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Heterochronic quantitative microevolution: dental divergence in aboriginal Americans.

Studies of tooth crown morphology alone have proven valuable in defining human population differentiation. We test the hypothesis that quantitative comparisons of more complex whole tooth structure may prove informative in understanding human diversity. Three disparate populations in Native American genetic history were compared: Kodiak Island Western Eskimos, Peruvian Inca Amerindians, and Southeast Asians. Enamel depth (an increasing gradient extended from Southeast Asians to the Inca) and root parameters were the most discriminating variables. The observed microevolution appears to result from variation in timing of known X-linked, Y-linked, and autosomal genes that affect either ameloblast or odontoblast differentiation. The dental traits were sexually dimorphic, the effect being more pronounced in aboriginal Americans, with male teeth having robust roots and thin enamel compared to female. Southeast Asians were isometrically related. The prominence of sexual dimorphism and the importance of sex-linked genes in the determination of the dental phenotypes suggest that sexual selection was one evolutionary force acting on early Asian populations. Subsequently, the selection appears to have been relaxed in Southeast Asians. Observed divergence of tooth shape among the populations, i.e., differences in the appropriation process of tooth primordia, was mainly the consequence of genetic drift modulating heterochronic regulators of homeotic genes.

Analysis of Variance↗

Y chromosome markers and Trans-Bering Strait dispersals.

Five polymorphisms involving two paternally inherited loci were surveyed in 38 world populations (n = 1,631) to investigate the origins of Native Americans. One of the six Y chromosome combination haplotypes (1T) was found at relatively high frequencies (17.8-75.0%) in nine Native American populations (n = 206) representing the three major linguistic divisions in the New World. Overall, these data do not support the Greenberg et al. (1986) tripartite model for the early peopling of the Americas. The 1T haplotype was also discovered at a low frequency in Siberian Eskimos (3/22), Chukchi (1/6), and Evens (1/65) but was absent from 17 other Asian populations (n = 987). The perplexing presence of the 1T haplotype in northeastern Siberia may be due to back-migration from the New World to Asia.

Biological Evolution↗

Skeletal evidence of health and disease in pre-contact Alaskan Eskimos and Aleuts.

There have been relatively few paleopathological studies of arctic populations to date, compared to other regions of North America. Studies aimed at elucidating patterns of health and disease in arctic peoples prior to contact and assessing inter- and intraregional differences in disease patterns have been particularly few. In the present study, five pre-contact skeletal samples (N = 193), representing 4 Eskimo populations from northern coastal Alaska and 1 Aleut population from the eastern Aleutian Islands, were examined macroscopically for the following indicators of health status: cribra orbitalia, porotic hyperostosis, trauma, infection, dental caries, abscesses, antemortem tooth loss, periodontal disease, and dental attrition. In addition, archeological and epidemiological data were used to help reconstruct the health of these populations. The goals of the analysis were 2-fold: 1) to assess the pre-contact health of North Alaskan Eskimos and Aleuts in order to provide a baseline comparison for the post-contact health of these groups, and 2) to determine if any differences in disease patterns exist between the Eskimos and Aleuts that might be related to differences in their physical environment, subsistence patterns, and cultural practices. The analysis revealed that both groups suffered from a variety of health problems prior to contact, including iron deficiency anemia, trauma, infection, and various forms of dental pathology. Statistical comparisons of the 2 groups revealed that Eskimos and Aleuts had different patterns of health and disease prior to contact. Most notably, the Aleuts had a significantly higher frequency of cranial trauma and infracranial infection than the Eskimos, while the latter had a significantly higher frequency of enamel hypoplasia. An examination of the physical and cultural environment of the 2 groups reveals several possible explanations for these differences, including warfare, subsistence pursuits, and housing practices. The documentation of these differences indicates that variability in pre-contact disease patterns can be identified between hunter-gatherer populations living in similar environments and exhibiting similar general lifestyles.

Alaska↗

Mitochondrial DNA variation in Koryaks and Itel'men: population replacement in the Okhotsk Sea-Bering Sea region during the Neolithic.

In this study, we analyzed the mitochondrial DNA (mtDNA) variation in 202 individuals representing one Itel'men and three Koryak populations from different parts of the Kamchatka peninsula. All mtDNAs were subjected to high resolution restriction (RFLP) analysis and control region (CR) sequencing, and the resulting data were combined with those available for other Siberian and east Asian populations and subjected to statistical and phylogenetic analysis. Together, the Koryaks and Itel'men were found to have mtDNAs belonging to three (A, C, and D) of the four major haplotype groups (haplogroups) observed in Siberian and Native American populations (A-D). In addition, they exhibited mtDNAs belonging to haplogroups G, Y, and Z, which were formerly called "Other" mtDNAs. While Kamchatka harbored the highest frequencies of haplogroup G mtDNAs, which were widely distributed in eastern Siberian and adjacent east Asian populations, the distribution of haplogroup Y was restricted within a relatively small area and pointed to the lower Amur River-Sakhalin Island region as its place of origin. In contrast, the pattern of distribution and the origin of haplogroup Z mtDNAs remained unclear. Furthermore, phylogenetic and statistical analyses showed that Koryaks and Itel'men had stronger genetic affinities with eastern Siberian/east Asian populations than to those of the north Pacific Rim. These results were consistent with colonization events associated with the relatively recent immigration to Kamchatka of new tribes from the Siberian mainland region, although remnants of ancient Beringian populations were still evident in the Koryak and Itel'men gene pools.

