Face morphology is strongly determined by genetic factors. However, only a small number of genes related to face morphology have been identified to date. Here, we performed a two-stage genome-wide association study (GWAS) of 85 face morphological traits in 7569 Koreans (5643 in the discovery set and 1926 in the replication set). In this study, we analyzed 85 facial traits, including facial angles. After discovery GWAS, 128 single nucleotide polymorphisms (SNPs) showing an association of P < 5 × 10− 6 were selected to determine the replication of the associations, and meta-analysis of discovery GWAS and the replication analysis resulted in five genome-wide significant loci. The OSR1-WDR35 [rs7567283, G allele, beta (se) = −0.536 (0.096), P = 2.75 × 10− 8] locus was associated with the facial frontal contour; the HOXD1-MTX2 [rs970797, A allele, beta (se) = 0.015 (0.003), P = 3.97 × 10− 9] and WDR27 [rs3736712, C allele, beta (se) = 0.293 (0.048), P = 8.44 × 10− 10] loci were associated with eye shape; and the SOX9 [rs2193054, C allele, beta (se) (ln-transformed) = −0.007 (0.001), P = 6.17 × 10− 17] and DHX35 [rs2206437, A allele, beta (se) = −0.283 (0.047), P = 1.61 × 10− 9] loci were associated with nose shape. WDR35 and SOX9 were related to known craniofacial malformations, i.e., cranioectodermal dysplasia 2 and campomelic dysplasia, respectively. In addition, we found three independent association signals in the SOX9 locus, and six known loci for nose size and shape were replicated in this study population. Interestingly, four SNPs within these five face morphology-related loci showed discrepancies in allele frequencies among ethnic groups. We identified five novel face morphology loci that were associated with facial frontal contour, nose shape, and eye shape. Our findings provide useful genetic information for the determination of face morphology.

This study was conducted to analyze the association between digestive symptoms and sleep disturbance, and to determine if any digestive symptoms are related to sleep disturbance. This was a cross-sectional study of 5792 subjects surveyed in a community-based cohort. Subjects provided information regarding the quality of sleep as assessed by the Pittsburgh Sleep Quality Index (PSQI), as well as digestive symptoms as assessed by the Gastrointestinal Symptom Rating Scale (GSRS). Logistic regressions were used to examine factors associated with sleep quality. The mean PSQI global score of the no sleep disturbances group (n = 4948) was 3.92 (SD = 2.14), while that of the sleep disturbance group (n = 844) was 11.18 (SD = 2.17). The association between digestive symptoms and sleep disturbance was evaluated by logistic regression after adjusting for cofounding factors. The results revealed that sleep disturbances were associated with digestive symptoms (aOR = 1.29, 95% CI = 1.22–1.36), especially abdominal pains (aOR = 1.63, 95% CI = 1.19–2.25), acid regurgitation (aOR = 1.48, 95% CI = 1.17–1.86), abdominal distension (aOR = 1.80, 95% CI = 1.42–2.28), and eructation (aOR = 1.59, 95% CI = 1.24–2.03). Digestive symptoms and sleep disturbances seem to be associated. These results will help medical professionals to effectively diagnose and manage patients with sleep disturbance. Furthermore, subsequent studies using comprehensive longitudinal data should be conducted to confirm the results of the present study.

Objectives This study used National Health Insurance claims data from Korea to report the prevalence of sleep disorders and treatment status, including traditional Korean medicine, in the last 10 years. Methods This is a retrospective cohort study in Korea. All diagnosis and prescription data, including herbal medicine claims, from the Health Insurance Review and Assessment Service from 2011 to 2020 were reviewed. Prevalence estimation, direct medical expenses and prescribed amounts for sleep disorders were recorded. Results The prevalence of sleep disorders increased from 3 867 975 (7.62%) in 2011 to 7 446 846 (14.41%) in 2020, nearly doubling over 10 years. Insomnia was observed in 91.44% (n=9 011 692) of the patients. The mean number of hospital visits per patient for sleep disorders was 11.5 (±26.62). Benzodiazepines are the most commonly prescribed medications for sleep disorders, and gamma-isoyosan is the most frequently prescribed herbal medicine. Conclusions Sleep disorders are continuously increasing, as is the use of medical services—personal and social medical expenses are also increasing accordingly. Sleep disorders should be recognised as a significant health problem that needs to be actively addressed to improve quality of life.

