Heritability and components of phenotypic expression in skin reflectance of Mestizos from the Peruvian Lowlands

Skin reflectance was measured on the inner upper arm and forehead of a sample of 209 Mestizos ranging in age from 2 to 64 years living in the town of Lamas in the Eastern Peruvian Lowlands. The sample consisted of 43 father-son, 42 father-daughter, 62 mother-son, and 70 mother-daughter pairs. The sample also consisted of 57 brother-brother, 60 sister-sister and 139 brother-sister pairs. The reflectance measurements were made with a Photovolt Reflection Meter, model 670. Stepwise polynomial regression techniques were used to derive standardized residual values. Then using these residual values parent-offspring, sibling intraclass correlations and components of the phenotypic expression of skin reflectance were calculated. The study indicates that 1) the parent-offspring and sibling correlation coefficients conformed with the theoretical correlations expected assuming polygenic inheritance; 2) the husband-wife correlations indicate a high degree of assortative mating for skin color, but despite this effect the parent-offspring and sibling correlation coefficients are lower than the values expected under the influence of autosomal genes; 3) estimates of heritability and components of phenotypic expression indicate that about 55% of the total variability in skin reflectance could be attributed to the influence of additive genetic factors; and 4) there is no evidence of X-linkage in the inheritance of skin color.     

A reflectometric study of the skin in Dutch families

In the period February–May 1968 the reflectances of the exposed (forehead) and unexposed (inside upper arm) skin, were measured at nine wavelengths (430, 470, 490, 520, 550, 580, 600, 660 and 685 mμ), using an “EEL” Reflectance Spectrophotometer in 100 Dutch families. The reflectance curves of upper arm and forehead show the shape usually found in white persons. The skin colour of the upper arm is lighter than that of the forehead in males and females. A difference in skin colour between males and females is observed. The forehead reflectances of males are lower than of females, and the upper arm reflectances of females are lower than those of males. A similarly directed sex difference in skin colour at the forehead has been found in other white groups. If no difference in reaction on exposure exists between both sexes, then the skin colour of the male upper arm will be lighter than that of females, although males in general are more exposed to radiation, because male arms are less uncovered than female arms. No change in skin colour at the upper arm is observed during ageing. As judged from the wavelengths concerned the changes in skin colour at the forehead during ageing result for the greater part both from a regular accumulation of melanin, and an increase in the blood flow of the skin, particularly during the years 11–25.Intrafamilial reflectance resemblances are investigated by means of correlations computed from the upper arm reflectance values measured at wavelengths 550 and 685 mμ. Significant positive correlations between the parents, 0·299 (wavelength 550 mμ) and 0·226 (wavelength 685 mμ) respectively, indicate positive assortative mating. The pattern of intrafamilial correlation coefficients suggests a role of X-chromosomal genes in the causation of the variability in the reflectances measured at wavelength 685 mμ (a measure of melanin deposition). Intrafamilial correlation computations of reflectances measured at wavelength 550 mμ (a measure of vascular response) show some positive correlations, but the role of genes in the causation of the variability in these reflectances remains unclear.     

Skin color variation in eastern Nepal

The purpose of this paper is to provide skin color data on several endogamous groups of eastern Nepal and to demonstrate genetic microdifferentiation in skin color. Skin reflectance measures were taken at the upper inner arm and forehead sites, using the British DSL Model 99 Reflectance Spectrophotometer fitted with blue, green, and red filters. Measurements on 484 males representing six endogamous groups (Jirel, Sunwar, Sherpa, Tamang, Brahman, Chetri) were utilized. After adjusting for group-specific age effects, multivariate likelihood ratio permutation tests were used to assess ethnic differences in skin reflectance means and covariance matrices. Ethnic group membership had a highly significant effect on skin color at the upper inner arm site and at the forehead site. Differential tanning responses among groups were also detected and may represent the influence of genotype-environment interaction on reflectance traits. Mahalanobis distance analysis revealed patterns of microdifferentiation that are inconsistent with oral historical accounts. Little support was found for the ethnohistorical belief that Jirels are a hybrid group descended from Sunwars and Sherpas, even though this scenario is supported by linguistic, anthropometric, and dermatoglyphic data. We suggest that while reflectometric studies of skin pigmentation may be useful in assessing the macrodifferentiation of human populations, the use of skin color in differentiation studies at the local population level needs to be carefully evaluated.     

