华北人欧洲人和澳洲土著人的头骨厚度

The thickness of the cranial vault at the midline on the mid-frontal squama, pre-bregmatic einence, frontal at bregma, parietal at vertex, occipital at lambda and the external occipita1 protuberance was recorded in 40 male and 7 female Northern Chinese crania, 47 male and 52 female Australian Aboriginal crania and 13 male European crania using specially nodified vernier calipers. Comparison of vault thickness data obtained through direct measurement with those obtained fron lateral radiographs indicated that direct measurenent provided consistently more accurate results.
Male and fermale samples were processed separately so that the extent of sexbased variation could be examined.Student's t test was used to compare the sample means and the percentage of sexual dimorphism for each dimension was calculated according to Garn et al, (1964).The possibility of an allometric association between the thickness of the bones within the cranial vault, size of the cranial vault and stature was examined using Spearman's rank correlation coefficient and the Australian Aboriginal sample.
All but one of the mean thickness dimensions in the Australian Aboriginal male sample is significantly greater than the Northern Chinese and European means. The female results support those obtained with the males.In both males and females thickness at the external occipital protuberance, in all of the populations examined,did not correlate highly with that obtained from other parts of the cranial vault.This reflects the high degree of morphological variation in the position of the internal occipital protuberance and its influence on cranial vault thickness dimensions recorded at the external occipital protuberance.The European and Northern Chinese samples have similar cranial vault thickness dimensions. The Spearman's rank correlation coefficient matrix scores provide sone support for a biological association between vault thickness and overall cranial size. However, there appears to be little support for an association between stature and cranial vault thickness. The difference between the male and female mean vault thickness dimensions were significant at bregma, vertex and the external occipital protuberance in Australian Aboriginals and lambda and the external occipital protuberance in Northern Chinese. Some caution is needed in the interpretation of the Northern Chinese female data as the sample is extremely small.
Evidence of trauma, supressed fractures, is extremely common on the vaults of Australian Aboriginal crania from southern and central Australia. Traditionally Australian Aboriginals, males and females, involved in agressive dispute will use a substantial wooden implement and strike to the head of thir opponent(Meggitt 1962).The injuries that result from this are more common in females than in male. This form of social interaction must have rigorously selected against those individuals with thinner bones in their cranial vaults. To a large degree this may explain the greatly thickened vaults in Australian Aboriginals relative to Europeans and Northern Chines.This may also provide a clue to the factors resulting in the development of marked cranial vault thickness in Homo erectus.
     

Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci

Twin cohorts provide a unique advantage for investigations of the role of genetics and environment in the etiology of variation in common complex traits by reducing the variance due to environment, age, and cohort differences. The GenomEUtwin (http://www.genomeutwin.org) consortium consists of eight twin cohorts (Australian, Danish, Dutch, Finnish, Italian, Norwegian, Swedish, and United Kingdom) with the total resource of hundreds of thousands of twin pairs. We performed quantitative trait locus (QTL) analysis of one of the most heritable human complex traits, adult stature (body height) using genome-wide scans performed for 3,817 families (8,450 individuals) derived from twin cohorts from Australia, Denmark, Finland, Netherlands, Sweden, and United Kingdom with an approximate ten-centimorgan microsatellite marker map. The marker maps for different studies differed and they were combined and related to the sequence positions using software developed by us, which is publicly available (https://apps.bioinfo.helsinki.fi/software/cartographer.aspx). Variance component linkage analysis was performed with age, sex, and country of origin as covariates. The covariate adjusted heritability was 81% for stature in the pooled dataset. We found evidence for a major QTL for human stature on 8q21.3 (multipoint logarithm of the odds 3.28), and suggestive evidence for loci on Chromosomes X, 7, and 20. Some evidence of sex heterogeneity was found, however, no obvious female-specific QTLs emerged. Several cohorts contributed to the identified loci, suggesting an evolutionarily old genetic variant having effects on stature in European-based populations. To facilitate the genetic studies of stature we have also set up a website that lists all stature genome scans published and their most significant loci (http://www.genomeutwin.org/stature_gene_map.htm).     

