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Genome-wide association study on susceptibility genes associated with yang-deficiency constitution: A small sample case-control study

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Abstract

Objective

To explore susceptibility genes associated with yang-deficiency constitution using single nucleotide polymorphism (SNP) genotyping.

Methods

Based on an epidemiological survey, 30 volunteers with yang-deficiency constitution and 30 volunteers with a balanced constitution were included according to the Classification and Determination Standards of Constitutions in Traditional Chinese Medicine. Peripheral blood was collected and DNA was extracted from white blood cells. A genome-wide association study (GWAS) was conducted by SNP 6.0 genotyping at the Beijing CapitalBio Corporation Ltd. A minimum association P-value (Fisher’s exact value) of less than 10-4 in the allele, genotype, dominant, and recessive models served as the standard for significant association of SNP with yang-deficiency constitution.

Results

Among the four genetic models, a total of 42 SNPs were significantly associated with yang-deficiency constitution (Fisher’s exact P-values P<10-4). These SNPs were adjacent to more than 20 genes, including RGS6, mGluR5, GAPDHL19, and IKZF1.

Conclusion

Yang-deficiency constitution exhibits the characteristics of polygenic inheritance. This pilot study suggests that the polymorphisms in RGS6, mGluR5, GAPDHL19, and IKZF1 are associated with changes in cyclic adenosine monophosphate and cyclic guanosine monophosphate levels, memory, metabolic energy status, and immune function, respectively in people with yang-deficiency constitution.

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Authors and Affiliations

  1. Department of Science and Technology, Anhui University of Chinese Medicine, Hefei, 230038, China

    Shi-lin Yao  (姚实林), Guang-yan Xie  (解光艳) & Jian Cao  (曹 健)

  2. College of Basic Medicine, Beijing University of Chinese Medicine, Beijing, 100029, China

    Qi Wang  (王 琦)

  3. College of Integrated Traditional Chinese and Western Medicine, Anhui University of Chinese Medicine, Hefei, 230038, China

    Zu-zhi Zhang  (张祖志)

  4. Institute of Neuropathy, Anhui University of Chinese Medicine, Hefei, 230061, China

    Jun-xia Wu  (吴君霞) & Nan Cheng  (程 楠)

  5. Clinical College of Traditional Chinese Medicine, Anhui University of Chinese Medicine, Hefei, 230038, China

    Xia Xu  (许 霞)

Authors
  1. Shi-lin Yao  (姚实林)
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  2. Qi Wang  (王 琦)
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  3. Zu-zhi Zhang  (张祖志)
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  4. Jun-xia Wu  (吴君霞)
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  5. Nan Cheng  (程 楠)
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  6. Xia Xu  (许 霞)
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  7. Guang-yan Xie  (解光艳)
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  8. Jian Cao  (曹 健)
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Corresponding author

Correspondence to Qi Wang  (王 琦).

Additional information

Supported by the National Natural Science Foundation of China (No. 81072715)

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Yao, Sl., Wang, Q., Zhang, Zz. et al. Genome-wide association study on susceptibility genes associated with yang-deficiency constitution: A small sample case-control study. Chin. J. Integr. Med. 21, 601–609 (2015). https://doi.org/10.1007/s11655-014-1957-5

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  • DOI: https://doi.org/10.1007/s11655-014-1957-5

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