Globally, the incidence of diabetes has grown rapidly. The prevalence of diabetes in China was 11.6% in 2010. Diabetes has become a huge challenge for public health. The cause of diabetes is not yet completely clear. Potential risk factors include genetic factors, environmental factors, and interactions between the two. Genome-wide association studies have found a series of genetic variants that are closely related to diabetes. Several environmental factors, such as excessive energy intake and lack of physical activity, have been associated with increased risk of diabetes. In the meanwhile, genetic and environmental factors could modify each other’s effect on diabetes risk. With the advent of molecular techniques, post-genomics research, gut microbiota, and trans-omics have provided novel perspectives for the study of diabetes risk factors.
Leber’s hereditary optic neuropathy (LHON) is a paradigm maternal hereditary eye disease, mainly involving the retinal and macular fibers of the optic disc in the anterior ethmoid plate of the sclera. LHON has the characteristics of sex bias among males and incomplete penetrance. Primary mitochondrial DNA mutations m.11778G>A, m. 14484T>C, m.3460G>A are the molecular basis of LHON. However, other risk factors, such as secondary mitochondrial DNA mutations, mitochondrial haplotypes, nuclear modification genes, estrogen, vitamin B12 and environmental factors, work together to affect its phenotypic expression. The clinical diagnosis of LHON mainly limited to the detection of the primary mutation site of mitochondrial DNA. Therefore, comprehensive analysis of multiple risk factors of LHON will facilitate to construct multi-dimensional model of prevention, diagnosis and treatment system, which provide accurate and individualized medical services for patients. These may alleviate the incidence in LHON families. It also provides new ideas and different angles for the in-depth study of the pathogenesis of LHON.