Influence of β0-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia: A study of patients with familial hypercholesterolemia from Sardinia

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 20, Issue 1, 2000, Pages 236-243

  Deiana, Luca ^a   Garuti, Rita ^b   Pes, Giovanni Mario ^a   Carru, Ciriaco ^a   Errigo, Alessandra ^a   Rolleri, Marina ^c   Pisciotta, Livia ^c   Masturzo, Paola ^c   Cantafora, Alfredo ^d   Calandra, Sebastiano ^b   Bertolini, Stefano ^c,e  

^a UNIVERSITY OF SASSARI   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^e Department of Internal Medicine ^*  (Italy)

Author keywords

Familial hypercholesterolemia; Gene gene interaction; Low density lipoprotein receptor gene mutations; thalassemia

Indexed keywords

CHOLESTEROL;

ARTICLE; BETA THALASSEMIA; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; HYPOCHOLESTEROLEMIA; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL;

EID: 0033976610     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.20.1.236     Document Type: Article

References (59)

1. Goldstein JL. Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle I, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995:1981-2030.
2. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat. 1992;1: 445-466.
3. Piazza A. Who are the Europeans? Science. 1993;260:1767-1769.
4. Spoor CF, Sondaar PY. Human fossils from the endemic island fauna of Sardinia. J Hum Evol. 1986;15:399-408.
5. Giancheddu A, Demelia L, Puggioni G, Nurchi AM, Contu L, Pirari G, Deplano A, Rachele MG. Epidemiologic study of hepatolenticular degeneration (Wilson's disease) in Sardinia (1902-1983). Acta Neurol Scand. 1985;72:43-55.
6. Figus A, Angius A, Loudianos G, Bertini C, Dessì V, Loi A, Deiana M, Lovicu M, Olla N, Sole G. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet. 1995;57:1318-1324.
7. Muntoni S, Songini M. High incidence rate of IDDM in Sardinia: Sardinian collaborative group for the epidemiology of IDDM. Diabetes Care. 1992;15:1317-1322.
8. Cao A, Galanello R, Furbetta M, Muroni PP, Garbato L, Rosatelli C, Scalas MT, Addis M, Ruggieri R, Maccioni L, Melis MA. Thalassemia types and their incidence in Sardinia. J Med Genet. 1978;15:443-447.
9. Luzzatto L; Mehta A. Glucose 6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995:3367-3398.
10. Cao A, Gossens M, Pirastu M. Beta thalassemia mutations in Mediterranean populations. Br J Haematol. 1989;71:309-312.
11. Rosaielli MC, Dozy A. Faà V, Meloni A, Sardu R, Saba L, Kan YW, Cao A. Molecular characterisation of beta-thalassemia in Sardinian population. Am J Hum Genet. 1992;50:422-426.
12. Contu L, Arras M, Carcassi C, La Nasa G, Mulargia M. HLA structure of the Sardinian population: a haplotype study of 551 families. Tissue Antigens. 1992;40:165-174.
13. Giardini O, Murgia F, Martino F, Mannarino O, Corrado G, Maggioni G. Serum lipid pattern in β-thalassemia. Acta Haematol. 1978;60:100-107.
14. Maioli M, Cuccuru GB, Pranzetti P, Pacifico A, Cherchi GM. Plasma lipids and lipoproteins pattern in beta-thalassemia. Acta Haematol. 1984; 71:106-110.
15. Goldfarb AW, Eliezer A, Rachmilewitz A, Eisenberg S. Abnormal low and high density lipoproteins in homozygous beta-thalassaemia. Br J Haematol. 1991;79:481-486.
16. Maioli M, Pettinato S, Cherchi GM, Giraudi D, Pacifico A, Pupita G, Tidore MGB. Plasma lipids in beta-thalassemia minor. Atherosclerosis. 1989;75:245-248.
17. Maioli M, Vigna GB, Tonolo G, Brizzi P, Ciccarese M, Donega P, Maioli M, Fellin R. Plasma lipoprotein composition, apolipoprotein(a) concentration and isoforms in β-thalassemia. Atherosclerosis. 1997;131: 127-133.
18. Wang C-H, Schilling RF. Myocardial infarction and thalassemia trait: an example of heterozygote advantage. Am J Hematol. 1995;49:73-75.
