From the Guidelines
Koreans are most prone to genetic diseases such as Kawasaki disease, which has been associated with several genetic variants, including FCGR2A, CASP3, HLA class II, BLK, IPTKC, and CD40, as identified in a study published in Circulation in 2017 1. These genetic predispositions result from the relatively homogeneous genetic background of the Korean population, which has experienced genetic founder effects and population bottlenecks throughout its history. Some key points to consider include:
- Genetic isolation has allowed certain mutations to become more concentrated within this ethnic group.
- For individuals of Korean descent, genetic screening may be beneficial, particularly for conditions like Kawasaki disease, especially when there is a family history of genetic disorders or when planning to have children.
- Understanding these genetic predispositions is important for healthcare providers treating Korean patients, as early detection and intervention can significantly improve outcomes for many of these conditions. Additionally, Koreans may also be at higher risk for other genetic diseases, such as those associated with the HLA-B*5801 haplotype, which is a strong risk factor for allopurinol-induced severe cutaneous adverse reactions (SCARs), as noted in a study published in the Annals of the Rheumatic Diseases in 2017 1. However, the most recent and highest quality study on this topic is the one published in Circulation in 2017 1, which provides the most relevant information on the genetic diseases that Koreans are most prone to. It is essential to prioritize the single most recent and highest quality study when making a definitive recommendation, and in this case, the study published in Circulation in 2017 1 takes precedence. Therefore, genetic screening for Kawasaki disease and other conditions associated with the identified genetic variants is crucial for individuals of Korean descent.
From the Research
Genetic Diseases in Koreans
- Wilson's disease is a genetic disorder that affects the Korean population, with a carrier frequency estimated to be around 1:44 to 1:53 2.
- The frequency of Wilson's disease in Koreans is estimated to be around 1 in 7,561 2.
- Gaucher disease is another genetic disorder that affects Koreans, although the prevalence rate is not specifically mentioned in the provided studies.
- Koreans may be prone to other genetic diseases, but there is limited information available in the provided studies.
Prevalence of Genetic Diseases
- Wilson's disease has a higher prevalence rate in Japan due to a higher consanguinity rate 3.
- The prevalence rate of Gaucher disease is around 1 in 30,000 worldwide, but the specific prevalence rate in Koreans is not mentioned in the provided studies 4.
- The carrier frequency of Wilson's disease in Koreans is estimated to be higher than previously reported based on clinical ascertainment 2.
Treatment Options
- Enzyme replacement therapy (ERT) is a treatment option for Gaucher disease, which is safe and effective in reducing hepatosplenomegaly and improving hematological parameters 5.
- ERT is not efficacious for patients with the acute neuronopathic form of Gaucher disease, but it can improve quality of life and longevity for patients with sub-acute neuronopathic forms 5.
- Oral options, including substrate reduction and/or pharmacological chaperone treatments, are being considered as alternative treatment options for Gaucher disease 5.