Mutations in the<i>ANGPTL3</i>Gene and Familial Combined Hypolipidemia: A Clinical and Biochemical Characterization

Minicocci, Ilenia; Mestice, Anna; Robciuc, Marius R.; Quagliarini, Fabiana; Censi, Vincenzo; Labbadia, Giancarlo; Gabiati, Claudia; Pigna, Giovanni; Sepe, Maria Laura; Pannozzo, Fabio; Lütjohann, Dieter; Fazio, Sergio; Jauhiainen, Matti; Ehnholm, Christian; Arca, Marcello

doi:10.1210/jc.2012-1298

Cited by 142 publications

(132 citation statements)

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“…The literature search was done on studies up to December 2012 with availability of an English-language abstract and without country restriction. This search yielded fi ve hits (7)(8)(9)(10)(11). Two authors (I.M.…”

Section: Data Sources and Study Selectionmentioning

confidence: 99%

“…It is caused by mutations in the Angiopoietin-like 3 gene ( ANGPTL3 ) that lead to the absence or the marked reduction of ANGPTL3 protein in the plasma (8)(9)(10)(11).…”

Section: Data Sources and Study Selectionmentioning

confidence: 99%

“…Finally, it has been suggested that the defi ciency of ANGPTL3 may be protective against atherosclerosis ( 22 ). In a previous report, homozygous FHBL2 subjects did not show evidence of history of cardiovascular disease, but the low number of cases investigated precluded any defi nitive conclusion ( 11 ).…”

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confidence: 97%

“…An additional aspect that remains to be clarifi ed is whether changes in glucose metabolism are part of the clinical phenotype associated with FHBL2. In fact, Minicocci et al ( 11 ) reported lower fasting glucose and the lack of diabetes mellitus among homozygous carriers of inactivating mutation in the ANGPTL3, but the consistency of these fi ndings remain to be confi rmed. Finally, it has been suggested that the defi ciency of ANGPTL3 may be protective against atherosclerosis ( 22 ).…”

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confidence: 99%

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Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

Minicocci

Santini

Cantisani

et al. 2013

Journal of Lipid Research

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Familial hypobetalipoproteinemia includes a heterogeneous group of inherited disorders of lipid metabolism typically characterized by very low levels (below the 5th percentile of age-and sex-specifi c values) of plasma low density lipoprotein cholesterol (LDL-C) and/or apo B ( 1, 2 ). Beside the very rare recessive disorder abetalipoproteinemia (ABL, OMIM # 200100) caused by mutation in the gene coding for the microsomal triglyceride transfer protein ( MTP ), the best-characterized cases are those with Press, September 19, 2013 DOI 10.1194 Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis Abbreviations: ANGPTL3, angiopoietin-like 3; BMI, body mass index; FBG, fasting blood glucose; FHBL, familial hypobetalipoproteinemia; FHBL2, familial combined hypolipidemia; FLI, fatty liver index; ␥ -GT, ␥ -glutamyltranspeptidase; GFR, glomerular fi ltration rate; Lp(a), lipoprotein(a); TG, triglyceride . ); National Institutes of Health Grant K08-HL-114642 (to N.S.); Massachusetts General Hospital (MGH) Research Scholar Award and Howard Goodman Fellowship (to S.K.); Donovan Family Foundation Grant (to S.K.), National Institutes of Health Grant R01 HL-107816 (to S.K.); and Fondation Leducq Grant (to S.K.). Manuscript received 7 May 2013 and in revised form 17 September 2013. Published, JLR Papers in

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Section: Data Sources and Study Selectionmentioning

confidence: 99%

“…It is caused by mutations in the Angiopoietin-like 3 gene ( ANGPTL3 ) that lead to the absence or the marked reduction of ANGPTL3 protein in the plasma (8)(9)(10)(11).…”

Section: Data Sources and Study Selectionmentioning

confidence: 99%

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confidence: 97%

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confidence: 99%

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Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

Minicocci

Santini

Cantisani

et al. 2013

Journal of Lipid Research

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“…In recent years, numerous efforts have been made to predict susceptibility to diseases on the basis of ANGPTL3 gene variations (Willer et al, 2008;Minicocci et al, 2012;Noto et al, 2012). Several single nucleotide polymorphisms (SNPs) near ANGPTL3 have been associated with plasma lipid concentrations in human.…”

