the ABCA1 and LDLR genes is particularly high and revealed numerous occurrences in HDL candidate genes, including many genes identified in genome-wide asso-ciation study reports. Many of these genes are involved in cancer biology, which accords with epidemiologic findings of the association of HDL deficiency with increased risk of cancer, thus presenting a new area of interest in HDL genomics. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | ELSEVIER | - |
dc.subject | HIGH-DENSITY-LIPOPROTEIN | - |
dc.subject | CORONARY-HEART-DISEASE | - |
dc.subject | REVERSE CHOLESTEROL TRANSPORT | - |
dc.subject | HDL CHOLESTEROL | - |
dc.subject | CARDIOVASCULAR-DISEASE | - |
dc.subject | SERUM-LIPOPROTEINS | - |
dc.subject | APOLIPOPROTEIN-B | - |
dc.subject | EFFLUX | - |
dc.subject | PLASMA | - |
dc.subject | METABOLISM | - |
dc.title | Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Choi, Jungmin | - |
dc.identifier.doi | 10.1016/j.jlr.2022.100209 | - |
dc.identifier.scopusid | 2-s2.0-85131955927 | - |
dc.identifier.wosid | 000806753900004 | - |
dc.identifier.bibliographicCitation | JOURNAL OF LIPID RESEARCH, v.63, no.6 | - |
dc.relation.isPartOf | JOURNAL OF LIPID RESEARCH | - |
dc.citation.title | JOURNAL OF LIPID RESEARCH | - |
dc.citation.volume | 63 | - |
dc.citation.number | 6 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Biochemistry & Molecular Biology | - |
dc.relation.journalWebOfScienceCategory | Biochemistry & Molecular Biology | - |
dc.subject.keywordPlus | HIGH-DENSITY-LIPOPROTEIN | - |
dc.subject.keywordPlus | CORONARY-HEART-DISEASE | - |
dc.subject.keywordPlus | REVERSE CHOLESTEROL TRANSPORT | - |
dc.subject.keywordPlus | HDL CHOLESTEROL | - |
dc.subject.keywordPlus | CARDIOVASCULAR-DISEASE | - |
dc.subject.keywordPlus | SERUM-LIPOPROTEINS | - |
dc.subject.keywordPlus | APOLIPOPROTEIN-B | - |
dc.subject.keywordPlus | EFFLUX | - |
dc.subject.keywordPlus | PLASMA | - |
dc.subject.keywordPlus | METABOLISM | - |
dc.subject.keywordAuthor | dyslipidemia | - |
dc.subject.keywordAuthor | genetics | - |
dc.subject.keywordAuthor | HDL | - |
dc.subject.keywordAuthor | LDL | - |
dc.subject.keywordAuthor | lipoproteins | - |
dc.subject.keywordAuthor | prebeta-1 HDL | - |
dc.subject.keywordAuthor | reverse cholesterol transport | - |
dc.subject.keywordAuthor | triglycerides | - |
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