Polymorphisms of D17S1878 and D17S932 on the Chromosome 17 and risk of essential hypertension / 中华心血管病杂志

<p><b>OBJECTIVES</b>To identify the possible relationship between polymorphisms of D17S1878 and D17S932 on the Chromosome 17 and risk of essential hypertension (EH).</p><p><b>METHODS</b>The polymorphisms of D17S1878 and D17S932 were genotyped using Genetic Analyzer in 325 subjects from 67 Chinese families with EH in Liaoning province. The polymorphisms of D17S1878 and D17S932 sites were genotyped using Genetic Analyzer and GeneScan Software; PHASE2.1 Software was used in hyplotype analysis and affected sib pair analysis was used in linkage analysis.</p><p><b>RESULTS</b>61 hyplotypes were found in the study population with 272 hypertensive and 53 normotensive subjects and the frequency of haplotype H1 [(CA)(18)/(CA)(11)] in the hypertensive (15.4%) was significantly higher than that in the normotensive (6.3%, P < 0.05). Affected sib pair analysis could be applied in 180 subjects, the t values of the D17S1878 and D17S932 were 1.88 and 3.95, respectively (both P < 0.05) suggesting that the transitivity and consistency of the D17S1878 and D17S932 in sib pairs from the pedigrees were higher than expected (25%).</p><p><b>CONCLUSION</b>The polymorphisms of D17S1878 and D17S932 were possibly linked with predisposing genes of essential hypertension.</p>

Linkage analysis of the polymorphism at D17S1878 site with essential hypertension / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore the linkage of the polymorphism at D17S1878 site with susceptible gene of essential hypertension.</p><p><b>METHODS</b>Forty-five pedigrees from the high prevalence region of the hypertension were collected. The polymorphism of D17S1878 site was genotyped with genetic analyzer and gene-scan software. Discordant sib pair analysis and affected sib pair analysis were used in linkage analysis.</p><p><b>RESULTS</b>There were significant differences in the age, male, alcohol-consuming, over-salt intake, average systolic pressure, average diastolic pressure, waist-to-hip-ratio, total cholesterol, high-density lipoprotein, and low density lipoprotein between the hypertensive sib and the normotensive sib (P < 0.05). There were eleven alleles at D17S1878 site, and the allele frequency was significantly different between the hypertensive and normotensive sibs (P < 0.05). Forty-three pedigrees were analyzed with affected sib pair analysis (t = 3.05, P < 0.05).</p><p><b>CONCLUSION</b>The polymorphism of D17S1878 may be linked with susceptible genes of essential hypertension.</p>

Correlation analysis and identification of G421C in regulatory region of CYP4F2 gene with essential hypertension / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the correlation between G421C polymorphism in the regulatory region of CYP4F2 gene and essential hypertension and its molecular mechanism.</p><p><b>METHODS</b>Totally 196 hypertensive patients (hypertension group) and 219 normotensive subjects (control group) were genotyped by polymerase chain reaction-restriction fragment length polymorphism. The promoter activity with different alleles was evaluated by reporter assay. A Myb responsive element was identified using gel retardation assay.</p><p><b>RESULTS</b>Significant differences were found in distribution of genotype and allele frequency of G421C between hypertension group and control group (P < 0.05), and homozygous GG genotype was independently associated with hypertension after adjustment for age, gender, body mass index, and other risk factors (odds ratios 1.87, 95% CI 1.11-3.13, P < 0.05). 421G reporter construct showed decreased promoter activity compared with 421C reporter construct. 421G existed in Myb responsive element, whereas 421C damaged this motif.</p><p><b>CONCLUSION</b>G421C polymorphism in the regulatory region of CYP4F2 gene is correlated with essential hypertension. 421G allele inhibits transcription by binding affinity of Myb responsive element.</p>

Correlation analysis between WNK4 gene and essential hypertension / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate association of mutation in WNK4 gene with essential hypertension and to analyze the expression of WNK4 gene.</p><p><b>METHODS</b>cSNP in WNK4 gene in a small samples was detected by sequencing, then PCR-RFLP was performed in 98 patients with essential hypertension and 95 control subjects. The expression profile of WNK4 gene was tested by RT-PCR.</p><p><b>RESULTS</b>A cSNP was detected in WNK4 gene exon7 G1662A, and there were significant differences in the distribution of allele frequency of G1662A between essential hypertension group and control group. WNK4 gene were expressed in the tissues of kidney, brain, lung, heart, spleen and intestine of fetus.</p><p><b>CONCLUSION</b>WNK4 gene is well correlated with essential hypertension.</p>