Alaska↗

The negative association between traditional physical activities and the prevalence of glucose intolerance in Alaska Natives.

The once low prevalence of non-insulin-dependent (Type 2) diabetes (NIDDM) in Eskimos and Indians has risen approximately fourfold over the past 30 years, suggesting the presence of a non-genetic factor affecting NIDDM prevalence. At the same time, traditional physical activities required of a subsistence (self-sufficiency) lifestyle have diminished. Since physical activity has been shown to prevent NIDDM in other populations, we performed a case-control study of physical activity and glucose intolerance in 666 Yup'ik Eskimos and Athabaskan Indians > or = 40 years old in 15 villages in the Yukon Kuskokwim Delta in Alaska. Self-administered questionnaires were used to determine whether subjects participated in a number of traditional activities and/or their modern counterpart (for example, dog sledding and riding motorized vehicles). Intensity values and a score were defined for the activities. Cases included known or newly discovered impaired glucose tolerance or NIDDM. Newly discovered cases were defined by oral glucose tolerance testing of those individuals were screening blood glucose values > or = 6.7 mmol l-1 by random capillary blood glucose testing. Cases included 11 newly discovered (1 with a history of IGT) and 26 known cases of NIDDM, and 17 newly discovered and 1 known cases of IGT. The results showed that, compared to a reference group with low-level physical activity, moderate level physical activity (odds ratio, OR, 0.7, 95% confidence interval [CI] 0.4-1.3) and high level activity (OR 0.2, CI 0.1-0.6) were associated with a lower prevalence of glucose intolerance, adjusted for age, ethnicity, body mass index, and sex.

Age Distribution↗

Human papillomavirus type 16 DNA in esophageal carcinomas from Alaska Natives.

The possible etiological role of human papillomavirus (HPV) in esophageal carcinogenesis was evaluated in Alaska Natives in whom the incidence of esophageal cancer is 1.3 and 3.8 times higher than in US Caucasian men and women, respectively. Fixed paraffin-embedded esophageal tissues from 32 cases of squamous-cell carcinoma (SCC) and 3 cases of adenocarcinoma (AC) diagnosed between 1957 and 1988 were analyzed by polymerase chain reaction (PCR) and in situ hybridization for HPV DNA sequences. Detection of the human beta-globin gene by PCR was used as a control for sufficiency of DNA and its potential for amplification in the tissue samples. Twenty-five of the tumor tissues were considered adequate for PCR analyses; HPV DNA was detected in 10 of 22 SCCs and was not found in 3 ACs. Seven of the 10 HPV-positive tissues contained sequences from the E6 gene of HPV type 16. Koilocytosis, an epithelial change consistent with HPV infection, was found in 80% of the esophageal squamous-cell tumors with HPV DNA and in 75% of those without HPV DNA. The detection of amplifiable cellular DNA was related to recentness of diagnosis; however, the detection of HPV DNA within amplifiable specimens was not related to recentness of diagnosis. A 413-bp sequence from the L1 open reading frame of HPV 16 from esophageal tissue of 2 patients was identical to sequences previously identified in cervical cells from other Alaska Natives. Our results provide molecular evidence of HPV infection, especially type 16, in archival esophageal cancer tissues from 45% of those patients whose specimens contain adequate DNA for PCR analysis.

Adenocarcinoma↗

Nasopharyngeal carcinoma in Alaskan Eskimos Indians, and Aleuts: a review of cases and study of Epstein-Barr virus, HLA, and environmental risk factors.

The records of thirty-one patients with nasopharyngeal carcinoma (NPC) diagnosed from 1966 through 1976 among the Alaskan native population (Eskimo, Aleut, Indian) were reviewed. There were 25 males and six females, which results in relatively high incidence rates per 100,000 of 13.5 for males and 3.7 for females. Clinical and pathologic features were similar to those found among southern Chinese NPC patients. Five-year survival rate was 48%. Antibodies to Epstein-Barr virus were higher in NPC patients than in patients with other tumors or matched controls. On histocompatibility testing Sin-2 was not detected, nor was there significantly increased frequency of A2. Instead, BW40 and a second locus blank occurred more often among NPC patients than among other groups. In response to a questionnaire, NPC patients more often reported use of salt fish in the childhood diet, smoking of cigarettes, and exposure to noxious inhalants than did controls, but the differences were not statistically significant.

Adult↗

Ultrastructural investigation of anaplastic salivary gland carcinomas in Eskimos.

Ultrastructural investigation of 19 malignant lymphoepithelial salivary gland tumors in Greenland Eskimos disclosed evidence of epithelial origin of the tumor cells in 18 cases. Furthermore, tumor cells exhibited markers of squamous cell differentiation in 16 cases. Signs of adenomatous differentiation were never encountered. Thus, the malignant lymphoepithelial tumor of salivary glands is the ultrastructural counterpart to the nasopharyngeal anaplastic carcinoma (malignant lymphoepithelioma), both being high-grade squamous cell carcinomas.

