The relationship between the beta-2-adrenergic receptor gene +46 Arg 16/Gly variant and serum level of low density lipoprotein-cholesterol in Kazakans of Xinjiang / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the distribution of beta-2-AR +46 A-->G variant in Kazakans of Xinjiang and the relationship of the variant with low density lipoprotein-cholesterol (LDL-C) level in this population.</p><p><b>METHODS</b>The genotypes of beta-2-AR gene Arg16/Gly variant were detected by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique in 506 Kazakans with age from 30 to 69, and its distribution and relationship to LDL-C level were investigated.</p><p><b>RESULTS</b>(1) The frequencies of genotypes AA, AG, GG and alleles A, G of beta-2-AR +46 variant in this population were 0.310, 0.455, 0.235 and 0.538, 0.462 respectively, which were accorded with Hardy-Weinberg equilibrium. (2) The Gly16/Gly genotype had highest LDL-C level in the three genotypes, and were significantly higher than Arg16/Gly genotype (P < 0.05). (3) Comparing the effect of beta-2-AR gene +46 variant on serum lipid in males with females, we found that females with Gly16/Gly genotype had the highest level of serum LDL-C.</p><p><b>CONCLUSIONS</b>These data show that Gly16/Gly genotype of beta-2-AR gene +46 A-->G variant is associated with higher level of serum LDL-C in this population, especially in female.</p>

The relationship between the variants in 5' upstream core promoter A(-6)G and A(-20)C of angiotensinogen gene and essential hypertension in Kazakans of Xinjiang / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate whether the variants A(-6)G and A(-20)C of angiotensinogen (AGT) gene are involved in the pathogenesis of essential hypertension in Kazakans.</p><p><b>METHODS</b>T his case control study recruited 125 subjects with hypertension and 74 normotensive subjects from Kazakans of Xinjiang. Genomic DNA from leukocytes was analyzed for genetic variants A(-6)G and A(-20)C in 5' upstream core promoter of AGT gene by polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP), restriction fragment length polymorphism (RFLP) and automatic sequencing.</p><p><b>RESULTS</b>(1)There were only A(-6)G and A(-20)C variants in the -164 to +73 region of Kazakans' AGT gene. (2) The distributions of genotypes AA, AG, GG at locus -6 of AGT gene showed significant difference between the hypertensive group (0.39, 0.45, 0.16) and the normotensive group (0.49, 0.49, 0.02; Chi2=8.56, P=0.014). There were evident differences in the frequencies of the -6A and the -6G allele of the two groups (0.62, 0.38 and 0.73, 0.27; Chi2=5.35, P=0.021). (3) No significant difference was observed in the distribution of genotypes AA, AC, CC at locus -20 of AGT gene between the hypertensive group (0.69, 0.26, 0.05) and the normotensive group (0.65, 0.32, 0.03; Chi2=2.42, P=0.30). There was no distinct difference in the frequencies of the -20A allele and the -20C allele of the two groups (0.82, 0.18 and 0.82, 0.18; Chi2=0, P=0.99). (4) No significant difference was found at the levels of systolic and diastolic blood pressure between the groups corresponding to genotypes at the loci -6 and -20 of AGT gene.</p><p><b>CONCLUSION</b>The results suggest that the polymorphism of A(-6)G in 5' upstream core promoter of the AGT gene may be involved in the pathogenesis of essential hypertension in Kazakans, while the A(-20)C variant may not play an important role in the etiology of essential hypertension in Kazakans.</p>