Relationship between cystathionine γ-lyase gene polymorphism and essential hypertension in Northern Chinese Han population

Yun Li, Qi Zhao, Xiao Li Liu, Lai Yuan Wang, Xiang Feng Lu, Hong Fang Li, Shu Feng Chen, Jian Feng Huang, Dong Feng Gu

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Background: Hydrogen sulfide (H2S) plays an important role in the smooth muscle cell relaxation and thereby participates in the development of hypertension. Cystathionine y-lyase is the key enzyme in the endogenous production of H2S. Up to now, the reports on the relationship between the polymorphisms of cystathionine y-lyase gene (CTH) and essential hypertension (EH) are limited. This study was designed to assess their underlying relationship. Methods: A total of 503 hypertensive patients and 490 age-, gender- and area-matched normotensive controls were enrolled in this study. Based on the FASTSNP, a web server to identify putative functional single nucleotide polymorphisms (SNPs) of genes, we selected two SNPs, rs482843 and rs1021737, in the CTH gene for genotyping. Genotyping was performed by the polymerase chain reaction and restriction fragment length polymorphism method (PCR-RFLP). The frequencies of the alleles and genotypes betwegn cases and controls were compared by the chi-square test. The program Haplo.stats was used to investigate the relationship between the haplotypes and EH. Results: These two SNPs were in Hardy-Weinberg Equilibrium in both cases and controls. The genotype distribution and allele frequencies of them did not significantly differ between cases and controls (all P>0.05). In the stepwise logistic regression analysis we failed to observe their association with hypertension. In addition, none of the four estimated haplotypes or diplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors. Conclusions: The present study suggests that the SNPs rs482843 and rs1021737 of the CTH gene were not associated with essential hypertension in the Northern Chinese Han population. However, replications in other populations and further functional studies are still necessary to clarify the role of the CTH gene in the pathogenesis of EH.

Original languageEnglish (US)
Pages (from-to)716-720
Number of pages5
JournalChinese Medical Journal
Volume121
Issue number8
StatePublished - Apr 20 2008

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Cystathionine
Lyases
Single Nucleotide Polymorphism
Population
Genes
Hypertension
Gene Frequency
Haplotypes
Genotype
Hydrogen Sulfide
Muscle Relaxation
Chi-Square Distribution
Restriction Fragment Length Polymorphisms
Smooth Muscle Myocytes
Logistic Models
Regression Analysis
Essential Hypertension
Polymerase Chain Reaction
Enzymes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Relationship between cystathionine γ-lyase gene polymorphism and essential hypertension in Northern Chinese Han population. / Li, Yun; Zhao, Qi; Liu, Xiao Li; Wang, Lai Yuan; Lu, Xiang Feng; Li, Hong Fang; Chen, Shu Feng; Huang, Jian Feng; Gu, Dong Feng.

In: Chinese Medical Journal, Vol. 121, No. 8, 20.04.2008, p. 716-720.

Research output: Contribution to journalArticle

Li, Y, Zhao, Q, Liu, XL, Wang, LY, Lu, XF, Li, HF, Chen, SF, Huang, JF & Gu, DF 2008, 'Relationship between cystathionine γ-lyase gene polymorphism and essential hypertension in Northern Chinese Han population', Chinese Medical Journal, vol. 121, no. 8, pp. 716-720.
Li, Yun ; Zhao, Qi ; Liu, Xiao Li ; Wang, Lai Yuan ; Lu, Xiang Feng ; Li, Hong Fang ; Chen, Shu Feng ; Huang, Jian Feng ; Gu, Dong Feng. / Relationship between cystathionine γ-lyase gene polymorphism and essential hypertension in Northern Chinese Han population. In: Chinese Medical Journal. 2008 ; Vol. 121, No. 8. pp. 716-720.
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T1 - Relationship between cystathionine γ-lyase gene polymorphism and essential hypertension in Northern Chinese Han population

AU - Li, Yun

AU - Zhao, Qi

AU - Liu, Xiao Li

AU - Wang, Lai Yuan

AU - Lu, Xiang Feng

AU - Li, Hong Fang

AU - Chen, Shu Feng

AU - Huang, Jian Feng

AU - Gu, Dong Feng

PY - 2008/4/20

Y1 - 2008/4/20

N2 - Background: Hydrogen sulfide (H2S) plays an important role in the smooth muscle cell relaxation and thereby participates in the development of hypertension. Cystathionine y-lyase is the key enzyme in the endogenous production of H2S. Up to now, the reports on the relationship between the polymorphisms of cystathionine y-lyase gene (CTH) and essential hypertension (EH) are limited. This study was designed to assess their underlying relationship. Methods: A total of 503 hypertensive patients and 490 age-, gender- and area-matched normotensive controls were enrolled in this study. Based on the FASTSNP, a web server to identify putative functional single nucleotide polymorphisms (SNPs) of genes, we selected two SNPs, rs482843 and rs1021737, in the CTH gene for genotyping. Genotyping was performed by the polymerase chain reaction and restriction fragment length polymorphism method (PCR-RFLP). The frequencies of the alleles and genotypes betwegn cases and controls were compared by the chi-square test. The program Haplo.stats was used to investigate the relationship between the haplotypes and EH. Results: These two SNPs were in Hardy-Weinberg Equilibrium in both cases and controls. The genotype distribution and allele frequencies of them did not significantly differ between cases and controls (all P>0.05). In the stepwise logistic regression analysis we failed to observe their association with hypertension. In addition, none of the four estimated haplotypes or diplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors. Conclusions: The present study suggests that the SNPs rs482843 and rs1021737 of the CTH gene were not associated with essential hypertension in the Northern Chinese Han population. However, replications in other populations and further functional studies are still necessary to clarify the role of the CTH gene in the pathogenesis of EH.

AB - Background: Hydrogen sulfide (H2S) plays an important role in the smooth muscle cell relaxation and thereby participates in the development of hypertension. Cystathionine y-lyase is the key enzyme in the endogenous production of H2S. Up to now, the reports on the relationship between the polymorphisms of cystathionine y-lyase gene (CTH) and essential hypertension (EH) are limited. This study was designed to assess their underlying relationship. Methods: A total of 503 hypertensive patients and 490 age-, gender- and area-matched normotensive controls were enrolled in this study. Based on the FASTSNP, a web server to identify putative functional single nucleotide polymorphisms (SNPs) of genes, we selected two SNPs, rs482843 and rs1021737, in the CTH gene for genotyping. Genotyping was performed by the polymerase chain reaction and restriction fragment length polymorphism method (PCR-RFLP). The frequencies of the alleles and genotypes betwegn cases and controls were compared by the chi-square test. The program Haplo.stats was used to investigate the relationship between the haplotypes and EH. Results: These two SNPs were in Hardy-Weinberg Equilibrium in both cases and controls. The genotype distribution and allele frequencies of them did not significantly differ between cases and controls (all P>0.05). In the stepwise logistic regression analysis we failed to observe their association with hypertension. In addition, none of the four estimated haplotypes or diplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors. Conclusions: The present study suggests that the SNPs rs482843 and rs1021737 of the CTH gene were not associated with essential hypertension in the Northern Chinese Han population. However, replications in other populations and further functional studies are still necessary to clarify the role of the CTH gene in the pathogenesis of EH.

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VL - 121

SP - 716

EP - 720

JO - Chinese Medical Journal

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