Polymorphisms in PPARD,PPARG and APM1 associated with four types of Traditional Chinese Medicine constitutions

作     者：Yanrui Wu Yina Cun Jing Dong Jingru Shao Shengjun Luo Shengjie Nie Haijing Yu Bingrong Zheng Qi Wang Chunjie Xiao 

作者机构：Human Genetics Center of Yunnan University Kunming 650091 China The General Hospital of the Air Force Beijing 100036 China Center for Studies in Constitution Research of Traditional Chinese Medicine Beijing University of Chinese Medicine Beijing 100029 China 

出 版 物：《Journal of Genetics and Genomics》 (遗传学报（英文版）)

年 卷 期：2010年第37卷第6期

页      面：371-379页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 071007[理学-遗传学] 071002[理学-动物学] 

基　　金：supported by the National Basic Research Program of China (973 Program) (No. 2005CB523501) 

主　　题：Traditional Chinese Medicine constitution classification PPARD PPARG APM1 SNP 

摘      要：Based on the theory of constitution of Traditional Chinese Medicine （TCM）, the human population is divided into nine constitutions including one balanced constitution （Normality） and eight unbalanced constitutions （Yang-deficiency, Yin-deficiency, Phlegm-wetness, Qi-deficiency, Wetness-heat, Blood stasis, Depressed constitution, and Inherited special constitution）. Different constitutions have specific metabolic features and different susceptibility to certain diseases. However, whether a genetic basis accounts for such constitution classification is yet to be determined. Here we performed a genetic study to assess the association between genetic variations of metabolic genes including PPARD, PPARG and APM1 and the constitutions. A total of 233 individuals of the Han population in China were classified into four groups, Normality, Yang-deficiency, Yin-deficiency and Phlegm-wetness with whom 23 single nucleotide polymorphisms （SNPs） in the three genes were genotyped using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method. Biased distribution of PPARD rs2267669 and rs2076167, APM1 rs7627128 and rs1063539 in Yang-deficiency, PPARG Prol2Ala in Yin-deficiency and PPARD rs2076167, APMI rs266729 and rs7627128 in Phlegm-wetness were observed. The frequencies of Haplotypel3 （Hapl3） of PPARG in Yin-deficiency, Hap25 of APM1 in Yang-deficiency and Hap2 of PPARD and Hapl4 of PPARG in Phlegm-wetness, were significantly different from those in Normality, suggesting those might be group-associated haplotypes. These results suggested that single SNP and haplotypes ofPPARD, PPARG and APM1 may underlie the genetic basis of the constitutions classified in TCM.