Association between Methylenetetrahydrofolate Reductase Gene Single Nucleotide Polymorphisms and Low-er Extremity Atherosclerotic Disease / 中国药师

ABSTRACT

Objective:To analyze the association between gene single nucleotide polymorphisms ( SNP) of methylenetetrahydrofo-late reductase ( MTHFR) gene and lower extremity atherosclerotic disease ( LEAD) . Methods:The clinical data and peripheral blood were collected from 384 participants (224 LEAD cases and 160 normal controls) from Han population of Minnan Fujian. LEAD was detected with ankle brachial index ( ABI) , toe brachial index ( TBI) , color Doppler ultrasonic examination and the other imaging stud-ies. The SNP genotypes including rs1801133, rs1801131, rs2274976, rs4846048, rs3737966, rs1537515, rs4846049, rs3834044, rs13306561 and rs3737964 in the MTHFR gene were detected by matrix-assisted laser desorption ionization-time of flight ( MALDI-TOF) . Results:The genotype distributions of the ten loci were in accordance with Hardy-Weinberg equilibrium. There were 37 obvi-ous linkage disequilibrium, including the association between rs4846048 and rs3737966 (D′>0. 9) and so on. There were significant differences (P=0. 02) in GCCTCGGAAT haplotypes of MTHFR gene groups between LEAD cases and the normal groups. The results from chi-square test of allele frequencies suggested rs1801131 (OR=1. 287),rs4846048 (OR=1. 844,P=0. 02), rs3737966(OR=1. 339),rs4846049 (OR=1. 314) and rs3737964 (OR=1. 522). Significant differences (P<0. 05) were observed between LEAD and the normal groups in Cochran- Armitage trend test and Dominant gene action test of rs4846048. Conclusion: The SNP of rs1801131,rs4846048,rs3737966,rs4846049 and rs3737964 might be associated with the susceptibility of LEAD,and rs4846048 gene mutation might serve as a risk factor for LEAD in the community-based population.