LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a taiwanese population

Journal of the Formosan Medical Association

Volumn 106, Issue 10, 2007, Pages 799-807

  Yang, Kai Chien ^a   Su, Yi Ning ^b   Shew, Jin Yuh ^c   Yang, Kai Ying ^a   Tseng, Wei Kung ^a   Wu, Chau Chung ^a,b   Lee, Yuan Teh ^b  

^a E DA HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

APOB; Autosomal dominant hypercholesterolemia; LDLR; PCSK9; Taiwanese

Indexed keywords

APOLIPOPROTEIN B; ARGININE; ASPARAGINE; ASPARTIC ACID; CYSTEINE; GLYCINE; KEXIN; LIPID; LOW DENSITY LIPOPROTEIN RECEPTOR; METHIONINE; SERINE PROTEINASE; SUBTILISIN; TRYPTOPHAN; TYROSINE; VALINE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; FAMILY; FEMALE; GENE FUNCTION; GENETIC ANALYSIS; HUMAN; HYPERCHOLESTEROLEMIA; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; TAIWAN;

EID: 36148944337     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-6646(08)60044-3     Document Type: Article

References (36)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hyper-cholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, Volume III. New York: McGraw Hill, 2001: 2863-914.
2. Heath KE, Gahan M, Whittall RA, Humphries S. Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis. Atherosclerosis 2001;154: 243-6.
3. Gaffney D, Reid JM, Cameron IM, et al. Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. Arterioscler Thromb Vasc Biol 1995;15:1025-9.
4. Myant NB. Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia. Atherosclerosis 1993;104:1-18.
5. Varret M, Rabes JP, Saint-Jore B, et al. A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. Am J Hum Genet 1999;64:1378-87.
6. Hunt SC, Hopkins PN, Bulka K, et al. Genetic localization to chromosome 1p32 of the third locus for familial hyper-cholesterolemia in a Utah kindred. Arterioscler Thromb Vasc Biol 2000;20:1089-93.
7. Abifadel M, Varret M, Rabes JP, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003;34:154-6.
8. Timms KM, Wagner S, Samuels ME, et al. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet 2004;114:349-53.
9. Seidah NG, Benjannet S, Wickham L, et al. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc Natl Acad Sci USA 2003;100: 928-33.
10. Maruyama T, Miyake Y, Tajima S, et al. Common mutations in the low-density-lipoprotein receptor gene causing familial hypercholesterolemia in the Japanese population. Arterioscler Thromb Vasc Biol 1995;15:1713-8.
11. Charng MJ, Chiou KR, Chang HM, et al. Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan. Eur J Clin Invest 2006;36:866-74.
12. Pan WH, Chiang BN. Plasma lipid profiles and epidemiology of atherosclerotic diseases in Taiwan - a unique experience. Atherosclerosis 1995;118:285-95.
13. Chang HY, Yeh WT, Chang YH, et al. Prevalence of dyslipidemia and mean blood lipid values in Taiwan: results from the Nutrition and Health Survey in Taiwan (NAHSIT, 1993-1996). Chin J Physiol 2002;45:187-97.
14. Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 1972;18:499-502.
15. Pullinger CR, Hennessy LK, Chatterton JE, et al. Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest 995;95:1225-34.
16. Boren J, Ekstrom U, Agren B, et al. The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. J Biol Chem 2001;276:9214-8.
17. Bednarska-Makaruk M, Bisko M, Pulawska MF, et al. Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492lle in the apolipoprotein B gene. Eur J Hum Genet 2001;9:836-42.
18. Gaffney D, Pullinger CR, O'Reilly DS, et al. Influence of an asparagine to lysine mutation at amino acid 3516 of apolipoprotein B on low-density lipoprotein receptor binding. Clin Chim Acta 2002;321:113-21.
19. Mak YT, Pang CP, Tomlinson B, et al. Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. Arterioscler Thromb Vasc Biol 1998;18:1600-5.
20. Sun XM, Patel DD, Knight BL, Soutar AK. Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group. Arterioscler Thromb Vasc Biol 1997;17:3092-101.
21. van der Westhuyzen DR, Coetzee GA, Demasius IP, et al. Low density lipoprotein receptor mutations in South African homozygous familial hypercholesterolemic patients. Arteriosclerosis 1984;4:238-47.
22. Reshef A, Nissen H, Triger L, et al. Molecular genetics of familial hypercholesterolemia in Israel. Hum Genet 1996; 98:581-6.
23. Benlian P, Dairou F, de Gennes JL. Molecular genetics in pure primary hypercholesterolemia. Bull Acad Natl Med 1994;178:393-404.
24. Pimstone SN, Sun XM, du Souich C, et al. Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada. Arterioscler Thromb Vasc Biol 1998;18:309-15.
25. Soutar AK. A polymorphism in exon 2 of the human LDL-receptor gene (LDLR). Nucleic Acids Res 1991;19:4314.
26. Warnich L, Kotze MJ, Langenhoven E, Retief AE. Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene. Hum Genet 1992; 89:362.
27. Yamakawa-Kobayashi K, Kobayashi T, Obara T, Hamaguchi H. Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis. Hum Genet 1993;92:76-8.
28. Hobbs HH, Esser V, Russell DW. Avall polymorphism in the human LDL receptor gene. Nucleic Acids Res 1987;15:379.
29. Leren TP. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin Genet 2004; 65:419-22.
30. Robles-Osorio L, Huerta-Zepeda A, Ordonez ML, et al. Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico. Arch Med Res 2006;37:102-8.
31. Ekstrom U, Abrahamson M, Sveger T, et al. An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia. Hum Genet 1995;96:147-50.
32. Teng YN, Pan JP, Chou SC, et al. Familial defective apolipoprotein B-100: detection and haplotype analysis of the Arg(3500)→Gln mutation in hyperlipidemic Chinese. Atherosclerosis 2000; 152:385-90.
33. Rabes JP, Varret M, Devillers M, et al. R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia. Arterioscler Thromb Vasc Biol 2000;20: E76-82.
34. Damgaard D, Jensen JM, Larsen ML, et al. No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the familial hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes. Atherosclerosis 2004;177:415-22.
35. Khoo KL, van Acker P, Defesche JC, et al. Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia. Clin Genet 2000;58:98-105.
36. Williams R, Hunt S, Schumacher C, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993;72:171-6.