Study on the association of the polymorphism at the position -418A/G and -384C/T in the Apo(a) promoter / 中国病理生理杂志

ABSTRACT

AIM: To investigate two single nucleotide polymorphisms (SNP) in the apolipoprotein(a) promoter at positions -418 and -384 and to compare distributing difference of genotype frequencies of single nucleotide among different races and to explore the influencies of them on serum lipid level and their association with coronary heart disease (CHD). METHODS: Using PCR-RFLP (BsgI,BfaI) method, we determined genotypes of these two SNPs in 156 unrelated healthy controls of HanZu Chinese and 56 unrelated CHD patients of HanZu Chinese and 56 unrelated African Blacks, then cloned polymerase chain reaction (PCR) products into T-vector and sequenced it by M13 currency primer, correspondingly. RESULTS: (1) There was no polymorphism at position -418A/A and -384C/C in control group. Only one CHD patient′s genotype determined was -418G/G, other were -418A/A and (-384C/C) in CHD patients. (2) Only two African Blacks′ genotype determined was -418G/G, other were -418A/A and (-384C/C) in African Blacks. (3) However, the Apo(a) promoter sequence was in coincident with the sequence publicized in GenBank and the base at positions -418 was adenine (A) and -384 was cytosine (C). CONCLUSION: The mutation frequencies at position -418 and -384 are low in the Chinese Han Population of Hubei and perhaps no single nucleotide polymorphisms is at two positions. No association with serum lipid levels and CHD is observed. There may be great variabilities to the SNPs in the Apo(a) promoter among different races.