Chaum Life Center, CHA University, Seoul, Republic of Korea.
John Eight Constitution Medical Clinic, Seoul, Republic of Korea.
Physiol Rep. 2022 Sep;10(17):e15459. doi: 10.14814/phy2.15459.
Eight Constitution Medicine (ECM), a ramification of traditional Korean medicine, has categorized people into eight constitutions. The main criteria of classification are inherited differences or predominance in the functions of organs, such as the liver or lung, diagnosed through ECM-specific pulse patterns. This study investigated the association between single nucleotide polymorphism (SNP) genotypes and ECM phenotypes and explored candidate genetic makeups responsible for each constitution using a genome-wide association study (GWAS). Sixty-three healthy volunteers, who were either categorized as the Hepatonia (HEP, n = 32) or Pulmotonia (PUL, n = 31) constitution, were enrolled. HEP and PUL are two contrasting ECM types representing the dominant liver and lung phenotypes, respectively. SNPs were analyzed from the oral mucosa DNA using a commercially available microarray chip that can identify 820,000 SNPs. We conducted GWAS using logistic regression analysis and additive mode genotypes and constructed phylogenetic trees using the SNPhylo program with 8 SNPs specific for the liver phenotype and 15 SNPs for the lung phenotype. Although genome-wide significant SNPs were not found, the phylogenetic tree showed a clear difference between the two constitutions. This is the first observation suggesting genetic involvement in the ECM and can be extended to all ECM constitutions.
八纲医学（ECM）是一种韩国传统医学的分支，将人分为八种体质。分类的主要标准是通过 ECM 特有的脉象诊断出的器官（如肝脏或肺部）功能的遗传差异或优势。本研究使用全基因组关联研究（GWAS）调查了单核苷酸多态性（SNP）基因型与 ECM 表型之间的关联，并探索了每种体质的候选遗传构成。招募了 63 名健康志愿者，他们被分为肝胆型（HEP，n=32）或肺胃型（PUL，n=31）。HEP 和 PUL 是两种相反的 ECM 类型，分别代表主导的肝脏和肺部表型。使用市售的微阵列芯片从口腔黏膜 DNA 中分析 SNPs，该芯片可以识别 82 万个 SNPs。我们使用逻辑回归分析和加性模式基因型进行 GWAS，并使用 SNPhylo 程序构建了具有 8 个肝脏表型特异性 SNP 和 15 个肺表型特异性 SNP 的系统发育树。尽管没有发现全基因组显著的 SNP，但系统发育树显示了两种体质之间的明显差异。这是首次观察到 ECM 中存在遗传参与，并且可以扩展到所有 ECM 体质。
