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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

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Haplotype-based association of regulator of G-protein signaling 5 gene polymorphisms with essential hypertension and metabolic parameters in Chinese

Bing Xiao1, 2 / Yi Zhang1, 2, 5 / Wen-quan Niu1, 2 / Pin-jing Gao1–4, , , / Ding-liang Zhu1–3, 5, ,

1State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China

2Department of Cellular and Molecular Biology, Shanghai Institute of Hypertension, Shanghai, P.R. China

3Shanghai Key Laboratory of Vascular Biology, Shanghai, P.R. China

4Laboratory of Vascular Biology, Institute of Health Science Center, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, P.R. China

5Sino-French Research Center for Life Science and Genomics, Shanghai, P.R. China

Corresponding author: Prof. Ding-liang Zhu, Shanghai Institute of Hypertension, 197 Ruijin 2nd Road, Shanghai 200025, P.R. China Phone/Fax: +86 21 54654498,

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 47, Issue 12, Pages 1483–1488, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2009.344, October 2009

Publication History

Published Online:


Background: A recent genome-wide linkage study mapped blood pressure (BP)-related loci on human chromosome 1q and identified the regulator of G-protein signaling 5 (RGS5) as a candidate for regulation of BP. Thus, we assessed the relationship between RGS5 genetic polymorphisms and essential hypertension (EH) in Chinese.

Methods: A total of 906 patients with EH and 894 age- and gender-matched normotensive (NT) controls were enrolled. Sixteen single nucleotide polymorphisms (SNPs) in RGS5 were genotyped.

Results: There were no significant differences in the overall distributions of the genotypic and allelic frequencies for each SNPs between the two groups. However, in haplotype analysis, significant differences for the overall distributions were noted for four haplotypes constructed by five SNPs (rs12041294C/T, rs10917690A/G, rs10917695T/C, rs10917696T/C and rs2662774G/A), viz. H2 (C–A–C–T–A) (p=0.038), H5 (C–G–T–T–G) (p=0.001), H6 (T–G–C–T–A) (p=0.021) and H12 (T–A–T–T–G) (p=0.023). Serum concentrations of high- and low-density lipoprotein cholesterol showed significant associations with haplotypes revealed by a global test (p=0.0001 and 0.0309).

Conclusions: Multiple SNPs in combination in RGS5 may confer risk for hypertension. Our results also lend support for the effect of RGS5 SNPs on lipid metabolism. Further studies are warranted to find the causal SNPs in RGS5 for EH.

Clin Chem Lab Med 2009;47:1483–8.

Keywords: haplotypes; hypertension; polymorphism; RGS5

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