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Low density lipoprotein cholesterol level quantitative trait locus 6(LDLCQ6)

MedGen UID:
462184
•Concept ID:
C3150834
•
Finding
Synonym: LDLCQ6
 
Gene (location): SORT1 (1p13.3)
 
OMIM®: 613589

Professional guidelines

PubMed

Genotype-by-sex interaction in the regulation of high-density lipoprotein: the Framingham Heart Study.
Mosher MJ, Martin LJ, Cupples LA, Yang Q, Dyer TD, Williams JT, North KE
Hum Biol 2005 Dec;77(6):773-93. doi: 10.1353/hub.2006.0017. PMID: 16715837

Recent clinical studies

Etiology

An overview of detecting gene-trait associations by integrating GWAS summary statistics and eQTLs.
Zhang Y, Wang M, Li Z, Yang X, Li K, Xie A, Dong F, Wang S, Yan J, Liu J
Sci China Life Sci 2024 Jun;67(6):1133-1154. Epub 2024 Mar 29 doi: 10.1007/s11427-023-2522-8. PMID: 38568343
Association of HMGCR inhibition with rheumatoid arthritis: a Mendelian randomization and colocalization study.
Ma L, Du Y, Ma C, Liu M
Front Endocrinol (Lausanne) 2023;14:1272167. Epub 2023 Nov 17 doi: 10.3389/fendo.2023.1272167. PMID: 38047111Free 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
Genetic variants modulate gene expression statin response in human lymphoblastoid cell lines.
Theusch E, Chen YI, Rotter JI, Krauss RM, Medina MW
BMC Genomics 2020 Aug 12;21(1):555. doi: 10.1186/s12864-020-06966-4. PMID: 32787775Free 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

Association of HMGCR inhibition with rheumatoid arthritis: a Mendelian randomization and colocalization study.
Ma L, Du Y, Ma C, Liu M
Front Endocrinol (Lausanne) 2023;14:1272167. Epub 2023 Nov 17 doi: 10.3389/fendo.2023.1272167. PMID: 38047111Free PMC Article
Protective role of the apolipoprotein E2 allele in age-related disease traits and survival: evidence from the Long Life Family Study.
Kulminski AM, Raghavachari N, Arbeev KG, Culminskaya I, Arbeeva L, Wu D, Ukraintseva SV, Christensen K, Yashin AI
Biogerontology 2016 Nov;17(5-6):893-905. Epub 2016 Jul 22 doi: 10.1007/s10522-016-9659-3. PMID: 27447179Free PMC Article
Post-GWAS methodologies for localisation of functional non-coding variants: ANGPTL3.
Oldoni F, Palmen J, Giambartolomei C, Howard P, Drenos F, Plagnol V, Humphries SE, Talmud PJ, Smith AJ
Atherosclerosis 2016 Mar;246:193-201. Epub 2015 Dec 12 doi: 10.1016/j.atherosclerosis.2015.12.009. PMID: 26800306Free PMC Article

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: 39201500Free PMC Article
An overview of detecting gene-trait associations by integrating GWAS summary statistics and eQTLs.
Zhang Y, Wang M, Li Z, Yang X, Li K, Xie A, Dong F, Wang S, Yan J, Liu J
Sci China Life Sci 2024 Jun;67(6):1133-1154. Epub 2024 Mar 29 doi: 10.1007/s11427-023-2522-8. PMID: 38568343
Association of HMGCR inhibition with rheumatoid arthritis: a Mendelian randomization and colocalization study.
Ma L, Du Y, Ma C, Liu M
Front Endocrinol (Lausanne) 2023;14:1272167. Epub 2023 Nov 17 doi: 10.3389/fendo.2023.1272167. PMID: 38047111Free PMC Article
Genetic variants modulate gene expression statin response in human lymphoblastoid cell lines.
Theusch E, Chen YI, Rotter JI, Krauss RM, Medina MW
BMC Genomics 2020 Aug 12;21(1):555. doi: 10.1186/s12864-020-06966-4. PMID: 32787775Free 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
Protective role of the apolipoprotein E2 allele in age-related disease traits and survival: evidence from the Long Life Family Study.
Kulminski AM, Raghavachari N, Arbeev KG, Culminskaya I, Arbeeva L, Wu D, Ukraintseva SV, Christensen K, Yashin AI
Biogerontology 2016 Nov;17(5-6):893-905. Epub 2016 Jul 22 doi: 10.1007/s10522-016-9659-3. PMID: 27447179Free 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
Genome-wide scan for quantitative trait loci influencing LDL size and plasma triglyceride in familial hypertriglyceridemia.
Austin MA, Edwards KL, Monks SA, Koprowicz KM, Brunzell JD, Motulsky AG, Mahaney MC, Hixson JE
J Lipid Res 2003 Nov;44(11):2161-8. Epub 2003 Aug 16 doi: 10.1194/jlr.M300272-JLR200. PMID: 12923221

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: 39201500Free 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
Genome-wide scan for quantitative trait loci influencing LDL size and plasma triglyceride in familial hypertriglyceridemia.
Austin MA, Edwards KL, Monks SA, Koprowicz KM, Brunzell JD, Motulsky AG, Mahaney MC, Hixson JE
J Lipid Res 2003 Nov;44(11):2161-8. Epub 2003 Aug 16 doi: 10.1194/jlr.M300272-JLR200. PMID: 12923221
Locus controlling LDL cholesterol response to dietary cholesterol is on baboon homologue of human chromosome 6.
Kammerer CM, Rainwater DL, Cox LA, Schneider JL, Mahaney MC, Rogers J, VandeBerg JL
Arterioscler Thromb Vasc Biol 2002 Oct 1;22(10):1720-5. doi: 10.1161/01.atv.0000032133.12377.4d. PMID: 12377755
Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency.
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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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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