Genetic and environmental determinants of skin color

Skin reflectance measurements on a sample of 154 Black and 191 White same-sex twin pairs, attending Philadelphia area schools, are analyzed to determine the effects of genetic and environmental factors. The measurements obtained in July and August, on the forehead, inner upper arm, and flexor surface of the forearm with red, green, and blue filters, were reduced to one index which we call skin color. Analysis of this index using the path analysis of Rao et al. ('74) estimates the major variance components due to racial, residual genetic, and common environmental factors as 67%, 5%, and 22%, respectively.     

Skin reflectance relationships with temperature and skinfolds

Skin reflectance measurements were taken with six filters at a site on the medial aspect of the upper arm (underarm) prior to and following topical application of a cold compress. Skinfolds were measured at the underarm and triceps sites. The experiment was designed to test for effects of skin surface temperature and subcutaneous fat variations on skin color as determined by reflectometry. Topical cold-induced erythema of the skin produced marked declines in % reflectance at the shorter visible wavelengths over the range of violet, blue, and green, and only slight declines in % reflectance at the longer visible wavelengths (red range). This is consistent with the observation from past work that there is little hemoglobin absorptance at the red end of the visible spectrum. A positive relationship between the change in % reflectance following topical cold application and underarm skinfold was recorded. Hence, the thickness of fat deposits may contribute to variation in skin reflectance. Since only large temperature differences influenced skin reflectance measurements, the need is not great for fieldworkers to control for surface temperature at the underarm site during skin reflectance survey.     

Quantitative genetic analysis of skin reflectance: a multivariate approach.

Skin color is a polygenically determined quantitative trait. Although it has been used extensively in studies of between-population variation, there have been relatively few studies of the inheritance of skin color. In this article we use measurements on 359 members of the Jirel population of eastern Nepal to assess the heritabilities and additive genetic correlations of three skin reflectance measures. Skin color was measured at the upper inner arm site at three wavelengths. A maximum likelihood approach was used to estimate sex and age effects on skin reflectance, heritabilities, and phenotypic variances at each wavelength and both additive genetic and environmental correlations between wavelengths. This technique incorporated information from 36 pedigrees with 2-25 members and 173 independent individuals. Likelihood ratio tests were used to assess the significance of specific variance/covariance components. The results indicate that skin reflectances are moderately heritable at all three wavelengths. The pairwise phenotypic correlations ranged from 0.76 to 0.88. The observed additive genetic correlations were not significantly different from 1.00, suggesting that the same loci influence variation at each wavelength. This evidence for relatively complete pleiotropy implies that measurements at multiple wavelengths yield little additional genetic information, although they may be useful for reducing measurement error. Based on estimates of the genetic and phenotypic covariance matrices, we determined that skin reflectance measurements are expected to provide only as much information for assessing local between-population genetic variation as a single two-allele polymorphic marker. Therefore microevolutionary studies based on skin color variation should be viewed with caution.     

