IngentaConnect T393C polymorphism of GNAS1 associated with the autonomic nervous...

Authors: Koichiro Yasuda; Tetsuro Matsunaga; Toshio Moritani¹; Mariko Nishikino²; Ning Gu³; Mariko Yoshinaga³; Kae Nagasumi³; Tsubasa Yamamura³; Norihiko Aoki²; Kinsuke Tsuda³

Source: Clinical and Experimental Pharmacology and Physiology, Volume 31, Number 9, September 2004 , pp. 597-601(5)

Publisher: Blackwell Publishing

Abstract:

Summary

1. T393C polymorphism of the gene encoding the G_s-protein agr

-subunit (GNAS1) has been reported recently to be associated with hypertension in which dysfunctions of the autonomic nervous system (ANS) are closely involved. In the present study, the association of this polymorphism with ANS activity was investigated in young, healthy Japanese males.

2. Four hundred and one subjects were genotyped for the T393C polymorphism of GNAS1 by polymerase chain reaction–restriction fragment length polymorphism. Autonomic nervous system activity during supine rest and when standing was assessed in 137 subjects by electrocardiogram R-R interval power spectral analysis.

3. One hundred and fifty-four subjects (38.4%) were homozygous for the T allele (TT), 188 (46.9%) were heterozygous (TC) and 59 (14.7%) were homozygous for the C allele (CC). There were no significant differences as to genotype among the clinical characteristics investigated. In power spectral analysis of heart rate variability, the high-frequency component and parasympathetic nervous system (PNS) index during supine rest were significantly lower in TT and TC carriers than in CC carriers. Furthermore, the increase in heart rate and the responsiveness of sympathetic nervous system index and PNS index to postural change from supine rest to standing were significantly lower in TT and TC carriers than in CC carriers.

4. These observations suggest that the GNAS1 T393C polymorphism is associated with ANS activity in youth, so that it may be useful as a genetic marker for future pathogenesis of hypertension. Follow-up studies are necessary to clarify the prevalence rates of hypertension among 393T allele carriers in the present study.

Keywords: GNAS1; heart rate variability; parasympathetic nervous system; polymorphism; power spectral analysis; sympathetic nervous system

Document Type: Research article

DOI: 10.1111/j.1440-1681.2004.04059.x

Affiliations: 1: The Laboratory of Applied Physiology, Graduate School of Human and Environmental Studies, Kyoto University, Kyoto, Japan 2: Department of Endocrinology, Metabolism and Diabetes Mellitus, Kinki University School of Medicine, Osaka, 3: The Laboratory of Metabolism and

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T393C polymorphism of GNAS1 associated with the autonomic nervous system in young, healthy Japanese subjects