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LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8(LDLCQ8)

MedGen UID:: 1648349
•Concept ID:: C4748092
•: Finding

Synonym:	LDLCQ8

Gene (location): Gene(s) directly associated with this condition or phenotype.	LIMA1 (12q13.12)

OMIM®:	618079

Definition

LDLCQ8 is a quantitative trait affecting LDL cholesterol levels that is effected through the LIMA1 gene, which has a key role in intestinal cholesterol absorption. Individuals with LIMA1 mutations that impair protein function have reduced plasma LDL cholesterol levels and reduced cholesterol absorption (Zhang et al., 2018). [from OMIM]

Recent clinical studies

Etiology

Investigating Genetic Overlap between Alzheimer's Disease, Lipids, and Coronary Artery Disease: A Large-Scale Genome-Wide Cross Trait Analysis.

Kirby A, Porter T, Adewuyi EO, Laws SM
Int J Mol Sci 2024 Aug 13;25(16) doi: 10.3390/ijms25168814. PMID: 39201500 Free PMC Article

Potential association of genetically predicted lipid and lipid-modifying drugs with rheumatoid arthritis: A Mendelian randomization study.

Huang Z, Cui T, Yao J, Wu Y, Zhu J, Yang X, Cui L, Zhou H
PLoS One 2024;19(2):e0298629. Epub 2024 Feb 28 doi: 10.1371/journal.pone.0298629. PMID: 38416767 Free 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: 37929782 Free PMC Article

Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels.

Carlson JC, Weeks DE, Hawley NL, Sun G, Cheng H, Naseri T, Reupena MS, Tuitele J, Deka R, McGarvey ST, Minster RL
J Hum Genet 2021 Feb;66(2):111-121. Epub 2020 Aug 5 doi: 10.1038/s10038-020-0816-9. PMID: 32759990 Free PMC Article

Identifying low density lipoprotein cholesterol associated variants in the Annexin A2 (ANXA2) gene.

Fairoozy RH, Cooper J, White J, Giambartolomei C, Folkersen L, Wannamethee SG, Jefferis BJ, Whincup P, Ben-Shlomo Y, Kumari M, Kivimaki M, Wong A, Hardy R, Kuh D, Gaunt TR, Casas JP, McLachlan S, Price JF, Hingorani A, Franco-Cereceda A, Grewal T, Kalea AZ, Humphries SE; UCLEB consortium
Atherosclerosis 2017 Jun;261:60-68. Epub 2017 Apr 13 doi: 10.1016/j.atherosclerosis.2017.04.010. PMID: 28456096 Free PMC Article

See all (24)

Diagnosis

Potential association of genetically predicted lipid and lipid-modifying drugs with rheumatoid arthritis: A Mendelian randomization study.

Huang Z, Cui T, Yao J, Wu Y, Zhu J, Yang X, Cui L, Zhou H
PLoS One 2024;19(2):e0298629. Epub 2024 Feb 28 doi: 10.1371/journal.pone.0298629. PMID: 38416767 Free PMC Article

Identifying low density lipoprotein cholesterol associated variants in the Annexin A2 (ANXA2) gene.

Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies.

Hedman ÅK, Mendelson MM, Marioni RE, Gustafsson S, Joehanes R, Irvin MR, Zhi D, Sandling JK, Yao C, Liu C, Liang L, Huan T, McRae AF, Demissie S, Shah S, Starr JM, Cupples LA, Deloukas P, Spector TD, Sundström J, Krauss RM, Arnett DK, Deary IJ, Lind L, Levy D, Ingelsson E
Circ Cardiovasc Genet 2017 Jan;10(1):e001487. doi: 10.1161/CIRCGENETICS.116.001487. PMID: 28213390 Free PMC Article

Quantitative trait loci influencing low density lipoprotein particle size in African Americans.

Kullo IJ, Ding K, Boerwinkle E, Turner ST, de Andrade M
J Lipid Res 2006 Jul;47(7):1457-62. Epub 2006 Apr 19 doi: 10.1194/jlr.M600078-JLR200. PMID: 16625024

A novel quantitative trait locus on chromosome 1 with pleiotropic effects on HDL-cholesterol and LDL particle size in hypertensive sibships.

Kullo IJ, Turner ST, Boerwinkle E, Kardia SL, de Andrade M
Am J Hypertens 2005 Aug;18(8):1084-90. doi: 10.1016/j.amjhyper.2005.02.010. PMID: 16109322

See all (5)

Therapy

Investigating Genetic Overlap between Alzheimer's Disease, Lipids, and Coronary Artery Disease: A Large-Scale Genome-Wide Cross Trait Analysis.

