Hyperbilirubinemia in Inuit neonates.

A prospective study was undertaken to determine if Inuit and Caucasian neonates have different patterns of physiologic jaundice. Daily blood samples obtained by heel pricks of Inuit and Caucasian neonates born at the Churchill (Man.) Health Centre were assayed for the total serum bilirubin concentration. The mean peak bilirubin level in the Inuit group was significantly higher than that in the Caucasian group (8.76 v. 6.04 mg/dl [150 v. 103 mumol/l]) and occurred later (on day 3 rather than day 2). Of the Caucasian neonates, those who were breast-fed in hospital had a significantly higher (P less than 0.05) mean peak bilirubin level than those who were not, and among all the neonates who were not breast-fed in hospital the Inuit had a significantly higher mean peak bilirubin level than the Caucasians (7.98 v. 3.64 mg/dl [136 v. 62 mumol/l]). These findings indicate that factors other than breastfeeding, some of which may be genetic, are responsible for the higher and later peak in the serum bilirubin concentration in Inuit neonates.     

Poor Prognosis with In Vitro Fertilization in Indian Women Compared to Caucasian Women Despite Similar Embryo Quality

Background

Disease prevalence and response to medical therapy may differ among patients of diverse ethnicities. Poor outcomes with in vitro fertilization (IVF) treatment have been previously shown in Indian women compared to Caucasian women, and some evidence suggests that poor embryo quality may be a cause for the discrepancy. In our center, only patients with the highest quality cleavage stage embryos are considered eligible for extending embryo culture to the blastocyst stage. We compared live birth rates (LBR) between Indian and Caucasian women after blastocyst transfer to investigate whether differences in IVF outcomes between these ethnicities would persist in patients who transferred similar quality embryos.

Methodology/Principal Findings

In this retrospective cohort analysis, we compared IVF outcome between 145 Caucasians and 80 Indians who had a blastocyst transfer between January 1, 2005 and June 31, 2007 in our university center. Indians were younger than Caucasians by 2.7 years (34.03 vs. 36.71, P = 0.03), were more likely to have an agonist down regulation protocol (68% vs. 43%, P<0.01), and were more likely to have polycystic ovarian syndrome (PCOS), although not significant, (24% vs. 14%, P = 0.06). Sixty eight percent of Indian patients had the highest quality embryos (4AB blastocyst or better) transferred compared to 71% of the Caucasians (P = 0.2). LBR was significantly lower in the Indians compared to the Caucasians (24% vs. 41%, P<0.01) with an odds ratio of 0.63, (95%CI 0.46–0.86). Controlling for age, stimulation protocol and PCOS showed persistently lower LBR with an adjusted odds ratio of 0.56, (95%CI 0.40–0.79) in the multivariate analysis.

Conclusions/Significance

Despite younger age and similar embryo quality, Indians had a significantly lower LBR than Caucasians. In this preliminary study, poor prognosis after IVF for Indian ethnicity persisted despite limiting analysis to patients with high quality embryos transferred. Further investigation into explanations for ethnic differences in reproduction is needed.     

Hypertriglyceridemic-waist phenotype and glucose intolerance among Canadian Inuit: the International Polar Year Inuit Health Survey for Adults 2007�C2008

Background

Inuit have not experienced an epidemic in type 2 diabetes mellitus, and it has been speculated that they may be protected from obesity’s metabolic consequences. We conducted a population-based screening for diabetes among Inuit in the Canadian Arctic and evaluated the association of visceral adiposity with diabetes.

Methods

A total of 36 communities participated in the International Polar Year Inuit Health Survey. Of the 2796 Inuit households approached, 1901 (68%) participated, with 2595 participants. Households were randomly selected, and adult residents were invited to participate. Assessments included anthropometry and fasting plasma lipids and glucose, and, because of survey logistics, only 32% of participants underwent a 75 g oral glucose tolerance test. We calculated weighted prevalence estimates of metabolic risk factors for all participants.

Results

Participants’ mean age was 43.3 years; 35% were obese, 43.8% had an at-risk waist, and 25% had an elevated triglyceride level. Diabetes was identified in 12.2% of participants aged 50 years and older and in 1.9% of those younger than 50 years. A hypertriglyceridemic-waist phenotype was a strong predictor of diabetes (odds ratio [OR] 8.6, 95% confidence interval [CI] 2.1–34.6) in analyses adjusted for age, sex, region, family history of diabetes, education and use of lipid-lowering medications.