Adolescent↗

Familial clustering of salivary gland carcinoma in Greenland.

Salivary gland carcinoma (SGC) occurs at an increased frequency in the Eskimo population. In Greenland the incidence of SGC is 4.5-fold higher for men and 9-fold higher for women as compared with European incidence. The increased incidence is caused by low-differentiated carcinoma. Unusual familial clustering of SGC is reported among two families (five siblings). Peculiar aspects of racial and geographical distribution and possible role of genetic and environmental factors in the etiology of this relatively uncommon tumor are briefly discussed with special emphasis on the recently detected association between the Eskimos' SGC and the Epstein-Barr virus.

Adult↗

Primary liver cancer in Alaskan natives. 1980-1985.

The authors reviewed the cases of 19 Alaskan Natives (15 men, four women) with primary hepatocellular carcinoma (HCC) diagnosed during 1980-1985. Of these 19 patients, 16 were seropositive for hepatitis B surface antigen (HBsAg). Alpha-fetoprotein (AFP) was elevated in 15 patients (all were HBsAg positive). The patients ranged in age from 8 to 80 years old. Of the 19 patients, 16 were Eskimo, 13 of whom were Yupik. The annual age-adjusted (world standard) incidence of HCC for all Alaskan Natives was 9.3/100,000 for men and 2.2/100,000 for women. The tumor was resected in seven patients; six showed no recurrence of cancer 1 to 4 years after surgery. Histologic evaluation in 18 patients revealed trabecular type of HCC in 15 and acinar HCC in two others. In 16 specimens in which nontumorous liver could be studied, only six had evidence of cirrhosis; ten others showed variants of chronic persistent hepatitis.

Alaska↗

Atypical human T-cell lymphotropic virus type-I-associated T-cell lymphoma in a low-prevalence Alaska Native population. Implications for disease surveillance.

An atypical case of adult T-cell leukemia/lymphoma (ATL) associated with human T-cell lymphotropic virus type I (HTLV-I) occurred in a 46-year-old Inupiat Eskimo man with no behavioral risk factors for HTLV-I infection. The case was characterized by lack of atypical circulating lymphocytes, hypercalcemia, and opportunistic infections; and by complete remission of the initial renal parenchymal lymphoma. The lymphoma cells had a helper T-cell (CD4) immunophenotype. Serum antibodies to HTLV I/II, detected by Western immunoblot, were identified in specimens collected 31 months before the onset of illness, at the time of diagnosis, and up to 37 months later, shortly before the patient's death. Polymerase chain reaction was used to identify HTLV-I DNA in peripheral blood mononuclear cells and in lymphoma in involved skin. Clinicians should be alert to sporadic cases of both atypical and classic ATL, even in populations in which the prevalence of HTLV-I infection is low.

Alaska↗

Appropriateness of the Draw-A-Person test with Alaskan Native populations.

The appropriateness of the Draw-A-Person test with Alaskan Native populations was assessed by matching 33 White subjects to 33 Alaskan Native subjects, asking them to perform the DAP, and rating their performance according to eight criteria chosen for their clinical relevancy. Results indicated that neither level of commitment to Native culture nor ethnicity per se affected drawing ratings. It is hypothesized that the DAP is a useful clinical tool appropriate for use with Alaskan Native populations.

Acculturation↗

Climatic influences on basal metabolic rates among circumpolar populations.

This article examines evidence for elevations in basal metabolic rate (BMR) among indigenous Northern (circumpolar) populations and considers potential mechanisms and the adaptive basis for such elevations. Data on BMR among indigenous (n = 109 males; 122 females) and nonindigenous (n = 15 males; 22 females) circumpolar groups of North America and Siberia are compiled and compared to predicted BMRs based on three different references: body surface area (Consolazio et al., 1963), body mass (Schofield, 1985), and fat-free mass (Poehlman and Toth, 1995). Regardless of which reference is used, indigenous circumpolar groups show systematic and statistically significant elevations in BMR ranging from +7% to +19% above predicted values for indigenous men and from +3 to +17% for indigenous women. Nonindigenous males also show elevations in BMR, although not to the same extent as in indigenous men (deviations = +3 to +14%), whereas nonindigenous females show no clear evidence of elevated BMRs (deviations = -7 to +5%). This pattern of variation between indigenous and nonindigenous groups suggests that both functional and genetic factors play a role in metabolic adaptation to northern climes. Recent studies on the ecology and genetics of thyroid function offer insights into the mechanisms through which indigenous circumpolar populations may regulate metabolic rates. Studies of seasonal variation in thyroid hormone levels suggest that indigenous circumpolar populations may have a greater capacity to elevate BMR during severe cold than nonindigenous groups. Recent twin studies indicate a significant genetic component of thyroid responses to environmental stressors. Further research exploring the genetics of seasonal variation in thyroid function and BMR among circumpolar groups would advance understanding of the role that selection may have played in shaping metabolic variation.

Acclimatization↗