Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: Intrafamilial association study in an eight-generation hyperlipidemic kindred

Journal of Human Genetics

Volumn 49, Issue 1, 2004, Pages 29-34

  Sato, Keiko ^a,b   Emi, Mitsuru ^a,b   Ezura, Yoichi ^a   Fujita, Yuko ^a   Takada, Daisuke ^a   Ishigami, Tomoaki ^b   Umemura, Satoshi ^b   Xin, Yunpei ^c   Wu, Lily L ^c   Larrinaga Shum, Stacey ^c   Stephenson, Susan H ^c   Hunt, Steven C ^c   Hopkins, Paul N ^c  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

Author keywords

Familial hypercholesterolemia; Modifier gene; Single nucleotide polymorphism (SNP); Soluble epoxide hydrolase; Triglyceride

Indexed keywords

CHOLESTEROL; EPOXIDE; EPOXIDE HYDROLASE; TRIACYLGLYCEROL;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; CORONARY ARTERY DISEASE; CORRELATION ANALYSIS; DNA MODIFICATION; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERLIPIDEMIA; HYPERLIPOPROTEINEMIA TYPE 2; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL; UNITED STATES;

ALLELES; CHOLESTEROL; EPOXIDE HYDROLASES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRIGLYCERIDES; UTAH;

EID: 10744225519     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0103-6     Document Type: Article

References (27)

1. Cullen P, Funke H, Schulte H, Assmann G (1997) Lipoproteins and cardiovascular risk-from genetics to CHD prevention. J Atheroscler Thromb 4:51-58
2. Emi M, Hegele RM, Hopkins PN, Wu LL, Plaetke R, Williams RR, Lalouel JM (1991) Effects of three genetic loci in a pedigree with multiple lipoprotein phenotypes. J Arterioscler Thromb 11:1349-1355
3. Fujiwara H, Emi M, Nagai H, Nishimura T, Konishi N, Kubota Y, Ichikawa T, Takahashi S, Shuin T, Habuchi T, Ogawa O, Inoue K, Skolnick MH, Swensen J, Camp NJ, Tavtigian SV (2002) Association of common missense changes in ELAC2 (HPC2) with prostate cancer in a Japanese case-control series. J Hum Genet 47:641-648
4. Haga H, Yamada R, Ohnishi, Y, Nakamura Y, Tanaka T (2002) Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190, 562 genetic variations in the human genome. J Hum Genet 47:605-610
5. Haraki T, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H (1997) Clinical characteristics of double heterozygous with familial hypercholesterolemia and cholesteryl ester transfer protein deficiency. Atherosclerosis 132:229-236
6. Hattori H, Hirayama T, Nobe Y, Nagano M, Kujiraoka T, Egashira T, Ishii J, Tsuji M, Emi M (2002) Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan. J Hum Genet 47:80-87
7. Hegele RA (2001) Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism. Am J Hum Genet 69:1161-1177
8. Hollenberg AN, Susulic VS, Madura JP, Zhang B, Moller DE, Tontonoz P, Sarraf P, Spiegelman BM, Lowell BB (1997) Functional antagonism between CCAAT/enhancer binding protein-alpha and peroxisome proliferator-activated receptor-gamma on the leptin promoter. J Biol Chem 272:5283-5290
9. Hopkins PN, Wu LL, Schumacher MC, Emi M, Hegele RM, Hunt SC, Lalouel JM, Williams RR (1991) Type III dyslipoproteinemia in patients heterozygous for familial hypercholesterolemia and apolipoprotein E2 Evidence for a gene-gene interaction. Arterioscler Thromb 11:1137-1146
10. Iida A, Saito S, Sekine A, Mishima C, Kitamura Y, Kondo K, Harigae S, Osawa S, Nakamura Y (2002) Catalog of 77 single-nucleotide polymorphisms (SNPs) in the carbohydrate sulfotransferase 1 (CHST1) and carbohydrate sulfotransferase 3 (CHST3) genes. J Hum Genet 47:14-19
11. Ishii J, Nagano M, Kujiraoka T, Ishihara M, Egashira T, Takada D, Tsuji M, Hattori H, Emi M (2002) Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. J Hum Genet 47:366-369
12. Kurokawa M, Hirano T, Furukawa S, Nagano S, Adachi M (1995) Similar to oleic acid, eicosapentaenoic acid stimulates apolipoprotein B secretion by inhibiting its intracellular degradation in Hep G2 cells. Atherosclerosis 112:59-68
13. Lalouel JM, Rohrwasser A (2001) Development of genetic hypotheses in essential hypertension. J Hum Genet 46:299-306
14. Lundahl B, Leren TP, Ose L, Hamsen A, Karpe F (2000) A functional polymorphism in the promoter region of the microsomal triglyceride transfer protein (MTP-493G/T) influences lipoprotein phenotype in familial hypercholesterolemia. Atheroscler Thromb Vasc Biol 20:1784-1788
15. Mabuchi H, Koizumi J, Shimizu M, Takeda R (1989) Development of coronary heart disease in familial hypercholesterolemia. Circulation 79:225-232
16. Matsuzawa Y (1995) Significance of hyperglycemia in the occurrence of ischemic heart disease. J Atheroscler Thromb 2:S26-28
17. Nakazawa I, Nakajima T, Ishigami T, Umemura S, Emi M (2001) Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA) gene. J Hum Genet 46:367-371.
18. Ohnishi Y, Tanaka T, Ozaki K, Yamada R, Suzuki, H, Nakamura Y (2001) A high-throughput SNP typing system for genome-wide association studies. J Hum Genet 46:471-477
19. Pimstone SN, Gagne SE, Gagne C, Lupien PJ, Gaudet D, Williams RR, Kotze M, Reymer PW, Defesche JC, Kastelen JJ (1995) Mutations in the gene for lipoprotein lipase A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 15:1704-1712
20. Rosen ED, Sarraf P, Troy AE, Bradwin G, Moore K, Milstone DS, Spiegelman BM, Mortensen RM (1999) PPAR gamma is required for the differentiation of adipose tissue in vivo and in vitro. Mol Cell 4:611-617
21. Rustan AC, Nossen JO, Christiansen EN, Drevon CA (1988) Eicosapentaenoic acid reduces hepatic synthesis and secretion of triacylglycerol by decreasing the activity of acyl-coenzyme A: 1,2-diacylglycerol acyltransferase. J Lipid Res 29:1417-1426
22. Saito S, Iida A, Sekine A, Miura Y, Ogawa C, Kawauchi S, Higuchi S, Nakamura Y (2002) Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR) J Hum Genet 47:147-171
23. Shastry BS (2002) Minireview: SNP alleles in human disease and evolution. J Hum Genet 47:561-566
24. Takada D, Emi M, Ezura Y, Nobe Y, Kawamura K, Iino Y, Katayama Y, Xin Y, Wu LL, Shum SL, Stephenson SH, Hunt SC, Hopkins PN (2002) Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred. J Hum Genet 47:656-664
25. Wang H, Chen X, Fisher EA (1993) N-3 fatty acids stimulate intracellular degradation of apolipoprotein B in rat hepatocytes. J Clin Invest 91:1380-1389
26. Wittekoek ME, Pimstone SN, Reymer PW, Feuth L, Botma GJ, Defesche JC, Prins M, Hayden MR, Kastelein JJ (1998) A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia. Circulation 97:729-735
27. 2-terminal kinase 3 (JNK3) genes: genomic structure and seven polymorphisms of the FAP-1 gene. J Hum Genet 47:614-619