Interpretation

Metabolic risk factors were prevalent among Inuit. Our results suggest that Inuit are not protected from the metabolic consequences of obesity, and that their rate of diabetes prevalence is now comparable to that observed in the general Canadian population. Assessment of waist circumference and fasting triglyceride levels could represent an efficient means for identifying Inuit at high risk for diabetes.Indigenous people across the Arctic continue to undergo cultural transitions that affect all dimensions of life, with implications for emerging obesity and changes in patterns of disease burden.^1–3 A high prevalence of obesity among Canadian Inuit has been noted,^3,4 and yet studies have suggested that the metabolic consequences of obesity may not be as severe among Inuit as they are in predominantly Caucasian or First Nations populations.^4–6 Conversely, the prevalence of type 2 diabetes mellitus, which was noted to be rare among Inuit in early studies,^7,8 now matches or exceeds that of predominately Caucasian comparison populations in Alaska and Greenland.^9–11 However, in Canada, available reports suggest that diabetes prevalence among Inuit remains below that of the general Canadian population.^3,12Given the rapid changes in the Arctic and a lack of comprehensive and uniform screening assessments, we used the International Polar Year Inuit Health Survey for Adults 2007–2008 to assess the current prevalence of glycemia and the toll of age and adiposity on glycemia in this population. However, adiposity is heterogeneous, and simple measures of body mass index (BMI) in kg/m² and waist circumference do not measure visceral adiposity (or intra-abdominal adipose tissue), which is considered more deleterious than subcutaneous fat.¹³ Therefore, we evaluated the “hypertriglyceridemic-waist” phenotype (i.e., the presence of both an at-risk waist circumference and an elevated triglyceride level) as a proxy indicator of visceral fat.^13–15     

Ethnic differences in the expression of Epstein-Barr virus latent membrane protein-1 mutations in nasopharyngeal carcinoma

The latent membrane protein-1 (LMP1) of Epstein-Barr virus (EBV) is a viral oncoprotein implicated in several EBV-associated pathologies. Many studies have characterized carboxy-terminal mutations within LMP1, errors in this area are critical since this portion contains sequences responsible for LMP1 targeting, half-life and association with host cell proteins. Although, data suggests that mutations in this area extend LMP1 half-life and increase its oncogenesis, some studies have not shown this to be true for all EBV-associated tumors. In order to evaluate 3'-end LMP1-DNA mutations in three different ethnic populations with nasopharyngeal carcinoma (NPC), we examined EBV-DNA in 34 patients of various origins (Caucasian, Chinese and Inuit). While 68% of the total group expressed EBV-antigens, only 56% of Caucasians but 86% of Inuit expressed this viral protein. Over 67% of Inuit NPC tissue contained the characteristic 30 bp deletion that was observed in only 20% of Caucasians and 33% of Chinese samples. DNA sequencing revealed that the Inuit population showed the most frequent DNA mutations and corresponding amino acid alterations in LMP1. Our results suggest that EBV-associated NPC-DNA mutations in LMP1 do not occur at equal rates in different racial groups and are more common at distinct sites in NPC tissue from Chinese and Inuit sources.     

Serum Uric Acid Levels of Healthy Caucasian,Chinese and Haida Indian Males in British Columbia

Because previous studies have shown that serum uric acid levels are higher in members of the Filipino and Maori races than in Caucasians, and because gout seemed unexpectedly common in the Chinese population of Vancouver, a study of serum uric acid levels in Caucasian, Chinese and Haida Indian males was undertaken. The serum uric acid levels of 200 Caucasian, 100 Chinese and 237 Haida Indian males were determined by the ultraviolet spectrophotometric method of Dubbs, which gives a result 0.5 mg. % below that of the more commonly employed method of Grayzel. The mean level of the Caucasians was 4.55 mg. % and that of the Haida Indians 4.41 mg. %; in contrast, the Chinese mean was 5.44 mg. %, a significantly higher figure than the means of the other two groups. No explanation for this finding can be given at present.     

Essential fatty acid status of neonates born to Inuit mothers: comparison with Caucasian neonates and effect of diet.

