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LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS(LPAQTL)

MedGen UID:
1710473
•Concept ID:
C5394134
•
Finding
Synonym: LPAQTL
 
Gene (location): LPA (6q25.3-26)
 
OMIM®: 618807

Definition

Lipoprotein(a) is a macromolecular complex in human plasma which represents a quantitative genetic trait with a heritability of 0.7 or higher. Lipoprotein(a) is composed of an LDL-like particle in which apoB (107730) is covalently bound by a single disulfide bond to apolipoprotein(a). Apo(a) has been demonstrated to be the main determinant of the quantitative Lp(a) trait. Variation in the number of plasminogen (PLG)-like kringle (K) IV type 2 tandem repeats in the apo(a) gene is inversely correlated to Lp(a) plasma levels in all populations studied. Several polymorphisms in the Lp(a) gene have been found to affect the apo(a) concentration level (summary by Ogorelkova et al., 1999). [from OMIM]

Recent clinical studies

Etiology

Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene.
Yu C, Bakshi A, Watts GF, Renton AE, Fulton-Howard B, Goate AM, Natarajan P, Chasman DI, Robman L, Woods RL, Guymer R, Wolfe R, Thao LTP, McNeil JJ, Tonkin AM, Nicholls SJ, Lacaze P
J Am Heart Assoc 2023 Nov 7;12(21):e031459. Epub 2023 Nov 6 doi: 10.1161/JAHA.123.031459. PMID: 37929782Free PMC Article
Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program.
Small AM, Peloso GM, Linefsky J, Aragam J, Galloway A, Tanukonda V, Wang LC, Yu Z, Sunitha Selvaraj M, Farber-Eger EH, Baker MT, Setia-Verma S, Lee SSK, Preuss M, Ritchie MD, Damrauer SM, Rader DJ, Wells QS, Loos R, Lubitz SA, Thanassoulis G, Cho K, Wilson PWF; VA Million Veteran Program, Natarajan P, O'Donnell CJ
Circulation 2023 Mar 21;147(12):942-955. Epub 2023 Feb 20 doi: 10.1161/CIRCULATIONAHA.122.061451. PMID: 36802703Free PMC Article
DNA methylation profiling identifies a high effect genetic variant for lipoprotein(a) levels.
Jones GT, Marsman J, Bhat B, Phillips VL, Chatterjee A, Rodger EJ, Williams MJA, van Rij AM, McCormick SPA
Epigenetics 2020 Sep;15(9):949-958. Epub 2020 Apr 1 doi: 10.1080/15592294.2020.1739797. PMID: 32237968Free PMC Article
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group
Nat Commun 2018 Jul 4;9(1):2606. doi: 10.1038/s41467-018-04668-w. PMID: 29973585Free PMC Article
Lipoprotein(a): resurrected by genetics.
Kronenberg F, Utermann G
J Intern Med 2013 Jan;273(1):6-30. Epub 2012 Nov 12 doi: 10.1111/j.1365-2796.2012.02592.x. PMID: 22998429

Diagnosis

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group
Nat Commun 2018 Jul 4;9(1):2606. doi: 10.1038/s41467-018-04668-w. PMID: 29973585Free PMC Article

Therapy

Associations of lipids and lipid-modifying drug target genes with atrial fibrillation risk based on genomic data.
Tao Y, Wang Y, Yin Y, Zhang K, Gong Y, Ying H, Jiang R
Lipids Health Dis 2024 Jun 8;23(1):175. doi: 10.1186/s12944-024-02163-4. PMID: 38851763Free PMC Article
Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program.
Small AM, Peloso GM, Linefsky J, Aragam J, Galloway A, Tanukonda V, Wang LC, Yu Z, Sunitha Selvaraj M, Farber-Eger EH, Baker MT, Setia-Verma S, Lee SSK, Preuss M, Ritchie MD, Damrauer SM, Rader DJ, Wells QS, Loos R, Lubitz SA, Thanassoulis G, Cho K, Wilson PWF; VA Million Veteran Program, Natarajan P, O'Donnell CJ
Circulation 2023 Mar 21;147(12):942-955. Epub 2023 Feb 20 doi: 10.1161/CIRCULATIONAHA.122.061451. PMID: 36802703Free PMC Article
Lipoprotein(a): resurrected by genetics.
Kronenberg F, Utermann G
J Intern Med 2013 Jan;273(1):6-30. Epub 2012 Nov 12 doi: 10.1111/j.1365-2796.2012.02592.x. PMID: 22998429

Prognosis

Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene.
Yu C, Bakshi A, Watts GF, Renton AE, Fulton-Howard B, Goate AM, Natarajan P, Chasman DI, Robman L, Woods RL, Guymer R, Wolfe R, Thao LTP, McNeil JJ, Tonkin AM, Nicholls SJ, Lacaze P
J Am Heart Assoc 2023 Nov 7;12(21):e031459. Epub 2023 Nov 6 doi: 10.1161/JAHA.123.031459. PMID: 37929782Free PMC Article
Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits.
Morrison AC, Huang Z, Yu B, Metcalf G, Liu X, Ballantyne C, Coresh J, Yu F, Muzny D, Feofanova E, Rustagi N, Gibbs R, Boerwinkle E
Am J Hum Genet 2017 Feb 2;100(2):205-215. Epub 2017 Jan 12 doi: 10.1016/j.ajhg.2016.12.009. PMID: 28089252Free PMC Article

Clinical prediction guides

Associations of lipids and lipid-modifying drug target genes with atrial fibrillation risk based on genomic data.
Tao Y, Wang Y, Yin Y, Zhang K, Gong Y, Ying H, Jiang R
Lipids Health Dis 2024 Jun 8;23(1):175. doi: 10.1186/s12944-024-02163-4. PMID: 38851763Free PMC Article
Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene.
Yu C, Bakshi A, Watts GF, Renton AE, Fulton-Howard B, Goate AM, Natarajan P, Chasman DI, Robman L, Woods RL, Guymer R, Wolfe R, Thao LTP, McNeil JJ, Tonkin AM, Nicholls SJ, Lacaze P
J Am Heart Assoc 2023 Nov 7;12(21):e031459. Epub 2023 Nov 6 doi: 10.1161/JAHA.123.031459. PMID: 37929782Free PMC Article
Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program.
Small AM, Peloso GM, Linefsky J, Aragam J, Galloway A, Tanukonda V, Wang LC, Yu Z, Sunitha Selvaraj M, Farber-Eger EH, Baker MT, Setia-Verma S, Lee SSK, Preuss M, Ritchie MD, Damrauer SM, Rader DJ, Wells QS, Loos R, Lubitz SA, Thanassoulis G, Cho K, Wilson PWF; VA Million Veteran Program, Natarajan P, O'Donnell CJ
Circulation 2023 Mar 21;147(12):942-955. Epub 2023 Feb 20 doi: 10.1161/CIRCULATIONAHA.122.061451. PMID: 36802703Free PMC Article
DNA methylation profiling identifies a high effect genetic variant for lipoprotein(a) levels.
Jones GT, Marsman J, Bhat B, Phillips VL, Chatterjee A, Rodger EJ, Williams MJA, van Rij AM, McCormick SPA
Epigenetics 2020 Sep;15(9):949-958. Epub 2020 Apr 1 doi: 10.1080/15592294.2020.1739797. PMID: 32237968Free PMC Article
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group
Nat Commun 2018 Jul 4;9(1):2606. doi: 10.1038/s41467-018-04668-w. PMID: 29973585Free PMC Article

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    • Gene
      Related information in NCBI Gene
    • GTR
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      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
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