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Objective To explore the genetic mechanism of Yang-deficiency constitution by detecting genomic copy number variations (CNVs). Methods Thirty cases of Yang-deficiency constitution and 30 cases of balanced constitution were included according to the standards of Classification and Determination of Constitution in Traditional Chinese Medicine. DNA was extracted from white blood cells in peripheral blood. A genome-wide association study was conducted by using Affymetrix SNP 6.0 platform. CNVs of each sample were analyzed using PennyCNV software. The Yang-deficiency constitution-specific copy number variation regions (CNVRs) of each autosome were identified. CNVR-related genes and their annotations were searched at online Human Genome Browser. Results The mean number of CNVs in balanced constitution group was 12.63±3.39, ranging from 8 to 20. After stepwise elimination of two Yang-deficiency constitution subjects, the mean number of CNVs in Yang-deficiency constitution group was 15.04±8.95, ranging from 2 to 38. A total of 26 CNVRs were identified from 28 Yang-deficiency constitution subjects, including 19 duplicated CNVRs, 6 deleted CNVRs, and 1 mixed type CNVR. Most CNVRs were shared by a few Yang-deficiency constitution subjects, and only 7 CNVRs were shared by more than 5 Yang-deficiency constitution subjects. The functions of representative genes in Yang-deficiency constitution-specific CNVRs were related with extracellular and intracellular signal transduction, metabolic regulation, and immune response, etc. Conclusion Yang-deficiency constitution subjects have some specific genomic CNVs, which might result in Yang-deficiency constitution phenotypes by influencing the expression of genes associated with extracellular and intracellular signal transduction, material metabolism (energy metabolism), and immune response, etc.
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To explore the analysis methods for composite traditional Chinese medicine (TCM) constitutions.
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To investigate the changes of endocrine, cyclic nucleotide and immune systems in subjects of yang deficiency constitution, and to explore the relationship among characteristics and causes of yang deficiency constitution, the physiological and biochemical parameters.
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Objective To explore the quality of life (QOL) of Qi-stagnation constitution. Methods Participants with Qi-stagnation constitution and without Qi-stagnation constitution were screened with standardized constitution questionnaire in traditional Chinese medicine on the basis of cross-sectional investigation, and their QOL were estimated with SF-36. A binomial logistic regression was carried out on the basis of Qi-stagnation constitution (0=no, 1=yes) as dependent variable and standardization scores of nine dimensions of SF-36 as independent variables. Results The dimensions of general health (GH), vitality (VT), role emotional (RE) and mental health (MH) of SF-36 entered into the regression equation. Conclusion Qi-stagnation constitution is associated with the composite indicator (VT, RE, MH) in aspects of psychological health of SF-36, mainly reflecting the disturbance of emotional state.