Fatty acid compositions were determined of phospholipids isolated from venous cord plasma and from the walls of umbilical arteries and veins, collected from healthy, a terme, Inuit and Caucasian (Dutch) neonates. The Inuit fatty acid profiles were characterized by a lower essential fatty acid (EFA) status, with higher levels of monounsaturated fatty acids, of Mead acid [20:3(n-9)] and its direct elongation product, and with lower amounts of the longer chain (greater than or equal to 20 carbon atoms), highly unsaturated (greater than or equal to 4 double bonds) fatty acids of both the (n-3) and (n-6) families. Levels of linoleic- and dihomo-gamma-linolenic acids were higher in Inuit as compared to Caucasian neonates, which suggests a low activity of the delta-5-desaturase in the Inuit. Within the Inuit group, a higher intake of marine food was associated with a better neonatal (n-3) status. Although the differences between Inuit and Caucasian neonates may be of genetic rather than of dietary origin, the results imply that dietary long-chain (n-3) or (n-6) fatty acids may be particularly important during pregnancy in Inuit mothers. Further studies are indicated with respect to the EFA content of the habitual Inuit diet and levels of delta-5-desaturase activity in the Inuit.     

Cytochrome P4502C9 (CYP2C9) allele frequencies in Canadian Native Indian and Inuit populations.

CYP2C9 is the major P450 2C enzyme in human liver and contributes to the metabolism of a number of clinically important substrate drugs. This polymorphically expressed enzyme has been studied in Caucasian, Asian, and to some extent in African American populations, but little is known about the genetic variation in Native American populations. We therefore determined the 2C9*2 (Arg144Cys) and 2C9*3 (Ile359Leu) allele frequencies in 153 Native Canadian Indian (CNI) and 151 Inuit subjects by PCR-RFLP techniques. We also present genotyping data for two reference populations, 325 Caucasian (white North American) and 102 Chinese subjects. Genotyping analysis did not reveal any 2C9*4 alleles in the CNI, Inuit, Caucasian, or Chinese individuals. The 2C9*2 allele appears to be absent in Chinese and Inuit populations, but was present in CNI and Caucasian subjects at frequencies of 0.03 and 0.08-0.15, respectively. The 2C9*3 allele was not detected in the Inuit group, but occured in the CNI group (f = 0.06) at a frequency comparable to that of other ethnic groups. This group of Inuit individuals are the first population in which no 2C9*2 or *3 alleles have been detected so far. Therefore, these alleles may be extremely rare or absent, and unless other novel polymorphisms exist in this Inuit group one would not anticipate any CYP2C9 poor metabolizer subjects among this population.     

Plasma trehalase activity and diabetes mellitus

Trehalase is an enzyme which hydrolyzes the disaccharide trehalose, yielding glucose. It is widespread in nature and found in various human tissues as well as in human plasma. The synthesis and degradation of its substrate trehalose have been considered as being implicated in carbohydrate transport mechanisms. Trehalase activity has been examined in both normal subjects and diabetic patients. In the normal subjects, the frequency histogram of the enzyme activity is bimodal, indicating the existence of genetic polymorphism. The proposed model of a single autosomal locus with two alleles has been verified, with 27% of the population tested belonging to the "low-activity" phenotype and 73% being of the "high-activity" phenotype. Males have higher mean plasma trehalase activity than females. Apparently, the reverse appears to be the case in the diabetic subjects. The mean value for all nondiabetics and that of diabetics were computed and the difference was found to be statistically significant (F = 7.02, N1 = 3, N2 = 56, P less than 0.01). An experiment showed that neither the abnormally high concentration of glucose in diabetics nor any other constituent of the diabetic plasma caused an increase in plasma trehalase activity (t = 0.0724, P greater than 0.10). A Woolf and Haldane test to determine association of diabetes mellitus and plasma trehalase phenotype indicated a highly significant association with the high-activity phenotype (chi 2 = 18.5350, P less than 0.01). Thus the inference is that people with high plasma trehalase activity are more prone to develop diabetes mellitus than people with low enzyme activity.     

Metabolic syndrome risk in black South African women compared to Caucasian women.