Skin color comparisons among ethnic groups of college men

Reflectance readings of skin color were taken on the medial aspect of the left upper arm. The subjects were United States college men between ages 18 and 27 years attending the University of South Carolina. Using the DSL 99 Reflectance Spectrophotometer, readings were obtained under controlled conditions at five settings (601, 603, 605, 607, 609). Ethnic groups studied included young men of 1) Northwest European White ancestry, 2) West African Black ancestry, and 3) Afro-Black/Amerind ancestry. Means and variability statistics serve to describe the skin color distributions. Means were near 12 and 32 for filters 601 and 609 on men of West African Black ancestry, with corresponding means near 36 and 64 on men of Northwest European White ancestry. There was no overlapping of comparable frequency distributions from these two ethnic groups. Significance tests at P = .01 allowed acceptance of the hypothesis that skin color on the medial arm surface was darker for young men of Afro-Black ancestry than for those of 75% Afro-Black ancestry and 25% Amerind ancestry. Means from original data were compared with means from earlier studies on black and white males in Africa, America, and Europe.     

Skin colour in north Indian populations

The skin colour of six endogamous groups of north India has been studied reflectometrically. The percentage reflectance at upper arm and forchead of 650 adult males (20–25 years) is described and discussed using 601 (425 nm), 605 (545 nm) and 609 (685 nm) filters of the “EEL” spectrophotometer. The inter-group heterogeneity is revealed by variance-ratio test. The t-test has been applied to study inter-group differences in pigmentation. Some correspondence has been found in skin colour with caste hierarchy, which holds only when the populations living in the same region are compared. These differences are assigned to adaptive adjustments superimposed by caste endogamy and assortative mating for skin colour.     

Technical Note: Comparing von Luschan skin color tiles and modern spectrophotometry for measuring human skin pigmentation

Prior to the introduction of reflectance spectrophotometry into anthropological field research during the 1950s, human skin color was most commonly classified by visual skin color matching using the von Luschan tiles, a set of 36 standardized, opaque glass tiles arranged in a chromatic scale. Our goal was to establish a conversion formula between the tile‐based color matching method and modern reflectance spectrophotometry to make historical and contemporary data comparable. Skin pigmentation measurements were taken on the forehead, inner upper arms, and backs of the hands using both the tiles and a spectrophotometer on 246 participants showing a broad range of skin pigmentation. From these data, a second‐order polynomial conversion formula was derived by jackknife analysis to estimate melanin index (M‐index) based on tile values. This conversion formula provides a means for comparing modern data to von Luschan tile measurements recorded in historical reports. This is particularly important for populations now extinct, extirpated, or admixed for which tile‐based measures of skin pigmentation are the only data available. Am J Phys Anthropol 151:325–330, 2013. © 2013 Wiley Periodicals, Inc.     

Admixture and skin color in the transplanted Tlaxcaltecan population of Saltillo,Mexico

Ethnohistoric accounts and serological analyses have documented the genetic effects of transplantation and admixture of several subpopulations of Tlaxcaltecans in Saltillo, Mexico. Interpopulational affinities are assessed using skin reflectance readings taken at the upper inner arm site with a Photovolt Model 670 reflectance spectrophotometer for these groups, focusing on the barrios of La Minita and Chamizal. Genetic distance analyses based on blood groups and skin reflectance data are in close agreement and reflect differential rates of admixture for these groups. Admixture estimates for a dihybrid model (Indian-Spanish) were derived from skin reflectances and show a slight tendency for underestimation of Spanish admixture when compared to blood group estimates. Application of a trihybrid model incorporating West African admixture shows similar estimates based on blood groups, immunoglobulins, and skin color.     

Selection for skin color among the Japanese

A reflectance spectrophotometer was used to record the skin color on the inner side of the upper arm on a series of 421 Japanese students of both sexes aged 15 through 19. All geographic regions in the country, and the upper, middle and lower socioeconomic classes were represented. It was found that, as among most peoples previously studied, males are darker than females. Boys from northern Japan are, on average, a bit lighter than are those from the southwest, but there are no geographically based differences among the girls. In both sexes and all areas, the mean reflectance values of the upper class group are higher than in the middle and lower class groups, but the difference is most pronounced among the males. It is therefore concluded that social selection for light skin color has had some genetic effect.     