Section: Introductionmentioning

confidence: 99%

Tissue expression and predicted protein structures of the bovine ANGPTL3 and association of novel SNPs with growth and meat quality traits

Chen

Yang

et al. 2015

Animal

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Angiopoietin-like protein 3 (ANGPTL3) is a secreted protein that regulates lipid, glucose and energy metabolism. This study was conducted to better understand the effect of ANGPTL3 on important economic traits in cattle. First, transcript profiles for ANGPTL3 were measured in nine different Jiaxian cattle tissues. Second, polymorphisms were identified in the complete coding region and promoter region of the bovine ANGPTL3 gene in 707 cattle samples. Finally, an association study was carried out utilizing these single nucleotide polymorphisms (SNPs) to determine the effect of these SNPs on the growth and meat quality traits. Quantitative real-time PCR analysis showed that ANGPTL3 was mainly expressed in the liver. The promoter of the bovine ANGPTL3 contained several putative transcription factor binding sites (SF1, HNF-1, LXRα, NFκβ, HNF-3 and C/EBP). In total, four SNPs of the bovine ANGPTL3 gene were identified by direct sequencing. SNP1 (rs469906272: g. − 38T > C) was identified in the promoter, SNP2 (rs451104723:g.104A > T) and SNP3 (rs482516226: g.509A > G) were identified in exon 1, and SNP4 (rs477165942: g.8661T > C) was identified in exon 6. Changes in predicted protein structures due to non-synonymous SNPs were analyzed. Haplotype frequencies and linkage disequilibrium were also investigated. Analysis of four SNPs in cattle from different native Chinese breeds (Nanyang (NY) and Jiaxian (JX)) and commercial breeds (Angus (AG), Hereford (HF), Limousin (LM), Luxi (LX), Simmental (ST) and Jinnan (JN)) revealed a significant association with growth traits (including: BW and hipbone width) and meat quality traits (including: Warner-Bratzler shear force and ribeye area). Therefore, implementation of these four mutations in selection indices in the beef industry may be beneficial in selecting individuals with superior growth and meat quality traits.

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Molecular Genetics of Hypobetalipoproteinaemia and Abetalipoproteinaemia

Hooper

Burnett

2013

Encyclopedia of Life Sciences

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Genetic disorders of lipoprotein metabolism can cause marked hypocholesterolaemia with low or absent low‐density lipoprotein (LDL) cholesterol and apolipoprotein B (apoB) concentrations in plasma, depending on the gene involved and mode of inheritance of the condition, together with the severity of the mutation or mutations present. Hypobetalipoproteinaemia is defined as a plasma LDL cholesterol and apoB less than the 5th centile for age and sex, and when mutations in the APOB gene are inherited in a codominant fashion is known as familial hypobetalipoproteinaemia (FHBL). Abetalipoproteinaemia, which is clinically indistinguishable from homozygous FHBL, is a very rare recessive disorder caused by mutations in MTTP and characterised by the absence of apoB‐containing lipoproteins in the plasma. Loss‐of‐function mutations in PCSK9 , particularly nonsense mutations, are also associated with hypobetalipoproteinaemia, but lack any clinical features. More recently, mutations in ANGPTL3 were found to cause recessive familial combined hypolipidaemia, characterised by a reduction in all plasma lipids. Key Concepts: Hypobetalipoproteinaemia is defined as low levels (<5th centile) of plasma LDL cholesterol and apolipoprotein B, whereas in abetalipoproteinaemia these analytes may be undetectable. Heterozygous FHBL is generally caused by truncations in apoB, and is associated with hepatic steatosis and a low risk of cardiovascular disease. Homozygous FHBL and abetalipoproteinaemia result in a variable clinical phenotype and are caused by mutations in APOB and MTTP , respectively. Loss‐of‐function mutations in PCSK9 are associated with low plasma LDL cholesterol concentrations and low risk of cardiovascular disease, and no clinical phenotype. ANGPTL3 mutations cause familial combined hypolipidaemia, a newly described recessive condition characterised by reductions in all plasma lipids.

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Mutations in theANGPTL3Gene and Familial Combined Hypolipidemia: A Clinical and Biochemical Characterization

Cited by 142 publications

References 32 publications

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

Tissue expression and predicted protein structures of the bovine ANGPTL3 and association of novel SNPs with growth and meat quality traits

Molecular Genetics of Hypobetalipoproteinaemia and Abetalipoproteinaemia

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