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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

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
Spracklen CN, Chen P, Kim YJ, Wang X, Cai H, Li S, Long J, Wu Y, Wang YX, Takeuchi F, Wu JY, Jung KJ, Hu C, Akiyama K, Zhang Y, Moon S, Johnson TA, Li H, Dorajoo R, He M, Cannon ME, Roman TS, Salfati E, Lin KH, Guo X, Sheu WHH, Absher D, Adair LS, Assimes TL, Aung T, Cai Q, Chang LC, Chen CH, Chien LH, Chuang LM, Chuang SC, Du S, Fan Q, Fann CSJ, Feranil AB, Friedlander Y, Gordon-Larsen P, Gu D, Gui L, Guo Z, Heng CK, Hixson J, Hou X, Hsiung CA, Hu Y, Hwang MY, Hwu CM, Isono M, Juang JJ, Khor CC, Kim YK, Koh WP, Kubo M, Lee IT, Lee SJ, Lee WJ, Liang KW, Lim B, Lim SH, Liu J, Nabika T, Pan WH, Peng H, Quertermous T, Sabanayagam C, Sandow K, Shi J, Sun L, Tan PC, Tan SP, Taylor KD, Teo YY, Toh SA, Tsunoda T, van Dam RM, Wang A, Wang F, Wang J, Wei WB, Xiang YB, Yao J, Yuan JM, Zhang R, Zhao W, Chen YI, Rich SS, Rotter JI, Wang TD, Wu T, Lin X, Han BG, Tanaka T, Cho YS, Katsuya T, Jia W, Jee SH, Chen YT, Kato N, Jonas JB, Cheng CY, Shu XO, He J, Zheng W, Wong TY, Huang W, Kim BJ, Tai ES, Mohlke KL, Sim X
Hum Mol Genet 2017 May 1;26(9):1770-1784. doi: 10.1093/hmg/ddx062. PMID: 28334899Free 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

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
van der Graaf A, Claringbould A, Rimbert A; BIOS Consortium, Westra HJ, Li Y, Wijmenga C, Sanna S
Nat Commun 2020 Oct 1;11(1):4930. doi: 10.1038/s41467-020-18716-x. PMID: 33004804Free 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
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

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
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
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

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
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
Bossé Y, Després JP, Chagnon YC, Rice T, Rao DC, Bouchard C, Pérusse L, Vohl MC
Obesity (Silver Spring) 2007 Mar;15(3):544-50. doi: 10.1038/oby.2007.577. PMID: 17372302
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

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