19. Tassiopoulos T, Stamaleolos G, Zakopoulos N, Fessas P, Eliopoulos GD. Low incidence of acute myocardial infarction in beta-thalassaemia trait carriers. Haematologia. 1995;26:199-203.
20. Gallerani M, Scapolis C, Cicognani I, Ricci A, Martinelli L, Cappato R, Manfredini R, Dall'Ara G, Faggioli M, Pareschi PL. Thalassemia trait and myocardial infarction: low infarction incidence in male subjects confirmed. J Intern Med. 1991;230:109-111.
21. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual. 2nd ed. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press; 1989.
22. Patel DD, Lelli N, Garuti R, Li Volti S, Bertolini S, Knight BL, Calandra S. Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor. J Lipid Res. 1998;39:1466-1475.
23. Bertolini S, Coviello DA, Masturzo P, Zucchetto E, Elicio N, Balestreri R, Orecchini G, Calandra S, Humphries S. RFLPs of the LDL-receptor gene: their use in the diagnosis of FH and in evaluation of different levels of gene expression on normal subjects. Eur J Epidemiol. 1992(8 suppl 1):18-25.
24. Humphries S, King-Underwood L, Gudnason V, Seed M, Delattre S, Clavey V, Fruchart J-C. Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolemia. J Med Genet. 1993;30:273-279.
25. Saint-Jore B, Loux N, Junien C, Boileau C. Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene. Hum Genet. 1993;91:511-512.
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;92:76-78.
28. Leitersdorf E, Tobin FJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest. 1990;85:1014-1023.
29. Leren TP, Solberg K, Rodningen OK, Tonstad S, Ose L. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis. 1994;111:175-182.
30. Motti C, Funke H, Rust S, Dergunov A, Assmann G. Using mutagenic polymerase chain reaction primers to detect carriers of familial defective apolipoprotein B-100. Clin Chem. 1991;37:1762-1766.
31. Rosatelli MC. Diagnosi molecolare delle β-talassemie. Biochim Clim. 1995;19:885-893.
32. Foglietta E, Deidda G, Graziani B, Modiano G, Bianco I. Detection of α-globin gene disorders by a simple PCR methodology. Haematologica. 1996;81:387-396.
33. Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal. J Lipid Res. 1990;31: 545-548.
34. Lombardi P, Sijbrands EJG, van de Giessen K, Smelt AHM, Kastelein JJP, Frants RR, Havekes LM. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res. 1995;36:860-867.
35. Sun XM Patel DD, Bhatnagar D, Knight BL, Soutar AK. Characterisation of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. Arterioscler Thromb Vasc Biol. 1995;15: 219-227.
36. Jensen HK, Jensen LG, Hansen PS, Faegerman O, Gregersen N. Two point mutations (313+1 G>A and 313+1 G>T) in the splice donor site of intron 3 of the low density lipoprotein receptor gene are associated with familial hypercholesterolemia. Hum Mutat. 1996;7:269-271.
37. Lind S, Eriksson M, Rystedt E, Wiklund O, Angelin B, Eggertsen G. Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolemia. J Intern Med. 1998;244:19-25.
38. Chae J, Kim SH, Hong SS, Park YB, Lee CC, Namkoong Y. The screening for small rearrangements and point mutations of the LDL receptor gene in the Korean patients with familial hypercholesterolemia. Am J Hum Genet. 1997;(suppl 61):A409. Abstract.
39. Cenarro A, Jensen HK, Casao E, Civeira F, Gonzales-Bonillo J, Rodriguez-Rey JC, Gregersen N, Pocovi M. Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Hum Mutat. 1998;11:413. Abstract.
40. Leren TP, Tonstad S, Gundersen KE, Bakken KS, Rodningen OK, Sundvold H, Ose L, Berg K. Molecular genetics of familial hypercholesterolemia in Norway. J Intern Med. 1997;241:185-194.
41. Bertolini S, Cassanelli R, Garuti M, Ghisellini M, Simone ML, Rolleri M, Mastruzo P, Calandra S. Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 1999;19:408-418.