Rapid urbanisation has led African women to have an obesity prevalence double than that of Caucasian women, and this also holds true for the stroke prevalence in Africans. The study aimed to compare various metabolic syndrome (MS) criteria of the International Diabetes Federation (IDF) of body mass index and age-matched African (n=102) and Caucasian women (n=115). More Caucasian (30.4%) than African women (24.8%) had MS. Only 48% of African women had waist circumferences (WC) higher than the IDF cutoff, compared to 62.6% of Caucasians. Caucasian women were significantly taller and heavier and had higher triglycerides, plasminogen activator inhibitor-1 activity, and cortisol. African women had significantly higher blood pressure, leptin, fibrinogen and C-reactive protein, and higher odds ratios for having the MS for HDL-cholesterol, blood pressure, and fasting glucose than Caucasians. It is concluded that the IDF WC criterion needs a downward adjustment for African women due to a smaller body size. Lean African women seem to be at higher risk for MS than Caucasians. South Africa needs to stem the increasing rates of type 2 diabetes by decreasing obesity and by education (unschooled African women showed a 4.8 times higher likelihood of having MS than schooled women).     

Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: predictions from a model based on national, racial, and ethnic group composition in central Alabama

There is interest in general population screening for hemochromatosis and other primary iron overload disorders, although not all persons are at equal risk. We developed a model to estimate the numbers of persons in national, racial, or ethnic population subgroups in Jefferson County, Alabama, who would be detected using transferrin saturation (phenotype) or HFE mutation analysis (genotype) screening. Approximately 62% are Caucasians, 37% are African Americans, and the remainder are Hispanics, Asians, or Native Americans. The predicted phenotype frequencies are greatest in a Caucasian subgroup, ethnicity unspecified, which consists predominantly of persons of Scotch and Irish descent (0.0065 men, 0.0046 women), and in African Americans (0.0089 men, 0.0085 women). Frequencies of the HFE genotype C282Y/C282Y > or = 0.0001 are predicted to occur only among Caucasians; the greatest frequency (0.0080) was predicted to occur in the ethnicity-unspecified Caucasian population. C282Y/C282Y frequency estimates were lower in Italian, Greek, and Jewish subgroups. There is excellent agreement in the numbers of the ethnicity-unspecified Caucasians who would be detected using phenotype and genotype criteria. Our model also indicates that phenotyping would identify more persons with primary iron overload than would genotyping in our Italian Caucasian, Hispanic, and African American subgroups. This is consistent with previous observations that indicate that primary iron overload disorders in persons of southern Italian descent and African Americans are largely attributable to non-HFE alleles. Because the proportions of population subgroups and their genetic constitution may differ significantly in other geographic regions, we suggest that models similar to the present one be constructed to predict optimal screening strategies for primary iron overload disorders.     

Polydactyly in the American Indian.

Polydactyly has an incidence in the American Indian twice that of Caucasians. A minimum estimate of this incidence is 2.40 per 1,000 live births. Preaxial type 1 has an incidence three to four times that reported for Caucasians or Negroes. The overall sex ratio in Indians is distorted with more males affected than females. The preaxial type 1 anomaly has a strong predilection for the hands and always is unilateral in contrast to postaxial type B where more than one-half are bilateral. The evidence to date, consisting of varying incidences of specific types of polydactyly among American whites, Negroes, and Indians in varying enviroments, suggests different gene-frequencies for polydactyly in each population. The incidence in Indians with 50% Caucasian admixture suggests that the factors controlling polydactyly are in large part genetically determined. Family studies and twin studies reported elsewhere offer no clear-cut genetic model which explains the highly variable gene frequencies.     

H-deficient blood groups of Reunion Island. III. alpha-2-L-fucosyltransferase activity in sera of homozygous and heterozygous individuals

Small amounts of H-enzyme activity (from 500 to 1,280 counts per minute [cpm]) were detected in sera of white H-deficient individuals (h/h; Reunion phenotype), while no significant H activity (less than 500 cpm) could be detected in sera of Indian H-deficient individuals (h/h; Bombay phenotype). The H-enzyme levels of the unaffected members of H-deficient pedigrees showed an H-related dosage effect. Heterozygous H/h individuals had only half as much H activity in sera (17,000 +/- 3,400 cpm) compared with homozygous H/H individuals (31,600 +/- 3,700 cpm). Data suggesting interactions between the H enzyme and the other gene specified glycosyltransferases working on the same oligosaccharide chains carrying combined ABH and Lewis antigens are analyzed in terms of their possible genetic or biochemical origin.     