Ecological factors in skin color variation among Papua New Guineans

An EEL reflectance spectrophotometer was used to measure the skin color of the inner upper arm and the forearm of 913 Karkar Islanders (Madang District) and 684 Lufa villagers (Eastern Highlands District). The samples were subdivided to study sex, age, and population variation against a background of ecological observations, including sunlight exposure, clothing, and erythemally effective wavelengths of ultraviolet light (Robertson, unpublished Ph.D. thesis, 1974). Population differences in sex and age variation in upper arm skin color may largely be attributable to the effects of culturally associated clothing differences. Not only do the Lufa villagers wear substantially less clothing than the Karkars, but also their arms are exposed more frequently to ultraviolet light during heavy manual work in unshaded gardens. For the melanin content of the forearm skin there are similar patterns of age variation in both populations; however, the populations differ in mean percentage of reflectance throughout most of the age span. These between-population differences are interpreted as a consequence of greater average daily exposure to sunlight and the higher intensity of ultraviolet light in the highland environment. On the forearm the percentage of reflectance at 685 nm decreases more rapidly with age in the prepubertal and adult age groups, a result attributed to endocrine changes superimposed on cumulative changes in the melanin pigmentary mechanism.     

Comparison of narrow-band reflectance spectroscopy and tristimulus colorimetry for measurements of skin and hair color in persons of different biological ancestry

We have used two modern computerized handheld reflectometers, the Photovolt ColorWalk colorimeter (a tristimulus colorimeter; Photovolt, UMM Electronics, Indianapolis, IN) and the DermaSpectrometer (a specialized narrow-band reflectometer; Cortex Technology, Hadsund, Denmark), to compare two methods for the objective determination of skin and hair color. These instruments both determine color by measuring the intensity of reflected light of particular wavelengths. The Photovolt ColorWalk instrument does so by shining a white light and sensing the intensity of the reflected light with a linear photodiode array. The ColorWalk results can then be expressed in terms of several standard color systems, most importantly, the Commission International d'Eclairage (CIE) Lab system, in which any color can be described by three values: L*, the lightness; a*, the amount of green or red; and b*, the amount of yellow or blue. Instead of a white light and photodiodes, the DermaSpectrometer uses two light-emitting diodes (LEDs), one green and one red, to illuminate a surface, and then it records the intensity of the reflected light. The results of these readings are expressed in terms of erythema (E) and melanin (M) indices. We measured the unexposed skin of the inner upper arm, the exposed skin of the forehead, and the hair, of 80 persons using these two instruments. Since it is important for the application of these measures in anthropology that we understand their relationship across a number of different pigmentation levels, we sampled persons from several different groups, namely, European Americans (n = 55), African Americans (n = 9), South Asians (n = 7), and East Asians (n = 9). In these subjects, there is a very high correlation between L* and the M index for the inner arm (R(2) = 0.928, P < 0.001), the forehead (R(2) = 0.822, P < 0.001), and the hair (R(2) = 0.827, P < 0.001). The relationship between a* and the E index is complex and dependent on the pigmentation level. We conclude that while both types of instruments provide accurate estimates of pigment level in skin and hair, measurements using narrow-band instruments may be less affected by the greater redness of certain body sites due to increased vascularization.     

New conversion formulae for light-skinned populations using photovolt and E.E.L. reflectometers

Recent research in Belize revealed that published conversion coefficients for use between the two most commonly used reflectance spectro-photometers were inadequate when applied to dark-skinned populations. New research in Ireland shows that the published conversion coefficients for light-skinned populations are also inadequate. A total of 320 school children from Longford, Ireland were measured for skin reflectances at the upper inner arm site with the Photovolt Model 670 and the E.E.L. Reflectance Spectrophotometers. Six and nine filters respectively were used to sample the visible spectrum. Multiple regression techniques were then used to estimate new conversion coefficients which accurately predict readings for one instrument by using some or all of the measurements from the other. Double cross-validation techniques showed the inadequacy of the old (1967) formulae and the very high accuracy of the new ones. Some problems encountered in this study, but not in the one which produced new formulae for dark-skinned populations, suggest further work may be necessary. Additional independently sampled light-skinned populations have not been measured on both machines, so conclusive cross-validation of the new coefficients must remain tentative. Despite this drawback, the new formulae presented here are almost certainly an improvement over the old ones. These new conversion formulae may allow previously impossible comparisons of worldwide data on similar populations.     

