title: Genome-wide association study on susceptibility genes associated with yang-deficiency constitution: A small sample case-control study.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Science and Technology, Anhui University of Chinese Medicine, Hefei, 230038, China.
authors.forename: Shi-lin
authors.initials: SL
authors.lastname: Yao
authors.forename: Qi
authors.initials: Q
authors.lastname: Wang
authors.forename: Zu-zhi
authors.initials: ZZ
authors.lastname: Zhang
authors.forename: Jun-xia
authors.initials: JX
authors.lastname: Wu
authors.forename: Nan
authors.initials: N
authors.lastname: Cheng
authors.forename: Xia
authors.initials: X
authors.lastname: Xu
authors.forename: Guang-yan
authors.initials: GY
authors.lastname: Xie
authors.forename: Jian
authors.initials: J
authors.lastname: Cao
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D016711:Yang Deficiency / Q000235:genetics*; D055815:Young Adult