Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene

Journal of Human Genetics

Volumn 48, Issue 6, 2003, Pages 305-308

  Fujita, Yuko ^a   Ezura, Yoichi ^a   Emi, Mitsuru ^a   Ono, Shuji ^a   Takada, Daisuke ^a   Takahashi, Kaneo ^b   Uemura, Kouhei ^b   Iino, Yasuhiko ^a   Katayama, Yasuo ^a   Bujo, Hideaki ^c   Saito, Yasushi ^c  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b Awa Medical Association Hospital   (Japan)

^c CHIBA UNIVERSITY   (Japan)

Author keywords

HDL cholesterol (HDL C); Modifier gene; Plasma triglyceride (TG); Retinitis pigmentosa 1; Single nucleotide polymorphism (SNP)

Indexed keywords

ASPARAGINE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PROTEIN; RETINITIS PIGMENTOSA 1 PROTEIN; TYROSINE; UNCLASSIFIED DRUG; GENOMIC DNA; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; HYPERTRIGLYCERIDEMIA; LIPID METABOLISM; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; RANK SUM TEST; RP1 GENE; TRIACYLGLYCEROL BLOOD LEVEL; CHOLESTEROL BLOOD LEVEL; CODON; GENE LINKAGE DISEQUILIBRIUM; GENOTYPE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL; LIPOPROTEIN BLOOD LEVEL; MIDDLE AGED; MODIFIER GENE; PHENOTYPIC VARIATION; RETINITIS PIGMENTOSA 1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 10744220079     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0029-z     Document Type: Article

References (20)

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. Goldstein JL, Hobbs HH, Brown MS (1995) Familial hypercholesterolaemia. In: Scriver CT, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1981-2030
3. 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
4. Harada H, Nagai H, Tsuneizumi M, Mikami I, Sugano S, Emi M (2001) Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers. J Hum Genet 46:90-95
5. 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
6. Hegele RA (2001) Monogenic dislipidemias: window on determinants of plasma lipoprotein metabolism. Am J Hum Genet 69:1161-1177
7. 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
8. Lalouel JM, Rohrwasser A (2001) Development of genetic hypotheses in essential hypertension. J Hum Genet 46:299-306
9. Liu Q, Zhou J, Daiger SP, Farber DB, Heckenlively JR, Smith JE, Sullivan LS, Zuo J, Milam AH, Pierce EA (2002) Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. IVOS 43:22-32
10. Matsuzawa Y (1995) Significance of hyperglycemia in the occurrence of ischemic heart disease. J Atheroscler Thromb 2:S26-28
11. Nakazawa I, Nakajima T, Harada H, Ishigami T, Umemura S, Emi M (2001) Human calcitonin receptor-like receptor for adrenomedullin: genomic structure, eight single-nucleotide polymorphisms, and haplotype analysis. J Hum Genet 46:132-136
12. Norioka M, Suzuki M, Ryomoto K, Ikebuchi M, Harano Y (2000) Effect of bezafibrate treatment on the altered lipoprotein profiles in hypertriglyceridemic subjects. J Atheroscler Thromb 7:198-202
13. 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
14. Ota N, Nakajima T, Nakazawa I, Suzuki T, Hosoi T, Orimo H, Inoue S, Shirai Y, Emi M (2001) A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density. J Hum Genet 46:267-272
15. Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP (1999) Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet 22:248-254
16. Shastry B S (2002) SNP alleles in human disease and evolution. J Hum Genet 47:561-566
17. Shinohara Y, Ezura Y, Iwasaki H, Nakazawa I, Ishida R, Kodaira M, Kajita M, Shiba T, Emi M (2001) Linkage disequilibrium and haplotype analysis among ten single-nucleotide polymorphisms of interleukin 11 identified by sequencing of the gene. J Hum Genet 46:494-497
18. Sullivan LS, Heckenlively JR, Bowne SJ, Hide WA, Gal A, Denton M, Inglehearn CF, Blanton SH, Daiger SP (1999) Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet 22:255-259
19. 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 (in press).
20. Zannis VI, Breslow JL (1985) Genetic mutations affecting human lipoprotein metabolism. Adv Hum Genet, 14:125-215