Heritabilities of Facial Measurements and Their Latent Factors in Korean Families

Genetic studies on facial morphology targeting healthy populations are fundamental in understanding the specific genetic influences involved; yet, most studies to date, if not all, have been focused on congenital diseases accompanied by facial anomalies. To study the specific genetic cues determining facial morphology, we estimated familial correlations and heritabilities of 14 facial measurements and 3 latent factors inferred from a factor analysis in a subset of the Korean population. The study included a total of 229 individuals from 38 families. We evaluated a total of 14 facial measurements using 2D digital photographs. We performed factor analysis to infer common latent variables. The heritabilities of 13 facial measurements were statistically significant (p < 0.05) and ranged from 0.25 to 0.61. Of these, the heritability of intercanthal width in the orbital region was found to be the highest (h2 = 0.61, SE = 0.14). Three factors (lower face portion, orbital region, and vertical length) were obtained through factor analysis, where the heritability values ranged from 0.45 to 0.55. The heritability values for each factor were higher than the mean heritability value of individual original measurements. We have confirmed the genetic influence on facial anthropometric traits and suggest a potential way to categorize and analyze the facial portions into different groups.

ERRATUM: Author's Affiliation Correction. Heritabilities of Facial Measurements and Their Latent Factors in Korean Families

This erratum is being published to correct the author's affiliation.

Genome-wide linkage analysis for ocular and nasal anthropometric traits in a Mongolian population

Anthropometric traits for eyes and nose are complex quantitative traits influenced by genetic and environmental factors. To date, there have been few reports on the contribution of genetic influence to these traits in Asian populations. The aim of this study was to determine the genetic effect and quantitative trait locus (QTL) of seven traits eyes- and nose-related anthropometric measurements in an isolated Mongolian population. Frontal and lateral photographs were obtained from 1,014 individuals (434 males and 580 females) of Mongolian origin. A total of 349 short tandem repeat markers on 22 autosomes were genotyped for each individual. Heritability estimates of the seven ocular and nasal traits, adjusted for significant covariates, ranged from 0.48 to 0.90, providing evidence for a genetic influence. Variance-component linkage analyses revealed 10 suggestive linkage signals on 5q34 (LOD = 3.2), 18q12.2 (LOD = 2.7), 5q15 (LOD = 2.0), 9q34.2 (LOD = 1.9), 5q34 (LOD = 1.9), 17q22 (LOD = 1.9), 13q33.3 (LOD = 2.7), 1q36.22 (LOD = 1.9), 4q32.1 (LOD = 2.1) and 15q22.31 (LOD = 2.9). Our study provides the first evidence that genetics influences nasal and ocular traits in a Mongolian population. Additional collaborative efforts will further extend our understanding of the link between genetic factors and human anthropometric traits.

The Distribution of Intraocular Pressure and Its Association With Metabolic Syndrome in a Community / 예방의학회지

OBJECTIVES: The current study was performed to assess the distribution of intraocular pressure (IOP) and its association with metabolic syndrome (MS) in a community. METHODS: We measured IOP and MS components from 446 adults, age 20 or more years old, who reside in a community in Kyunggi Province, South Korea. We compared the level of IOP according to the number of metabolic abnormalities and between normal and abnormal metabolic components. Linear regression analyses were used to determine the relationship between IOP and metabolic components. RESULTS: No significant difference in IOP (mean +/- SE) was found between men (12.24 +/- 2.42) and women (12.55 +/- 2.41 mmHg, p > 0.1), while IOP of men tended to decrease as age increased (p for trend < 0.01). After adjusting for age, IOP of subjects with abdominal obesity in men and high blood pressure in women were significantly higher than those without abdominal obesity or high blood pressure (p < 0.05). Female subjects with MS showed significantly higher IOP than those without MS. Participants with more metabolic disturbances tended to have a greater IOP elevation with a linear trend after adjusting for age and sex. In the univariate regression analysis, age and waist circumference were significantly associated with IOP in men, but systolic and diastolic blood pressure were associated with IOP in women. In final multiple regression model, age, systolic blood pressure, and triglyceride were associated with IOP in women, and age in men. CONCLUSIONS: These findings suggest that MS and its components may be important determinants of elevated IOP.