Comparative analysis of intrinsic skin aging between Caucasian and Asian subjects by slide‐free in vivo harmonic generation microscopy

Phenotypical and functional differences in the intrinsic skin aging process of individuals between Caucasians and Asians have generated considerable interest in dermatology and cosmetic industry. Most of the studies focused on the stratum corneum, and in some other studies inter‐individual differences overwhelms the racial difference. None of the studies comparatively analyzes the difference from the histopathological point of view. Here we report our harmonic generation microscopy study to analyze the difference of intrinsic aging between Caucasian and Asian skin from a histopathological point of view. As a result, the cellular and nuclear areas of basal cells in Caucasian subjects were found to increase at the same rate as the Asian subjects, ideal for scoring age. The maximum thickness of the viable epidermis, the dermal papilla (DP) volume per unit area and the depth of the DP zone in Caucasians were found to decrease at faster rates than those in Asians.     

Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

Background:

Congenital sucrase–isomaltase deficiency is a rare hereditary cause of chronic diarrhea in children. People with this condition lack the intestinal brush-border enzyme required for digestion of di- and oligosaccharides, including sucrose and isomaltose, leading to malabsorption. Although the condition is known to be highly prevalent (about 5%–10%) in several Inuit populations, the genetic basis for this has not been described. We sought to identify a common mutation for congenital sucrase–isomaltase deficiency in the Inuit population.

Methods:

We sequenced the sucrase–isomaltase gene, SI, in a single Inuit proband with congenital sucrase–isomaltase deficiency who had severe fermentative diarrhea and failure to thrive. We then genotyped a further 128 anonymized Inuit controls from a variety of locales in the Canadian Arctic to assess for a possible founder effect.

Results:

In the proband, we identified a novel, homozygous frameshift mutation, c.273_274delAG (p.Gly92Leufs*8), predicted to result in complete absence of a functional protein product. This change was very common among the Inuit controls, with an observed allele frequency of 17.2% (95% confidence interval [CI] 12.6%–21.8%). The predicted Hardy–Weinberg prevalence of congenital sucrase–isomaltase deficiency in Inuit people, based on this single founder allele, is 3.0% (95% CI 1.4%–4.5%), which is comparable with previous estimates.

Interpretation:

We found a common mutation, SI c.273_274delAG, to be responsible for the high prevalence of congenital sucrase–isomaltase deficiency among Inuit people. Targeted mutation testing for this allele should afford a simple and minimally invasive means of diagnosing this condition in Inuit patients with chronic diarrhea.Congenital sucrase–isomaltase deficiency (Online Mendelian Inheritance in Man database no. #222900; www.omim.org/entry/222900) is a rare autosomal recessive form of carbohydrate malabsorption caused by reduced or absent activity of sucrase–isomaltase, a heterodimeric intestinal brush-border enzyme required for digestion of di- and oligosaccharides, including sucrose and isomaltose (Figure 1). In infants and children with this condition, exposure to specific carbohydrates, such as sucrose, results in profound fermentative diarrhea, gaseous abdominal distention, malabsorption, malnutrition and failure to thrive.^1,2 Presentation is generally after weaning, due to the introduction of sucrose-containing foods such as fruits; affected people may “self-treat” by developing a dislike of sweet foods. Because symptoms tend to improve with age, adolescents and adults with undiagnosed congenital sucrase–isomaltase deficiency may be misdiagnosed with irritable bowel syndrome.^3–5 If the condition is recognized, relief can be obtained by limiting the offending sugars, for instance, by giving a carbohydrate-free infant formula, and/or by oral digestive enzyme replacement (e.g., sacrosidase).^6,7Open in a separate windowFigure 1:Sucrase–isomaltase catalyzes the hydrolysis of the α-1,2 glycosidic bond in sucrose (A), α-1,4 glycosidic bond in maltose (B) and α-1,6 glycosidic bond in isomaltose (C), as well as α-1,4 and α-1,6 limit dextrins generated from dietary starch by α-amylase (not depicted). Blue circles depict sites of hydrolysis.Although congenital sucrase–isomaltase deficiency is rare (about 0.2%) in North Americans of European ancestry,⁸ it is relatively common in northern regions. The prevalence in Inuit people in Greenland has been estimated to be as high as 5%–10% in studies from 1972 and 1987.^9,10 In the region now known as Nunavut, the combined prevalence of congenital sucrase–isomaltase deficiency at 2 sites (Repulse Bay and Chesterfield Inlet) has been estimated at 7% in a study from 1978.¹¹ Small case series further support a high prevalence of sucrose malabsorption in locales as geographically dispersed as northern Alaska, the northwest coast of Hudson Bay and southern Manitoba.^12,13The current diagnostic gold standard for congenital sucrase–isomaltase deficiency is demonstration of complete or near-complete absence of sucrase and/or isomaltase activity in biopsy tissue of the small bowel.¹⁴ This method is direct, but it is also invasive and poses technical challenges in young patients. Also commonly used are the oral sucrose tolerance test and hydrogen breath test, in which blood glucose and breath hydrogen, respectively, are measured after an oral sucrose load.¹⁵ Of note, oral sucrose loading inevitably provokes acute abdominal discomfort and diarrhea in patients with this condition. A third option, a therapeutic trial of carbohydrate-free foods, provides a clinically meaningful demonstration of disordered carbohydrate digestion, but is not sufficiently specific to be diagnostic of congenital sucrase–isomaltase deficiency. Lastly, genetic testing of SI, the gene for this condition, is now clinically available. To date, the Human Gene Mutation Database contains a total of 16 SI mutations.¹⁶ In people of European descent, 4 mutations account for most disease alleles.¹⁷ We sought to identify a common mutation for congenital sucrase–isomaltase deficiency in the Inuit population.     