Kirby A, Porter T, Adewuyi EO, Laws SM
Int J Mol Sci 2024 Aug 13;25(16) doi: 10.3390/ijms25168814. PMID: 39201500 Free PMC Article

Potential association of genetically predicted lipid and lipid-modifying drugs with rheumatoid arthritis: A Mendelian randomization study.

Huang Z, Cui T, Yao J, Wu Y, Zhu J, Yang X, Cui L, Zhou H
PLoS One 2024;19(2):e0298629. Epub 2024 Feb 28 doi: 10.1371/journal.pone.0298629. PMID: 38416767 Free PMC Article

Genome-wide identification of circulating-miRNA expression quantitative trait loci reveals the role of several miRNAs in the regulation of cardiometabolic phenotypes.

Nikpay M, Beehler K, Valsesia A, Hager J, Harper ME, Dent R, McPherson R
Cardiovasc Res 2019 Sep 1;115(11):1629-1645. doi: 10.1093/cvr/cvz030. PMID: 30715214

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, Pramstaller PP, Penninx BW, Janssens AC, Wilson JF, Spector T, Martin NG, Pedersen NL, Kyvik KO, Kaprio J, Hofman A, Freimer NB, Jarvelin MR, Gyllensten U, Campbell H, Rudan I, Johansson A, Marroni F, Hayward C, Vitart V, Jonasson I, Pattaro C, Wright A, Hastie N, Pichler I, Hicks AA, Falchi M, Willemsen G, Hottenga JJ, de Geus EJ, Montgomery GW, Whitfield J, Magnusson P, Saharinen J, Perola M, Silander K, Isaacs A, Sijbrands EJ, Uitterlinden AG, Witteman JC, Oostra BA, Elliott P, Ruokonen A, Sabatti C, Gieger C, Meitinger T, Kronenberg F, Döring A, Wichmann HE, Smit JH, McCarthy MI, van Duijn CM, Peltonen L; ENGAGE Consortium
Nat Genet 2009 Jan;41(1):47-55. Epub 2008 Dec 7 doi: 10.1038/ng.269. PMID: 19060911 Free PMC Article

See all (4)

Prognosis

Potential association of genetically predicted lipid and lipid-modifying drugs with rheumatoid arthritis: A Mendelian randomization study.

Huang Z, Cui T, Yao J, Wu Y, Zhu J, Yang X, Cui L, Zhou H
PLoS One 2024;19(2):e0298629. Epub 2024 Feb 28 doi: 10.1371/journal.pone.0298629. PMID: 38416767 Free PMC Article

Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene.

Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies.

Circulating YKL-40 level, but not CHI3L1 gene variants, is associated with atherosclerosis-related quantitative traits and the risk of peripheral artery disease.

Wu S, Hsu LA, Cheng ST, Teng MS, Yeh CH, Sun YC, Huang HL, Ko YL
Int J Mol Sci 2014 Dec 4;15(12):22421-37. doi: 10.3390/ijms151222421. PMID: 25486056 Free PMC Article

Genome-wide scan identifies novel QTLs for cholesterol and LDL levels in F2[Dahl RxS]-intercross rats.

Herrera VL, Didishvili T, Lopez LV, Myers RH, Ruiz-Opazo N
Circ Res 2004 Mar 5;94(4):446-52. Epub 2004 Jan 22 doi: 10.1161/01.RES.0000117770.03168.E7. PMID: 14739155

See all (5)

Clinical prediction guides

Investigating Genetic Overlap between Alzheimer's Disease, Lipids, and Coronary Artery Disease: A Large-Scale Genome-Wide Cross Trait Analysis.

Kirby A, Porter T, Adewuyi EO, Laws SM
Int J Mol Sci 2024 Aug 13;25(16) doi: 10.3390/ijms25168814. PMID: 39201500 Free PMC Article

Potential association of genetically predicted lipid and lipid-modifying drugs with rheumatoid arthritis: A Mendelian randomization study.

Huang Z, Cui T, Yao J, Wu Y, Zhu J, Yang X, Cui L, Zhou H
PLoS One 2024;19(2):e0298629. Epub 2024 Feb 28 doi: 10.1371/journal.pone.0298629. PMID: 38416767 Free PMC Article

Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene.

Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels.

Identifying low density lipoprotein cholesterol associated variants in the Annexin A2 (ANXA2) gene.

See all (20)