Skin reflectance in the Han Chinese and Tibetan populations.

Genetic and environmental factors are involved in the determination of skin pigmentation in humans. With the recent development of statistical and genetic tools in mapping complex traits in humans, it is becoming feasible to utilize such methods in identifying genes involved in skin pigmentation. Furthermore, the use of new portable reflectance spectroscopy instruments such as the Photovolt ColorWalk colorimeter allows researchers to measure skin reflectance of a large number of subjects with ease and accuracy. We used a new portable instrument (Photovolt ColorWalk) to study the skin reflectance of 372 Han Chinese and 274 Tibetan individuals to establish background reflectance measurements of unexposed skin of the inner upper arm in these two populations. In addition, we explored the effect of various factors such as age and gender on skin reflectance.     

Genetic and environmental effects on growth of children from a subsistence agricultural community in southern Mexico

Sibling correlations for size attained in height, weight, sitting height, estimated leg length, the triceps skinfold, arm circumference, and estimated midarm muscle circumference were compared in 6- through 13-year-old schoolchildren grouped by household socioeconomic status. The children were residents of a Zapotec-speaking, subsistence agricultural community in the Valley of Oaxaca in southern Mexico. Sibling pairs were classified as being from high and low socioeconomic status (SES) households, and sibling correlations were computed within each SES group controlling for environmental effects derived from a factor analysis of information on household demography and land and livestock holdings. Like-sex siblings from lower SES households have significantly different correlations in four instances. Correlations are higher for leg length in lower SES brothers and higher for sitting height and weight in lower SES sisters, while the correlation for sitting height is higher in upper SES brothers. The sibling correlation results are not entirely consistent with observations on growth status by SES, particularly if the power and similarity of a common environment is the only cause of higher sibling correlations. Reduced body size under poorer socioeconomic and presumably nutritional circumstances is apparent, but it is not possible in this analysis to distinguish whether genotypic (developmental) plasticity or genetic adaptation, or both, are involved.     

汉族和藏族的皮肤反射系数分析

人类的肤色是在遗传和环境因素的共同作用下形成的。最近在人类复杂性状基因定位中,统计学和遗传学研究方法的发展,使得肤色相关基因有可能利用这些方法来甄别。而且,有了Photovolt ColorWalk色度计等便携的新式光谱反射系数测量工具,研究者可以方便准确地测量大量人群的皮肤反射系数作为遗传学研究用的人类表型性状。我们衣物Photovolt ColorWark测试了372人的一个汉族群体和274人的一个藏族群体的上臂内侧不受阳光照射的皮肤反射系数,以建立反射系数测量的基准数据。我们调查了年龄、性别、居住地纬度、种族等不同因素对皮肤反射系数的影响,也调查了皮肤反射系数的正态分布。在这些研究结果的基础上我们设计了皮肤反射系数遗传学研究的策略。     

Color perception in twins

The classical twin method was used to examine the genotype--phenotype relationship in color vision. Suprathreshold color differences were assessed by 5 pairs of monozygotic (MZ) and 3 pairs of dizygotic (DZ) twins. The control group included 3 unrelated normal trichromats, a non-twin sibling pair, and a previously diagnosed deuteranomal. Concordance rates were calculated by Spearman's correlation coefficients (rs) and Procrustean distances (gl) between the reconstructed color spaces for each related pair of observers. For 4 pairs of the MZ twins, the rs values were comparable to intraindividual variability in the control normal trichromat; they were significantly higher (0.94-0.97) than those for the DZ twins and siblings (0.72-0.82). The gl values for the MZ twins (0.008-0.029) were lower than for the DZ twins (0.073-0.079) and siblings (0.053). The high concordance between each pair of the MZ twins suggests that their shared photopigment genome constrains a contribution of possible individual variations in nongenetic factors to variability of their color spaces. Lower concordance rates in the DZ twins and siblings can be attributed to differences in the inherited arrays of photopigment genes. Contributions to intrapair variation in color spaces of twins from cognitive factors such as perceptual-cognitive color categorization and decision-process variability are discussed.     

