ABSTRACT
<p><b>OBJECTIVE</b>To explore the relationship between genetic polymorphisms of 3 single nucleotide polymorphisms (SNPs) in the elastin microfibril interfacer 1 (EMILIN1) gene and essential hypertension.</p><p><b>METHODS</b>A case-control study was conducted in which 201 hypertensive patients and 202 healthy controls in Mongolian population were enrolled, and the genotypes of rs3754734, rs2011616 and rs2304682 loci were analyzed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing techniques.</p><p><b>RESULTS</b>There were significant differences in the frequencies of alleles and genotypes for the rs2304682 between the hypertensives and normotensives in the population (P<0.05). The frequency of the G-G haplotype established by rs3754734 and rs2304682 was significantly higher in the hypertensive patients (P<0.05). The frequencies of alleles and genotypes for the rs2304682 also had significant differences between the group with high diastolic blood pressure and normal diasto lic blood pressure (P<0.05).There were no significant differences in the frequencies of alleles and genotypes for the 3 SNPs between the group with high systolic blood pressure and normal systolic blood pressure (P>0.05).</p><p><b>CONCLUSION</b>The rs2304682 locus in the EMILIN1 gene, as well as the haplotypes G-G constructed using rs3754734 and rs2304682, may associate with the susceptibility of essential hypertension in the Mongolian population. Also, rs2304682 may associate with the level of the diastolic blood pressure.</p>