Distribution of human kappa locus IGKV2-29 and IGKV2D-29 alleles in Swedish Caucasians and Hong Kong Chinese

Polymorphism in the IGKV2-29 gene was shown to decrease the recombination frequency in B cells and to be important for immune responses to Haemophilus influenzae type b polysaccharide. By using the combination of PCR and restriction enzyme mapping, the distribution of IGKV2D-29 and IGKV2-29 gene alleles was estimated in two geographically and ethnically different groups. We found that V2D-29*01 homozygous individuals were most common in Swedish Caucasians (82%), but less common in the Chinese population of Hong Kong (28%). The homozygous V2D-29*02 genotype was found in 19% Chinese, but only in one Caucasian (1%). The frequency of the heterozygous V2D-29*01/V2D-29*02 genotype was also higher in the Chinese population (46%) compared with the Caucasians (7%). V2-29*01 homozygosity was more frequent among Caucasians (85%) than among Chinese (19%). In contrast, homozygous V2-29*02 individuals were over-represented in the Chinese population (18%), whereas only one was found among Caucasians (1%). Heterozygous V2-29*01/V2-29*02 individuals were also more common in the Chinese (63%) than the Caucasian (15%) population. Most Caucasians had the combination of V2D-29*01/V2D-29*01+V2-29*01/V2-29*01 (74%), while the most common genotype for Chinese was V2D-29*01/V2D-29*02+ V2-29*01/V2-29*02 (41%). Analysis of the association of V2D-29*02 and V2-29*02 alleles demonstrated a high degree of linkage, as for V2D-29*01 with V2-29*01. These data show a significant difference in the distribution of IGKV2D-29 and IGKV2-29 alleles among Swedish Caucasians and Hong Kong Chinese. This may help to explain differences in the occurrence of H. influenzae type b infection in the two populations. Evaluated methods for IGKV2D-29 and IGKV2-29 allele detection can be used for the screening allele polymorphisms in other particular patient groups.     

Inside Cover: Comparative analysis of intrinsic skin aging between Caucasian and Asian subjects by slide‐free in vivo harmonic generation microscopy (J. Biophotonics 4/2020)

A comparative analysis of intrinsic skin aging between Caucasian and Asian subjects by slide‐free in vivo harmonic generation microscopy is reported. The cellular and nuclear areas of basal cells in Caucasians and Asians are found to increase at the same rate, ideal for scoring age. On the other hand, the viable epidermis thickness, the dermal papilla volume and height in Caucasians are found to decrease faster than those in Asians. Further details can be found in the article by Kuan‐Hung Lin, Yi‐Hua Liao, Ming‐Liang Wei, and Chi‐Kuang Sun ( e201960063 ).