The reliability of jump kinematics and kinetics in children of different maturity status

The purpose of this study was to determine the reliability of eccentric (ECC) and concentric (CON) kinematic and kinetic variables thought to be critical to jump performance during bilateral vertical countermovement jump (VCMJ) and horizontal countermovement jump (HCMJ) across children of different maturity status. Forty-two athletic male and female participants between 9 and 16 years of age were divided into 3 maturity groups according to peak height velocity (PHV) offset (Post-PHV, At-PHV, and Pre-PHV) and percent of predicted adult stature. All the participants performed 3 VCMJ and HCMJ trials and the kinematics, and kinetics of these jumps were measured via a force plate over 3 testing sessions. In both jumps, vertical CON mean and peak power and jump height or distance were the most reliable measures across all groups (change in the mean [CM] = -5.4 to 6.2%; coefficient of variation [CV] = 2.1-9.4%; Intraclass correlation coefficient [ICC] = 0.82-0.98), whereas vertical ECC mean power was the only ECC variable with acceptable reliability for both jumps (CM = -0.7 to 10.1%; CV = 5.2-15.6%; ICC = 0.74-0.97). A less mature state was "likely" to "very likely" to reduce the reliability of the HCMJ ECC kinetics and kinematics. These findings suggested that movement variability is associated with the ECC phase of CMJs, especially in Pre-PHV during the HCMJ. Vertical CON mean and peak power and ECC mean power were deemed reliable and appropriate to be used in children as indicators of jump and stretch-shortening cycle performance.     

Peopling of Sahul: mtDNA variation in aboriginal Australian and Papua New Guinean populations.

We examined genetic affinities of Aboriginal Australian and New Guinean populations by using nucleotide variation in the two hypervariable segments of the mtDNA control region (CR). A total of 318 individuals from highland Papua New Guinea (PNG), coastal PNG, and Aboriginal Australian populations were typed with a panel of 29 sequence-specific oligonucleotide (SSO) probes. The SSO-probe panel included five new probes that were used to type an additional 1,037 individuals from several Asian populations. The SSO-type data guided the selection of 78 individuals from Australia and east Indonesia for CR sequencing. A gene tree of these CR sequences, combined with published sequences from worldwide populations, contains two previously identified highland PNG clusters that do not include any Aboriginal Australians; the highland PNG clusters have coalescent time estimates of approximately 80,000 and 122,000 years ago, suggesting ancient isolation and genetic drift. SSO-type data indicate that 84% of the sample of PNG highlander mtDNA belong to these two clusters. In contrast, the Aboriginal Australian sequences are intermingled throughout the tree and cluster with sequences from multiple populations. Phylogenetic and multidimensional-scaling analyses of CR sequences and SSO types split PNG highland and Aboriginal Australian populations and link Aboriginal Australian populations with populations from the subcontinent of India. These mtDNA results do not support a close relationship between Aboriginal Australian and PNG populations but instead suggest multiple migrations in the peopling of Sahul.     

Sexual dimorphism in bone growth as a function of body size in moderately malnourished Guatemalan preschool age children

The sexual dimorphism in second metacarpal bone growth was investigated in 710 malnourished Guatemalan children one to seven years old to determine if the sex differences seen are only the result of differences in stature and weight. The study sample was mixed-longitudinal and consisted of 1,586 annual examinations. Boys have greater mean stature, weight, periosteal diameter, medullary diameter and cortical area than girls the same age, while girls have greater age specific mean cortical thickness and percent cortical area than boys. When the effects of stature, weight and age are removed boys still have significantly larger periosteal and medullary diameters and less cortical thickness and percent cortical area than girls. These differences between boys and girls therefore cannot be explained by sex differences in body size. However, no sex differences in cortical area remain after accounting for differences in stature, weight and age.     

