About a quarter of the world ’s population suffers from varying degrees of anemia, especially children, adolescents and women. Iron is an essential trace element. Iron deficiency anemia caused by its deficiency is the most common type of anemia, accounting for about half of the total anemia population. It is one of the serious worldwide public health problems that threaten human health and quality of life. Recently, Human Molecular Genetics, a well-known international journal of genetics, published online the research team of Wang Fuwei from the Institute of Nutritional Sciences, Chinese Academy of Sciences, Shanghai Institute of Biological Sciences, and Zhang Jian's research group from the Chinese Center for Disease Control and Prevention, China. Research results of anemia risk gene loci.
Dr. An Peng, a doctoral student under the guidance of researcher Wang Fuwei, studied 2139 middle-aged and elderly anaemia women in Shaanxi (Han), Jiangsu (Han) and Guangxi Zhuang Autonomous Region (Zhuang), and analyzed the genes of multiple proteins involved in iron metabolism. Correlation between morphology and blood iron metabolism indexes and iron deficiency anemia. The results showed that polymorphisms of transferrin (TF), transferrin receptor 2 (TRF2) and TMPRSS6 genes were significantly correlated with human blood iron metabolism indicators, but only the polymorphism sites of TMPRSS6 gene were associated with Han and Zhuang nationalities in China There was a significant association between iron deficiency anemia in elderly women (OR values ​​were 1.87 and 1.56, respectively). The membrane-bound serine protease matriptase-2 encoded by TMPRSS6 gene affects the expression and secretion of the hormone Hepcidin; Hepcidin is a key molecule that regulates the absorption of iron ions by the iron pump protein Fpn1 (commonly known as iron pump) of small intestinal epithelial cells. It is speculated that the polymorphism of the TMPRSS6 gene may reduce iron absorption in the small intestine, thereby increasing the risk of iron deficiency or iron deficiency anemia.
This study analyzed the susceptibility genes of iron deficiency anemia for the first time in the world. According to the regional and ethnic representative characteristics of the study population, it is speculated that the TMPRSS6 gene may also be a susceptibility gene for iron deficiency anemia in other races, including whites. In addition, the study also found that more than one-third of rural Chinese middle-aged and elderly women with normal hemoglobin levels suffer from iron deficiency, warning the severity of iron deficiency in the Chinese population and the urgency of improving iron nutritional status of residents.
This project was funded by the Ministry of Science and Technology, the National Natural Science Foundation of China, the Chinese Academy of Sciences and the Shanghai Municipal Science and Technology Commission.
TMPRSS6 gene polymorphism regulates iron homeostasis metabolism pattern
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