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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): 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

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: 38416767Free PMC Article
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
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: 28456096Free PMC Article
Guthrie PA, Rodriguez S, Gaunt TR, Lawlor DA, Smith GD, Day IN
Gene 2012 May 10;499(1):8-13. Epub 2012 Mar 11 doi: 10.1016/j.gene.2012.03.034. PMID: 22433445Free PMC Article
Hokanson JE, Brunzell JD, Jarvik GP, Wijsman EM, Austin MA
Am J Hum Genet 1999 Feb;64(2):608-18. doi: 10.1086/302234. PMID: 9973300Free PMC Article

Diagnosis

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: 38416767Free PMC Article
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: 28456096Free PMC Article
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: 28213390Free PMC Article
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
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

Therapy

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: 38416767Free PMC Article
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
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: 19060911Free PMC Article

Prognosis

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: 38416767Free PMC Article
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
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: 28213390Free PMC Article
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: 25486056Free PMC Article
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

Clinical prediction guides

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: 38416767Free PMC Article
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
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: 28456096Free PMC Article
Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, Kaplan L, Bennett D, Li Y, Tanaka T, Voight BF, Bonnycastle LL, Jackson AU, Crawford G, Surti A, Guiducci C, Burtt NP, Parish S, Clarke R, Zelenika D, Kubalanza KA, Morken MA, Scott LJ, Stringham HM, Galan P, Swift AJ, Kuusisto J, Bergman RN, Sundvall J, Laakso M, Ferrucci L, Scheet P, Sanna S, Uda M, Yang Q, Lunetta KL, Dupuis J, de Bakker PI, O'Donnell CJ, Chambers JC, Kooner JS, Hercberg S, Meneton P, Lakatta EG, Scuteri A, Schlessinger D, Tuomilehto J, Collins FS, Groop L, Altshuler D, Collins R, Lathrop GM, Melander O, Salomaa V, Peltonen L, Orho-Melander M, Ordovas JM, Boehnke M, Abecasis GR, Mohlke KL, Cupples LA
Nat Genet 2009 Jan;41(1):56-65. Epub 2008 Dec 7 doi: 10.1038/ng.291. PMID: 19060906Free PMC Article
Hokanson JE, Brunzell JD, Jarvik GP, Wijsman EM, Austin MA
Am J Hum Genet 1999 Feb;64(2):608-18. doi: 10.1086/302234. PMID: 9973300Free PMC Article

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