The single nucleotide polymorphism-1131T>C in the apolipoprotein A5 (APOA5) gene is associated with elevated triglycerides in patients with hyperlipidemia

被引：74

作者：

Evans, D ^{[1
]}

Buchwald, A ^{[1
]}

Beil, FU ^{[1
]}

机构：

[1] Univ Klinikum Hamburg Eppendorf, Med Klin 1, Klin & Poliklin Innere Med, D-20246 Hamburg, Germany

来源：

JOURNAL OF MOLECULAR MEDICINE-JMM | 2003年 / 81卷 / 10期

关键词：

apolipoprotein A5; genes; lipids; polymorphisms;

D O I：

10.1007/s00109-003-0465-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The -1131T>C polymorphism in the newly identified apolipoprotein A5 (APOA5) gene has been associated with elevated plasma triglycerides. We determined its incidence in 915 patients attending a lipid outpatient clinic. The frequency of the C allele was significantly higher in patients with triglycerides above the 90th percentile and patients with type III hyperlipidemia compared to those with hypercholesterolemia. The C allele was associated with increased plasma triglycerides and decreased plasma HDL cholesterol, conditions associated with an increased risk of coronary heart disease. The effects on plasma lipids were only observed in overweight (BMI>25) patients and were greater in patients who were also carriers of a least one epsilon4 allele in the APOE gene. Thus additional genetic and/or metabolic factors are required in order for the triglyceride raising and HDL lowering effect of the -1131T>C polymorphism in APOA5 to be expressed.

引用

页码：645 / 654

页数：10

共 18 条

[1] Genetics of lipoprotein abnormalities associated with coronary heart disease susceptibility [J].

Breslow, JL .

ANNUAL REVIEW OF GENETICS, 2000, 34 :233-254

[2] Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren [J].

Endo, K ;

Yanagi, H ;

Araki, J ;

Hirano, C ;

Yamakawa-Kobayashi, K ;

Tomura, S .

HUMAN GENETICS, 2002, 111 (06) :570-572

[3]

FISHER RM, 1995, J LIPID RES, V36, P2104

[4] DIRECT DETECTION AND AUTOMATED SEQUENCING OF INDIVIDUAL ALLELES AFTER ELECTROPHORETIC STRAND SEPARATION - IDENTIFICATION OF A COMMON NONSENSE MUTATION IN EXON-9 OF THE HUMAN LIPOPROTEIN-LIPASE GENE [J].

HATA, A ;

ROBERTSON, M ;

EMI, M ;

LALOUEL, JM .

NUCLEIC ACIDS RESEARCH, 1990, 18 (18) :5407-5411

[5]

HIXSON JE, 1990, J LIPID RES, V31, P545

[6]

Hokanson J E, 1996, J Cardiovasc Risk, V3, P213, DOI 10.1097/00043798-199604000-00014

[7]

Mahley RW, 1999, J LIPID RES, V40, P1933

[8] A COMMON VARIANT IN THE GENE FOR LIPOPROTEIN-LIPASE (ASP9-]ASN) - FUNCTIONAL IMPLICATIONS AND PREVALENCE IN NORMAL AND HYPERLIPIDEMIC SUBJECTS [J].

MAILLY, F ;

TUGRUL, Y ;

REYMER, PWA ;

BRUIN, T ;

SEED, M ;

GROENEMEYER, BF ;

ASPLUNDCARLSON, A ;

VALLANCE, D ;

WINDER, AF ;

MILLER, GJ ;

KASTELEIN, JJP ;

HAMSTEN, A ;

OLIVECRONA, G ;

HUMPHRIES, SE ;

TALMUD, PJ .

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 1995, 15 (04) :468-478

[9] The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese [J].

Nabika, T ;

Nasreen, S ;

Kobayashi, S ;

Masuda, J .

ATHEROSCLEROSIS, 2002, 165 (02) :201-204

[10] Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels [J].

Pennacchio, LA ;

Olivier, M ;

Hubacek, JA ;

Krauss, RM ;

Rubin, EM ;

Cohen, JC .

HUMAN MOLECULAR GENETICS, 2002, 11 (24) :3031-3038

← 1 2 →

The single nucleotide polymorphism-1131T&gt;C in the apolipoprotein A5 (APOA5) gene is associated with elevated triglycerides in patients with hyperlipidemia

The single nucleotide polymorphism-1131T>C in the apolipoprotein A5 (APOA5) gene is associated with elevated triglycerides in patients with hyperlipidemia