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High density lipoprotein cholesterol level quantitative trait locus 6(HDLCQ6)

MedGen UID:
343969
Concept ID:
C1853096
Finding
Synonym: HDLCQ6
 
Gene (location): SCARB1 (12q24.31)
 
OMIM®: 610762

Definition

A lipid transport disorder characterized by extremely elevated levels of high density lipoprotein cholesterol (HDL C; HDLC). It is caused by heterozygous mutations in the SCARB1 gene that result in decreased transport of HCL C into the liver by scavenger receptor class B member 1. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHigh density lipoprotein cholesterol level quantitative trait locus 6

Professional guidelines

PubMed

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

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
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
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
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
Almasy L, Hixson JE, Rainwater DL, Cole S, Williams JT, Mahaney MC, VandeBerg JL, Stern MP, MacCluer JW, Blangero J
Am J Hum Genet 1999 Jun;64(6):1686-93. doi: 10.1086/302425. PMID: 10330356Free PMC Article

Diagnosis

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
Olswold C, de Andrade M
BMC Genet 2003 Dec 31;4 Suppl 1(Suppl 1):S57. doi: 10.1186/1471-2156-4-S1-S57. PMID: 14975125Free PMC Article

Therapy

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
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
de Klerk JA, Beulens JWJ, Mei H, Bijkerk R, van Zonneveld AJ, Koivula RW, Elders PJM, 't Hart LM, Slieker RC
Diabetologia 2023 Jun;66(6):1057-1070. Epub 2023 Feb 24 doi: 10.1007/s00125-023-05886-8. PMID: 36826505Free PMC Article
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
Lyons MA, Wittenburg H, Li R, Walsh KA, Churchill GA, Carey MC, Paigen B
J Lipid Res 2003 May;44(5):953-67. Epub 2003 Feb 16 doi: 10.1194/jlr.M300002-JLR200. PMID: 12588951

Prognosis

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
Tukiainen T, Kettunen J, Kangas AJ, Lyytikäinen LP, Soininen P, Sarin AP, Tikkanen E, O'Reilly PF, Savolainen MJ, Kaski K, Pouta A, Jula A, Lehtimäki T, Kähönen M, Viikari J, Taskinen MR, Jauhiainen M, Eriksson JG, Raitakari O, Salomaa V, Järvelin MR, Perola M, Palotie A, Ala-Korpela M, Ripatti S
Hum Mol Genet 2012 Mar 15;21(6):1444-55. Epub 2011 Dec 9 doi: 10.1093/hmg/ddr581. PMID: 22156771
Yang R, Li L, Seidelmann SB, Shen GQ, Sharma S, Rao S, Abdullah KG, Mackinlay KG, Elston RC, Chen Q, Topol EJ, Wang QK
J Lipid Res 2010 Jun;51(6):1442-51. Epub 2010 Jan 14 doi: 10.1194/jlr.M004325. PMID: 20075193Free 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
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

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
Lee S, Kim J, Ohn JH
BMC Genomics 2023 Dec 18;24(1):787. doi: 10.1186/s12864-023-09903-3. PMID: 38110883Free 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
Roman TS, Marvelle AF, Fogarty MP, Vadlamudi S, Gonzalez AJ, Buchkovich ML, Huyghe JR, Fuchsberger C, Jackson AU, Wu Y, Civelek M, Lusis AJ, Gaulton KJ, Sethupathy P, Kangas AJ, Soininen P, Ala-Korpela M, Kuusisto J, Collins FS, Laakso M, Boehnke M, Mohlke KL
Am J Hum Genet 2015 Dec 3;97(6):801-15. doi: 10.1016/j.ajhg.2015.10.016. PMID: 26637976Free PMC Article
Fall T, Hägg S, Mägi R, Ploner A, Fischer K, Horikoshi M, Sarin AP, Thorleifsson G, Ladenvall C, Kals M, Kuningas M, Draisma HH, Ried JS, van Zuydam NR, Huikari V, Mangino M, Sonestedt E, Benyamin B, Nelson CP, Rivera NV, Kristiansson K, Shen HY, Havulinna AS, Dehghan A, Donnelly LA, Kaakinen M, Nuotio ML, Robertson N, de Bruijn RF, Ikram MA, Amin N, Balmforth AJ, Braund PS, Doney AS, Döring A, Elliott P, Esko T, Franco OH, Gretarsdottir S, Hartikainen AL, Heikkilä K, Herzig KH, Holm H, Hottenga JJ, Hyppönen E, Illig T, Isaacs A, Isomaa B, Karssen LC, Kettunen J, Koenig W, Kuulasmaa K, Laatikainen T, Laitinen J, Lindgren C, Lyssenko V, Läärä E, Rayner NW, Männistö S, Pouta A, Rathmann W, Rivadeneira F, Ruokonen A, Savolainen MJ, Sijbrands EJ, Small KS, Smit JH, Steinthorsdottir V, Syvänen AC, Taanila A, Tobin MD, Uitterlinden AG, Willems SM, Willemsen G, Witteman J, Perola M, Evans A, Ferrières J, Virtamo J, Kee F, Tregouet DA, Arveiler D, Amouyel P, Ferrario MM, Brambilla P, Hall AS, Heath AC, Madden PA, Martin NG, Montgomery GW, Whitfield JB, Jula A, Knekt P, Oostra B, van Duijn CM, Penninx BW, Smith GD, Kaprio J, Samani NJ, Gieger C, Peters A, Wichmann HE, Boomsma DI, de Geus EJ, Tuomi T, Power C, Hammond CJ, Spector TD, Lind L, Orho-Melander M, Palmer CN, Morris AD, Groop L, Järvelin MR, Salomaa V, Vartiainen E, Hofman A, Ripatti S, Metspalu A, Thorsteinsdottir U, Stefansson K, Pedersen NL, McCarthy MI, Ingelsson E, Prokopenko I; European Network for Genetic and Genomic Epidemiology (ENGAGE) consortium
PLoS Med 2013;10(6):e1001474. Epub 2013 Jun 25 doi: 10.1371/journal.pmed.1001474. PMID: 23824655Free PMC Article

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