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.

Background: Sasang constitutional medicine (SCM) is a unique form of traditional Korean medicine that divides human beings into four constitutional types (Tae-Yang: TY, Tae-Eum: TE, So-Yang: SY, and So-Eum: SE), which differ in inherited characteristics, such as external appearance, personality traits, susceptibility to particular diseases, drug responses, and equilibrium among internal organ functions. According to SCM, herbs that belong to a certain constitution cannot be used in patients with other constitutions; otherwise, this practice may result in no effect or in an adverse effect. Thus, the diagnosis of SC type is the most crucial step in SCM practice. The diagnosis, however, tends to be subjective due to a lack of quantitative standards for SC diagnosis.Methods: We have attempted to make the diagnosis method as objective as possible by basing it on an analysis of quantitative data from various Oriental medical clinics. Four individual diagnostic models were developed with multinomial logistic regression based on face, body shape, voice, and questionnaire responses. Inspired by SCM practitioners’ holistic diagnostic processes, an integrated diagnostic model was then proposed by combining the four individual models.Results: The diagnostic accuracies in the test set, after the four individual models had been integrated into a single model, improved to 64.0% and 55.2% in the male and female patient groups, respectively. Using a cut-off value for the integrated SC score, such as 1.6, the accuracies increased by 14.7% in male patients and by 4.6% in female patients, which showed that a higher integrated SC score corresponded to a higher diagnostic accuracy.Conclusions: This study represents the first trial of integrating the objectification of SC diagnosis based on quantitative data and SCM practitioners’ holistic diagnostic processes. Although the diagnostic accuracy was not great, it is noted that the proposed diagnostic model represents common rules among practitioners who have various points of view. Our results are expected to contribute as a desirable research guide for objective diagnosis in traditional medicine, as well as to contribute to the precise diagnosis of SC types in an objective manner in clinical practice.

Hypertension has been a crucial public health challenge among adults. This study aimed to develop a novel method for non-contact prediction of hypertension using facial characteristics such as facial features and facial color. The data of 1099 subjects (376 men and 723 women) analyzed in this study were obtained from the Korean Constitutional Multicenter Study of Korean medicine Data Center (KDC) at the Korea Institute of Oriental Medicine (KIOM). Facial images were collected and facial variables were extracted using image processing techniques. Analysis of covariance (ANCOVA) and Least Absolute Shrinkage and Selection Operator (LASSO) were performed to compare and identify the facial characteristic variables between the hypertension group and normal group. We found that the most distinct facial feature differences between hypertension patients and normal individuals were facial shape and nose shape for men in addition to eye shape and nose shape for women. In terms of facial colors, cheek color in men, as well as forehead and nose color in women, were the most distinct facial colors between the hypertension groups and normal individuals. Looking at the AUC value, the prediction power for women is better than men. In conclusion, we managed to explore and identify the facial characteristics variables related to hypertension. This study may provide new evidence in the validity of predicting hypertension using facial characteristics.

Modification of the Integrated Sasang Constitutional Diagnostic Model: In 2012, the Korea Institute of Oriental Medicine proposed an objective and comprehensive physical diagnostic model to address quantification problems in the existing Sasang constitutional diagnostic method. However, certain issues have been raised regarding a revision of the proposed diagnostic model. In this paper, we propose various methodological approaches to address the problems of the previous diagnostic model. Firstly, more useful variables are selected in each component. Secondly, the least absolute shrinkage and selection operator is used to reduce multicollinearity without the modification of explanatory variables. Thirdly, proportions of SC types and age are considered to construct individual diagnostic models and classify the training set and the test set for reflecting the characteristics of the entire dataset. Finally, an integrated model is constructed with explanatory variables of individual diagnosis models. The proposed integrated diagnostic model significantly improves the sensitivities for both the male SY type (36.4% 62.0%) and the female SE type (43.7% 64.5%), which were areas of limitation of the previous integrated diagnostic model. The ideas of these new algorithms are expected to contribute not only to the scientific development of Sasang constitutional medicine in Korea but also to that of other diagnostic methods for traditional medicine.

Background: The stability index estimation algorithm was derived and applied to develop and implement a balance ability diagnosis system that can be used in daily life. Methods: The system integrated an approach based on sensory function interaction, called the clinical test of sensory interaction with balance. A capacitance and resistance sensing type force mat was fabricated, and a stability index prediction algorithm was developed and applied using the center of pressure variables. The stability index prediction algorithm derived a center of pressure variable for 103 elderly people by Nintendo Wii Balance Board to predict the stability index of the balance system (Biodex SD), and the accuracy of this approach was confirmed. Results: As a result of testing with the test set, the linear regression model confirmed that the r-value ranged between 0.943 and 0.983. To confirm the similarity between the WBB and the flexible force mat, each measured center of pressure value was inputted and calculated in the developed regression model, and the result of the correlation coefficient validation confirmed an r-value of 0.96. Conclusion: The system developed in this study will be applicable to daily life in the home in the form of a floor mat.

The Wii balance board (WBB) is a simplified force plate system used to evaluate the balancing ability of the elderly via a sensory interaction task to confirm a significant standing balance index. The accuracy of this system has been verified in previous studies. In this study, an instrumented and modified clinical test of sensory interaction on balance (i-mCTSIB) was performed on 84 elderly subjects, and the variables for center of pressure (CoP) were calculated using WBB for each task condition. The results indicate that the visual condition has a significant effect on the sway proprioceptive sensory variables with a foam condition as their complexity increases. In addition, the correlation between the variable and Berg Balance Scale was not confirmed since CTSIB is a sensory interaction on balance ability. Therefore, WBB can be used to evaluate balancing ability based on sensory interactions consisting of the surface condition.