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The XbaI polymorphism at the apolipoprotein B locus and risk of atherosclerotic disease
Author(s) -
Behn M.,
Berg K.
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04206.x
Subject(s) - apolipoprotein b , allele , restriction fragment length polymorphism , locus (genetics) , medicine , biology , genetics , restriction enzyme , endocrinology , cholesterol , myocardial infarction , genotype , gene
A restriction fragment length polymorphism (RFLP) in DNA at the apolipoprotein B (apoB) locus detectable with the restriction enzyme XbaI involves the third base of threonin codon 2,488 (ACC ACT) (Priestley et al. 1985, Blackhart et al. 1986, Carlsson et al. 1986). The allele lacking the XbaI site (the X— allele) is associated with reduced levels of total cholesterol (TC), low density lipoprotein (LDL) apoB and possibly triglycerides (Law et al. 1986, Berg 1986, Paulweber et al. 1990, Peacock et al. 1992). Paradoxically, the same allele has been reported to be more common in survivors of myocardial infarction (MI), patients with coronary heart disease (CHD), and patients with peripheral arterial disease, than in controls. In 4 out of 11 studies reported in the literature, there was a statistically significant association between the X — allele and atherosclerotic disease, and a trend towards association was present in all but one of the remaining studies (Table 1).