A group led by Professor Minoru Osuga of the Department of Obstetrics and Gynecology, Graduate School of Medicine, the University of Tokyo, conducted a large-scale genome-wide association study (GWAS) using the genetic information of 11,348 people and the results of a WEB questionnaire on 22 female-specific constitutions. ), And found genetic regions strongly related to female-specific constitution such as bust size and menstrual pain.
First, it was revealed that different genotype combinations exist in the regions called CCDC6 on chromosome 170 and KCNU8 / ZNF1 on chromosome 703 in people with a large bust size and those with a small bust size.In particular, CCDC170 is an area that has been reported to be strongly associated with the risk of developing breast cancer.
It was also found that different genotype combinations were found in the genotypes of people with severe and mild menstrual pain in the gene regions called NGF on chromosome 1 and IL2A on chromosome 1. NGF is a well-known gene involved in nerve growth, and IL1A encodes a protein called an inflammatory cytokine that causes pain and inflammation, and promotes the production of prostaglandins, which are said to be the main cause of menstrual pain. It is known.Furthermore, it was revealed that in those who chose "fever" as a symptom during menstruation in the questionnaire, there was a characteristic genotype combination in the gene region called OPRM6 on chromosome 1.
Based on the results obtained from this result, further research will be carried out to clarify the whole picture of genetic factors and environmental factors, and it will be possible to make efforts to improve pain and fever during menstruation according to the individual constitution. It is expected to become.
Paper information:[Scientific Reports] Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-cod