Common mutations of familial hypercholesterolemia patients in Taiwan: Characteristics and implications of migrations from southeast China

Gene

Volumn 498, Issue 1, 2012, Pages 100-106

  Chiou, Kuan Rau ^a,c   Charng, Min Ji ^b,c  

^a KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Chinese; Familial hypercholesterolemia; Haplotype; Mutation; Taiwanese

Indexed keywords

APOLIPOPROTEIN B; CELL DNA; GENOMIC DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHINA; CHINESE; CONTROLLED STUDY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MIGRATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TAIWAN;

ADOLESCENT; ADULT; AGED; APOLIPOPROTEINS B; BASE SEQUENCE; CHILD; CHINA; DNA; DNA MUTATIONAL ANALYSIS; EMIGRATION AND IMMIGRATION; FEMALE; HAPLOTYPES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, LDL; TAIWAN; YOUNG ADULT;

EID: 84858157188     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.01.092     Document Type: Article

References (29)

1. Abifadel M., et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat. Genet. 2003, 34:154-156.
2. Austin M.A., Hutter C.M., Zimmern R.L., Humphries S.E. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am. J. Epidemiol. 2004, 160:407-420.
3. Brown M.S., Goldstein J.L. A receptor-mediated pathway for cholesterol homeostasis. Science 1986, 232:34-47.
4. Castillo S., et al. The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia. Atherosclerosis 2002, 165:127-135.
5. Chang J.H., et al. Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese. J. Lipid Res. 2003, 44:1850-1858.
6. Charng M.J., Chiou K.R., Chang H.M., Cheng H.M., Ye Z.X., Lin S.J. Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan. Eur. J. Clin. Invest. 2006, 36:866-874.
7. Chiou K.R., Charng M.J. Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia. Am. J. Cardiol. 2010, 105:1752-1758.
8. Chiu C.Y., Wu Y.C., Jenq S.F., Jap T.S. Mutations in low-density lipoprotein receptor gene as a cause of hypercholesterolemia in Taiwan. Metabolism 2005, 54:1082-1086.
9. 3500→tryptophan mutation associated with a unique haplotype. Clin. Chem. 1997, 43:916-923.
10. Chu J.Y., et al. Genetic relationship of populations in China. Proc. Natl. Acad. Sci. U. S. A. 1998, 95:11763-11768.
11. 3405→Gln) diminishes receptor-mediated uptake of LDL. Clin. Chem. 1999, 45:1026-1038.
12. Khoo K.L., et al. Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia. Clin. Genet. 2000, 58:98-105.
13. Lin M., et al. The origin of Minnan and Hakka, the so-called "Taiwanese", inferred by HLA study. Tissue Antigens 2001, 57:192-199.
14. Mak Y.T., et al. Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. Arterioscler. Thromb. Vasc. Biol. 1998, 18:1600-1605.
15. Mak Y.T., et al. Possible common mutations in the low density lipoprotein receptor gene in Chinese. Hum. Mutat. 1998, Suppl. 1:S310-S313.
16. Miserez A.R., Muller P.Y. Familial defective apolipoprotein B-100: a mutation emerged in the mesolithic ancestors of Celtic peoples?. Atherosclerosis 2000, 148:433-436.
17. Miyake Y., Yamamura T., Sakai N., Miyata T., Kokubo Y., Yamamoto A. Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population. Atherosclerosis 2009, 203:153-160.
18. Punzalan F.E., et al. A Low density lipoprotein-receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia. J. Atheroscler. Thromb. 2005, 12:276-283.
19. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Br. Med. J. 1991, 303:893-896. Scientific Steering Committee on behalf of the Simon Broome Register Group.
20. Soria L.F., Ludwig E.H., Clarke H.R., Vega G.L., Grundy S.M., McCarthy B.J. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc. Natl. Acad. Sci. U. S. A. 1989, 86:587-591.
21. Sun X.M., et al. Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype. Arterioscler. Thromb. 1994, 14:85-94.
22. 3500→Trp mutation in hyperlipidemic Chinese. Clin. Chem. 1998, 44:1659-1665.
23. Tejedor M.T., et al. Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene. Mol. Genet. Genomics 2010, 283:565-574.
24. Traeger-Synodinos J., et al. Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands. Hum. Genet. 1998, 102:343-347.
25. Ueda M. Familial hypercholesterolemia. Mol. Genet. Metab. 2005, 86:423-426.
26. Van Hoof D., Rodenburg K.W., Van der Horst D.J. Intracellular fate of LDL receptor family members depends on the cooperation between their ligand-binding and EGF domains. J. Cell Sci. 2005, 118:1309-1320.
27. Yang K.L., Chen S.P., Shyr M.H., Lin P.Y. High-resolution human leukocyte antigen (HLA) haplotypes and linkage disequilibrium of HLA-B and -C and HLA-DRB1 and -DQB1 alleles in a Taiwanese population. Hum. Immunol. 2009, 70:269-276.
28. Zakharova F.M., et al. Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. BMC Med. Genet. 2005, 6:6.
29. Zuliani G., Hobbs H.H. Dinucleotide repeat polymorphism at the 3' end of the LDL receptor gene. Nucleic Acids Res. 1990, 18:4300.