42. Lukens JN. The thalassemias and related disorders: quantitative disorders of hemoglobin synthesis. In: Lee GR, Bithell TC, Foerster J, Athens JW, Lukens JN, eds. Wintrobe's Clinical Hematology. Philadelphia, Pa: Lea & Febiger; 1993:1102-1145.
43. Ho YK, Graham Smith R, Brown MS, Goldstein JL. Low-density lipoprotein (LDL) receptor activity in human acute myelogenous leukemia cells. Blood. 1978;52:1099-1114.
44. Davies PF, Kerr C. Modification of low density lipoprotein metabolism by growth factors in cultured vascular cells and human skin fibroblasts. Biochim Biophys Acta. 1982;712:26-32.
45. Chait A, Ross R, Bierman EL. Stimulation of receptor-dependent and receptor-independent pathways of low density lipoprotein degradation in arterial smooth muscle cells by platelet-derived growth factor. Biochim Biophys Acta. 1988;960:183-189.
46. Mazzone T, Basheeruddin K, Ping L, Frazer S, Getz GS. Mechanism of the growth-related activation of the low density lipoprotein receptor pathway. J Biol Chem. 1989;264:1787-1792.
47. Cuthbert JA, Lipsky PE. Mitogenic stimulation alters the regulation of LDL receptor gene expression in human lymphocytes. J Lipid Res. 1990;31:2067-2078.
48. Nicholson AC, Hajjar DP. Transforming growth factor-β up-regulates low density lipoprotein receptor-mediated cholesterol metabolism in vascular smooth muscle cells. J Biol Chem. 1992;267:25982-25987.
49. Hsu H-Y, Nicholson AC, Hajjar DP. Basic fibroblast growth factor-induced low density lipoprotein receptor transcription and surface expression. J Biol Chem. 1994;269:9213-9220.
50. Vitols S, Bjorkholm M, Gahrton G, Peterson C. Hypocholesterolemia in malignancy due to elevated low density lipoprotein receptor activity in tumor cells: evidence from studies in patients with leukemia. Lancet. 1985;2:1150-1154.
51. Vitols S, Angelin B, Ericsson S, Gahrton G, Juliusson G, Masquelier M, Paul C, Peterson C, Rudling M, Soderberg-Reid K, Tidefelt U. Uptake of low density lipoproteins by human leukemic cells in vivo: relation to plasma lipoprotein levels and possible relevance for selective chemotherapy. Proc Natl Acad Sci U S A. 1990;87:2598-2602.
52. Vitols S, Norgren S, Juliusson G, Tatidis L, Luthman H, Multilevel regulation of low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase gene expression in normal and leukemic cells. Blood. 1994;84:2689-2698.
53. Tatidis L, Gruber A, Vitols S. Decreased feedback regulation of low density lipoprotein receptor activity by sterols in leukemic cells from patients with acute myelogenous leukemia. J Lipid Res. 1997;38: 2436-2445.
54. Hardardottir I, Grunfeld C, Feingold KR. Effects of endotoxin and cytokines on lipid metabolism. Curr Opin Lipidol. 1994;5:207-215.
55. βb stimulate LDL receptor activity in HepG2 cells. Atherosclerosis. 1992;97:21-28.
56. Stopeck AT, Nicholson AC, Mancini FP, Hajiar DP. Cytokine regulation of low density lipoprotein receptor gene transcription in HepG2 cells. J Biol Chem. 1993;268:17489-17494.
57. Ettinger WH, Varma VK, Sorci-Thomas M, Parks JS, Sigmon RC, Smith TK, Verdery RB. Cytokines decrease apolipoprotein accumulation in medium from HepG2 cells. Arterioscler Thromb. 1994;14:8-13.
58. Yokoyama K, Ishibashi T, Yi-Quiang L, Nagayoshi A, Teramoto T, Maruyama Y. Interleukin-qβ and interleukin 6 increase levels of apolipoprotein B mRNA and decrease accumulation of its protein in culture medium of HepG2 cells. J Lipid Res. 1998;39:103-113.
59. Lombardi G, Matera R, Minervini MM, Casciavilla N. D'Arcangelo P, Carotenuto M, Di Giorgio G, Musto P. Serum levels of cytokines and soluble antigens in polytransfused patients with β-thalassemia major: relationship to immune status. Haematologica. 1994;79:406-412.