Genomic ancestry, self-reported "color" and quantitative measures of skin pigmentation in Brazilian admixed siblings

A current concern in genetic epidemiology studies in admixed populations is that population stratification can lead to spurious results. The Brazilian census classifies individuals according to self-reported "color", but several studies have demonstrated that stratifying according to "color" is not a useful strategy to control for population structure, due to the dissociation between self-reported "color" and genomic ancestry. We report the results of a study in a group of Brazilian siblings in which we measured skin pigmentation using a reflectometer, and estimated genomic ancestry using 21 Ancestry Informative Markers (AIMs). Self-reported "color", according to the Brazilian census, was also available for each participant. This made it possible to evaluate the relationship between self-reported "color" and skin pigmentation, self-reported "color" and genomic ancestry, and skin pigmentation and genomic ancestry. We observed that, although there were significant differences between the three "color" groups in genomic ancestry and skin pigmentation, there was considerable dispersion within each group and substantial overlap between groups. We also saw that there was no good agreement between the "color" categories reported by each member of the sibling pair: 30 out of 86 sibling pairs reported different "color", and in some cases, the sibling reporting the darker "color" category had lighter skin pigmentation. Socioeconomic status was significantly associated with self-reported "color" and genomic ancestry in this sample. This and other studies show that subjective classifications based on self-reported "color", such as the one that is used in the Brazilian census, are inadequate to describe the population structure present in recently admixed populations. Finally, we observed that one of the AIMs included in the panel (rs1426654), which is located in the known pigmentation gene SLC24A5, was strongly associated with skin pigmentation in this sample.     

The Bacon Chow study: Genetic analysis of physical growth in assessment of energy–protein malnutrition

Estimates of the prevalence of energy–protein malnutrition almost universally employ physical growth measurements. In this study we focus on this disease and the role of body size of relatives as mediators of responses in individuals to one type of nutrition intervention: supplementation of pregnant and lactating women. In this study, initiated by Dr. Bacon Chow and others in 1967, during gestation of a first infant a mother was untreated, while during the lactation of the first infant and the gestation and lactation of a second infant she was treated with either a calorie supplement or a placebo. Supplement–placebo group differences were sought in sibling and mother–child correlations in growth from birth to 30 months, in order to assess the role of heredity as a mediator of supplement effects. There were 108 pairs of siblings whose mothers had received a high-calorie–high-protein supplement as described above and 105 pairs of siblings whose mothers had received a placebo. Among the latter, sibling correlations for most measurements are statistically significant at birth, and of the same magnitude seen in previous studies (～0.5), while among supplemented siblings, birth correlations are unusually low and often insignificant. The sibling correlations in Rohrer's index (wt/L³) differed the most between groups (p < 0.01). Group differences in the sibling correlation tended to disappear over the first 2.5 years of life. Correlations between mothers and their second children in subscapular skinfold tended to be higher in the supplemented than in the placebo group, birth to 30 months. In both supplement groups mother–second child correlations for body weight were higher than mother–first child correlations, suggesting the occurrence of secular changes in the environment unconnected with the treatment. The results suggest that: (1) genetic analysis of components of anthropometric variation may be a more sensitive method than the more conventional comparison of group means in detecting supplement effects; and (2) infant relative weight (Rohrer index), particularly the addition of subcutaneous fat, may be more affected by maternal supplementation than growth in weight or length alone.