The C677T mutation in the methylenetetrahydrofolate reductase gene predisposes to hyperhomocysteinemia in children with familial hypercholesterolemia treated with cholestyramine

被引：28

作者：

Tonstad, S

Refsum, H

Ose, L

Ueland, PM

机构：

[1] Univ Oslo, Natl Hosp, Dept Med A, Lipid Clin, Oslo, Norway

[2] Univ Bergen, Dept Pharmacol, Bergen, Norway

来源：

JOURNAL OF PEDIATRICS | 1998年 / 132卷 / 02期

关键词：

D O I：

10.1016/S0022-3476(98)70465-2

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

In children with familial hypercholesterolemia, heterozygosity and homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase gene was associated with low serum folate and increased susceptibility to elevation of plasma total homocysteine during cholestyramine treatment. Because of the independent relationship between elevated plasma total homocysteine and cardiovascular disease, folate supplementation may be prudent in these children.

引用

页码：365 / 368

页数：4

共 14 条

[1] A QUANTITATIVE ASSESSMENT OF PLASMA HOMOCYSTEINE AS A RISK FACTOR FOR VASCULAR-DISEASE - PROBABLE BENEFITS OF INCREASING FOLIC-ACID INTAKES [J].

BOUSHEY, CJ ;

BERESFORD, SAA ;

OMENN, GS ;

MOTULSKY, AG .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1995, 274 (13) :1049-1057

[2]

FISKERSTRAND T, 1993, CLIN CHEM, V39, P263

[3] A CANDIDATE GENETIC RISK FACTOR FOR VASCULAR-DISEASE - A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE [J].

FROSST, P ;

BLOM, HJ ;

MILOS, R ;

GOYETTE, P ;

SHEPPARD, CA ;

MATTHEWS, RG ;

BOERS, GJH ;

DENHEIJER, M ;

KLUIJTMANS, LAJ ;

VANDENHEUVEL, LP ;

ROZEN, R .

NATURE GENETICS, 1995, 10 (01) :111-113

[4] Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (<= 40 mu mol/liter) - The Hordaland homocysteine study [J].

Guttormsen, AB ;

Ueland, PM ;

Nesthus, I ;

Nygard, O ;

Schneede, J ;

Vollset, SE ;

Refsum, H .

JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (09) :2174-2183

[5] Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations [J].

Jacques, PF ;

Bostom, AG ;

Williams, RR ;

Ellison, RC ;

Eckfeldt, JH ;

Rosenberg, IH ;

Selhub, J ;

Rozen, R .

CIRCULATION, 1996, 93 (01) :7-9

[6]

Motulsky AG, 1996, AM J HUM GENET, V58, P17

[7]

*NAT CHOL ED PROGR, 1992, PEDIATRICS, V89, P525

[8] TOTAL PLASMA HOMOCYSTEINE AND CARDIOVASCULAR RISK PROFILE - THE HORDALAND HOMOCYSTEINE STUDY [J].

NYGARD, O ;

VOLLSET, SE ;

REFSUM, H ;

STENSVOLD, I ;

TVERDAL, A ;

NORDREHAUG, JE ;

UELAND, PM ;

KVALE, G .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1995, 274 (19) :1526-1533

[9] Folate and cardiovascular disease - Why we need a trial now [J].

Stampfer, MJ ;

Rimm, EB .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1996, 275 (24) :1929-1930

[10] Relation of total homocysteine and lipid levels in children to premature cardiovascular death in male relatives [J].

Tonstad, S ;

Refsum, H ;

Sivertsen, M ;

Christophersen, B ;

Ose, L ;

Ueland, PM .

PEDIATRIC RESEARCH, 1996, 40 (01) :47-52

← 1 2 →