     

Anthropometric studies of the long bones of the "shell mound" Indians

The “shell mound” Indians exhibit both sexual and bilateral variations in comparative long bone lengths. Mean long bone lengths are shortest in the Indian group when compared to those reported for both Caucasians and Negroes. The radiohumeral and humero-femoral indices of the “shell mound” Indians are higher than those reported for either Caucasians or Negroes. There is a relatively high degree of anterior-posterior curvature of the femur in the Indian group when compared to the femora of Caucasian and Negroes. There is apparently no correlation between maximum femoral length and trochanter length in comparing right and left sides in either sex. The collo-diaphyseal angles are greater on the average on the left side in both sexes. The femora of male “shell mound” Indians exhibits greater average collo-diaphyseal angles than do the femora of male Caucasians.     

Superior performance of African runners in warm humid but not in cool environmental conditions.

The purpose of this study was to examine the running performances and associated thermoregulatory responses of African and Caucasian runners in cool and warm conditions. On two separate occasions, 12 (n = 6 African, n = 6 Caucasian) well-trained men ran on a motorized treadmill at 70% of peak treadmill running velocity for 30 min followed by an 8-km self-paced performance run (PR) in cool (15 degrees C) or warm (35 degrees C) humid (60% relative humidity) conditions. Time to complete the PR in the cool condition was not different between groups ( approximately 27 min) but was significantly longer in warm conditions for Caucasian (33.0 +/- 1.6 min) vs. African (29.7 +/- 2.3 min, P < 0.01) runners. Rectal temperatures were not different between groups but were higher during warm compared with cool conditions. During the 8-km PR, sweat rates for Africans (25.3 +/- 2.3 ml/min) were lower compared with Caucasians (32.2 +/- 4.1 ml/min; P < 0.01). Relative rates of heat production were less for Africans than Caucasians in the heat. The finding that African runners ran faster only in the heat despite similar thermoregulatory responses as Caucasian runners suggests that the larger Caucasians reduce their running speed to ensure an optimal rate of heat storage without developing dangerous hyperthermia. According to this model, the superior running performance in the heat of these African runners can be partly attributed to their smaller size and hence their capacity to run faster in the heat while storing heat at the same rate as heavier Caucasian runners.     

Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as quantity of melanin

Cultured human melanocytes differ tremendously in visual pigmentation, and recapitulate the pigmentary phenotype of the donor's skin. This diversity arises from variation in type as well as quantity of melanin produced. Here, we measured contents of eumelanin (EM) and pheomelanin (PM) in 60 primary human melanocyte cultures (51 neonatal and nine adults), and correlated some of these values with the respective activity and protein levels of tyrosinase, and the melanocortin-1 receptor (MC1R) genotype. Melanocytes were classified into four phenotypes (L, L+, D, D+) as depicted by visual pigmentation using light microscopy, and by the pigmentary phenotype of the donor's skin. There were large differences in total melanin (TM) and EM, which increased progressively for L, L+, D and D+ melanocytes. TM content, the sum of EM and PM, showed a good correlation with TM measured spectrophotometrically, and with the activity and protein levels of tyrosinase. Log EM/PM ratio did not correlate with MC1R genotype. We conclude that: (i) EM consistently correlates with the visual phenotype; (ii) lighter melanocytes tend to be more pheomelanic in composition than darker melanocytes; (iii) in adult melanocyte cultures, EM correlates with the ethnic background of the donors (African-American > Indian > Caucasian); and (iv) MC1R loss-of-function mutations do not necessarily alter the phenotype of cultured melanocytes.     

Nasal contribution to breathing with exercise: effect of race and gender.

Because the nose acts as a filter to prevent penetration of toxic particles and gases to the lower respiratory tract, the route of breathing, oral vs. nasal, may be an important determinant of toxicant dose to the lungs. Using respiratory inductance plethysmography and a nasal mask fitted with flowmeter, we measured the nasal contribution to breathing at rest and during exercise (to 60% maximum workload) in healthy young adults (men/women = 11/11 and Caucasian/African-American = 11/11). We found that the nasal contribution to breathing is less during submaximal exercise in the Caucasians vs. African-Americans (e.g., at 60% maximum workload, mean nasal-to-total ventilation ratio = 0.40 +/- 0.21 and 0.65 +/- 0.24, respectively, P < 0.05). This difference is likely due to the African-Americans' ability to achieve higher maximal inspiratory flows through their nose than the Caucasians. Men also had a lesser nasal contribution to breathing during exercise compared with women. This is likely due to greater minute ventilations at any given percentage of maximum workload in men vs. women.