Prediction and association analyses of skin phenotypes in Japanese females using genetic, environmental, and physical features.

BACKGROUND: Skin characteristics show great variation from person to person and are affected by multiple factors, including genetic, environmental, and physical factors, but details of the involvement and contributions of these factors remain unclear. OBJECTIVES: We aimed to characterize genetic, environmental, and physical factors affecting 16 skin features by developing models to predict personal skin characteristics. METHODS: We analyzed the associations of skin phenotypes with genetic, environmental, and physical features in 1472 Japanese females aged 20-80 years. We focused on 16 skin characteristics, including melanin, brightness/lightness, yellowness, pigmented spots, wrinkles, resilience, moisture, barrier function, texture, and sebum amount. As genetic factors, we selected 74 single-nucleotide polymorphisms of genes related to skin color, vitamin level, hormones, circulation, extracellular matrix (ECM) components and ECM-degrading enzymes, inflammation, and antioxidants. Histories of ultraviolet (UV) exposure and smoking as environmental factors and age, height, and weight as physical factors were acquired by means of a questionnaire. RESULTS: A linear association with age was prominent for increase in the area of crow's feet, increase in number of pigmented spots, decrease in forehead sebum, and increase in VISIA wrinkle parameters. Associations were analyzed by constructing linear regression models for skin feature changes and logistic regression models to predict whether subjects show lower or higher skin measurement values in the same age groups. Multiple genetic factors, history of UV exposure and smoking, and body mass index were statistically selected for each skin characteristic. The most important association found for skin spots, such as lentigines and wrinkles, was adolescent sun exposure. CONCLUSION: Genetic, environmental, and physical factors associated with interindividual differences of the selected skin features were identified. The developed models should be useful to predict the skin characteristics of individuals and their age-related changes.

Performance of Near-Infrared Spectroscopy in Detecting Acute Tourniquet-Induced Upper-Extremity Ischemia Across Different Skin Phenotypes.

PURPOSE: Diagnosing acute tissue ischemia is challenging, particularly in patients with higher skin melanin content. We investigated whether near-infrared spectroscopy (NIRS) is effective and consistent in detecting upper extremity ischemia across various skin phenotypes. METHODS: Volunteers underwent tourniquet-induced upper extremity ischemia. Skin color was evaluated by the Fitzpatrick scale (FP, range: I-VI) and the Von Luschan scale (vL, range: 1-36). A NIRS probe was placed on one finger. The tourniquet was inflated to 250 mmHg and perfusion was restricted for 7 minutes, followed by a 10-minute monitored reperfusion period. The percent tissue oxygenation (StO2) was recorded. RESULTS: A total of 55 volunteers were enrolled (22 self-identified as Caucasian, 21 African American, 7 Asian, 2 Latinx, and 2 Biracial). Average starting and ending StO2 for the cohort was 72.2% and 45.9%, respectively. However, there was variability based on skin melanin content. Increasing vL correlated with lower starting StO2, smaller StO2 decrease, and shorter time to reach ischemic steady state. High skin melanin (FP scale IV-VI) was associated with significantly lower starting StO2 (-7.1%) and shorter time to reach ischemic steady state (-0.3 mins). African Americans had lower starting StO2 (-8.6%) and 7.8% lesser total StO2 decrease than other groups. CONCLUSIONS: NIRS can rapidly detect acute onset tissue ischemia in the upper extremity. However, given the lower starting StO2 and smaller total StO2 decrease after tourniquet-induced ischemia for patients with higher skin melanin, using NIRS for clinical detection of acute ischemia may be more challenging in these patients. These inconsistencies may limit use of NIRS clinically for spot identification of ischemia. CLINICAL RELEVANCE: Although NIRS has utility in tracking tissue oxygenation, variable performance with different skin melanin content raises concerns as to whether different cutoff/threshold levels are needed for different groups, and whether NIRS is reliable for spot checks in acute events.