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Common ALDH2 genetic variants predict development of hypertension in the SAPPHIRe prospective cohort: Gene-environmental interaction with alcohol consumption

Yi-Cheng Chang12, Yen-Feng Chiu3, I-Te Lee4, Low-Tone Ho567, Yi-Jen Hung8, Chao A Hsiung3, Thomas Quertermous9, Timothy Donlon10, Wei-Jei Lee11, Po-Chu Lee12, Che-Hong Chen13, Daria Mochly-Rosen13 and Lee-Ming Chuang114*

Author Affiliations

1 Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan

2 Genomics Research Center, Academia Sinica, Taipei, Taiwan

3 Division of Biostatistics and Bioinformatics, Institute of Population Health Sciences, National Health Research Institutes, Zhunan, Taiwan

4 Division of Endocrinology and Metabolism, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan

5 Department of Medical Research and Education, Taipei Veterans General Hospital, Taipei, Taiwan

6 Section of Endocrinology and Metabolism, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan

7 Faculty of Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan

8 Division of Endocrinology & Metabolism, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan

9 Division of Cardiovascular Medicine, Falk Cardiovascular Research Building, Stanford University School of Medicine, Stanford, CA, USA

10 Kuakini Medical Center, Honolulu, HI, USA

11 Department of Surgery, Min-Sheng Hospital, Taoyuan, Taiwan

12 Department of General Surgery, National Taiwan University Hospital, Taipei, Taiwan

13 Department of Chemical and Systems Biology, School of Medicine Stanford University, Stanford, CA, USA

14 Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan

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BMC Cardiovascular Disorders 2012, 12:58  doi:10.1186/1471-2261-12-58

Published: 29 July 2012



Genetic variants near/within the ALDH2 gene encoding the mitochondrial aldehyde dehydrogenase 2 have been associated with blood pressure and hypertension in several case–control association studies in East Asian populations.


Three common tag single nucleotide polymorphisms (tagSNP) in the ALDH2 gene were genotyped in 1,134 subjects of Chinese origin from the Stanford Asia-Pacific Program for Hypertension and Insulin Resistance (SAPPHIRe) family cohort. We examined whether the ALDH2 SNP genotypes predicted the development of hypertension in the prospective SAPPHIRe cohort.


Over an average follow-up period of 5.7 years, carriers homozygous for the rs2238152 T allele in the ALDH2 gene were more likely to progress to hypertension than were non-carriers (hazard ratio [HR], 2.88, 95% confidence interval [CI], 1.06-7.84, P = 0.03), corresponding to a population attributable risk of ~7.1%. The risk associated with the rs2238152 T allele were strongest in heavy/moderate alcohol drinkers and was reduced in non-drinkers, indicating an interaction between ALDH2 genetic variants and alcohol intake on the risk of hypertension (P for interaction = 0.04). The risk allele was associated with significantly lower ALDH2 gene expression levels in human adipose tissue.


ALDH2 genetic variants were associated with progression to hypertension in a prospective Chinese cohort. The association was modified by alcohol consumption.

ALDH2; Hypertension; SNP; Chinese