Abdominal obesity (AO) is a medical condition in which excess body fat accumulates in the abdomen. It may cause adverse effects on health and result in reduced life expectancy or increased health problems. While various genetic approaches have explained the risks of AO in Western society, the Sasang constitution (SC) has been identified as a risk factor in Korean medicine. Different SC types are associated with different fat distribution, body shapes and susceptibility to diseases. We evaluated whether the SC type could be a risk for AO in a cross-sectional study among Koreans.

Cold hypersensitivity in the hands and feet (CHHF) is a common symptom in Korea and patients with CHHF complain of coldness in the hands and feet in an environment that is not considered cold by unaffected people. In traditional East Asian medicine, CHHF is believed to be accompanied by various diseases and symptoms, and is considered a symptom that needs active treatment. CHHF is used for pattern identification in the cold pattern, yang deficiency, and constitution. This study aimed to examine the differences in frequencies of chronic diseases with respect to the presence of CHHF. Disease history, CHHF, body measurements, and blood test survey data from 6149 patients collected by 25 medical institutes in Korea were obtained from the Korean Medicine Data Center. The participants were divided into CHHF (n = 1909) and non-CHHF groups (n = 3017) according to the CHHF survey. The differences in frequencies of 18 diseases were analysed using chi-square tests, and the odds ratios (ORs) for each disease according to CHHF status were examined via logistic regression with adjustment for age, sex, and body mass index (BMI). Based on chi-square test results, the CHHF group showed a higher frequency of the following diseases: anaemia, hypotension, chronic gastritis, reflux oesophagitis, chronic rhinitis, dysmenorrhoea, and gastroduodenal ulcer. Diseases found in lower frequencies were as follows: hypertension, diabetes mellitus, impaired fasting glucose, dyslipidaemia, stroke, fatty liver, and angina pectoris. In addition, from the logistic regression with adjustment for age, sex, and BMI, the CHHF group showed a lower OR in diabetes mellitus and dyslipidaemia than the non-CHHF group, but a higher OR in degenerative arthritis, chronic gastritis, gastroduodenal ulcer, reflux oesophagitis, and chronic rhinitis. This study showed that CHHF is associated with chronic disease. Further large-scale prospective studies are needed to validate these associations.

Biobanks are more important in medical area because they can give researchers data for demonstrating and validating their research. In this study, we developed a biobank called the Korea Constitutional Multicenter Bank (KCMB) based on Sasang Constitutional Medicine (SCM). The aim of the KCMB was a foundation to providing the scientific basis of SCM. The KCMB has been constructed since 2006 in 24 Korean medical clinics with collection of questionnaire data, physical measurements and biological information comprised the results from blood test and DNA analyses. All participants were prescribed Sasang Constitution (SC)-specific herbal remedies for the treatment, and showed improvement of original symptoms as confirmed by Korean medicine doctor. Collected data went through de-identification process using the electronic case report form system. For calculation of several SC type specific tendencies, we used the direct standardization and Chi-square tests. The KCMB collected clinical information from 3,711 study participants (1,353 men and 2,358 women) aged more than 10 years. The mean age (± standard deviation) was 47.1 (±16.6) and 47.7 (±15.8) years for men and women respectively. After applying the direct standardization, the estimated constitutional distributions for the SC types were as follows: 39.2% for Tae-eumin(TE), 27.1% for Soeumin(SE), 33.7% for Soyangyin(SY), and non-zero but below 0.1% for Taeyangyin(TY). The estimated distribution of TE was about 10% less, while that of SY and SE were slightly more than the distribution reported by Jema Lee established the SCM. Based on the participants’ medical history within the KCMB, each SC type had notably different frequencies for some diseases such as hypertension, diabetes, hyperlipidemia, stroke, and obesity (P < 0.001). The KCMB may serve to verify and validate SCM theories and practices. It may also provide new insights into SCM mechanisms. The results from many studies using the KCMB data are of great importance and value for making decisions in healthcare policy and developing novel therapies.