2022 Volume 49 Issue 2 Pages 255-262
This paper describes the present state and problems of genetic testing of monogenic and multifactorial disorders in genetic disorder. Hereditary breast and ovarian cancer syndrome (HBOC) is picked up as a sample of monogenic disorder.
Persons affected by HBOC have mutations in BRCA1/BRCA2 gene, therefore, persons who have mutations in those genes must be taken care of occurrence of HBOC. Persons who have the plural number of family history about breast or ovarian cancers had better recommended to genetic testing of BRCA1/2 gene.
Genome-wide association study (GWAS) and polygenic risk factor (PRS) study are developed rapidly but those studies about Japanese population are few for the present. Many genetic disorders are specific to populations. GWAS or PRS using Japanese population must increase from now on.
Alzheimer's disease is a multifactorial disorder and persons affected by this disease are increasing. APOE gene is one of causal genes. Many persons want to investigate this gene. We must inform the method to prevent Alzheimer's disease to persons who have mutations in APOE gene.
A PRS of coronary arterial diseases (CAD) indicates that the risk of occurrence of CAD is the same between persons who have high score of PRS and have desirable life style and persons who have low score of PRS and have undesirable life style.
Epigenome change is one cause of occurrence of genetic disorders. DNA methylation and histon modification change transcription of many genes. Many studies are necessary to clarify relation between epigenome change and life style.
Genetic disorders are very specific to individual and are difficult to understand. We must educate persons who receive health evaluation and promotion to realize genetic disorder with accuracy.