Trends in stature in the South Australian Aboriginal Murraylands

Millennial and secular changes in body height of prehistoric and recent Aboriginal South Australians are investigated. Skeletal remains of 55 male and 40 female individuals who were excavated at Roonka on the River Murray were dated from 9800 to 100 years BP. Stature was reconstructed by using humerus, femur, and tibia ratios to stature derived from Abbie's (1975) data on living Aborigines and the Trotter-Gleser method for blacks. The respective averages were 1,652 mm and 1,665 mm for males and 1,527 mm and 1,549 mm for females. In 1996/1997, statures of 27 adult males and 21 adult females were measured in Aboriginal centers of Gerard and Raukkan (Point McLeay) on the Lower River Murray. These people, as far as it can be ascertained, are the descendants of the people from Roonka. Their statures were adjusted for the stature loss with age, so that the data represent young individuals (≤30 years of age). The average male stature was 1,712 mm, and the average female stature was 1,567 mm. Data collected by Wood Jones and Campbell in 1924 for Aboriginal South Australians show that young adult male stature was 1,668 mm (n = 6), and female stature was 1,552 mm (n = 4). Slopes of regressions of individual statures on radiocarbon dates and on dates of birth are not significantly different from zero. The same is true for regressions of individual long bone lengths on radiocarbon dates. It can be concluded that there was little change in stature of Aboriginal South Australians from prehistoric to recent times. Regressions of individual age-corrected heights on birth dates (1860–1980) of Aboriginal men and women measured in 1924 and in 1996 further indicate no significant increase in height in either sex. Am J Phys Anthropol 106:505–514, 1998. © 1998 Wiley-Liss, Inc.     

Craniocervical morphology and posture in Australian aboriginals

The length of the spinal column as a percentage of stature is smaller in the Australian aboriginal than in most other ethnic groups (Abbie, 1957). It is conceivable that relative lengths of the cervical column might influence population differences in craniocervical posture and craniofacial morphology. The present study aimed to elucidate this relationship by comparing head posture and craniofacial morphology in Australian aboriginals to the same features in a previously studied sample of 120 Danish students (Solow and Tallgren, 1976). The aboriginal sample consisted of 42 young male adults from the Yuendumu settlement, Northern Territory, Australia. Cephalometric films of the natural head position were taken during a field trip to the settlement. The comparison comprised 18 postural and 61 morphological variables. In the aboriginals, the cervical column was shorter and had a less pronounced lordosis. The head was held about 3° lower, and the upper cervical column was 81/2° more forward inclined. As a consequence, the craniocervical angle was about 6° larger. Comparison of the craniofacial morphology in the two groups showed in the aboriginals a shorter upper facial height, a larger anterior lower facial height, and a larger vertical jaw relationship (NL/ML). The length of the posterior cranial base, s-ba, was 4 mm shorter (P <0.001) in the aboriginals, possibly developmentally related to the generally shorter spinal column in Australian aboriginals.     

Adult stature and age at menarche in Zapotec-speaking communities in the Valley of Oaxaca,Mexico, in a secular perspective

Adult stature and the age at menarche among individuals from Zapotec-speaking communities in the Valley of Oaxaca in southern Mexico are considered in a secular perspective. Four sets of observations are utilized: (1) adult stature in males and females from five rural communities; (2) age at menarche in adult women and school girls from a single rural community; (3) earlier studies of adult stature in the Valley of Oaxaca; and (4) estimated stature from long bones excavated in various archaeological sites in the Valley of Oaxaca. There were no significant differences among the five communities for stature; hence, the data were pooled for analysis and comparison. Results of linear regression of stature and stature adjusted for the estimated effects of aging after 30 years of age on year of birth indicate negligible secular changes in either sex. Comparisons with statures from earlier surveys, the earliest dates to 1899, also indicate negligible changes. When adult women are grouped according to age, there are no differences in mean ages at menarche between the older and younger women. Mean age at menarche for the total adult sample is 14.53 ± 0.08 years, which compares favorably with the probit estimate for school girls, 14.70 ± 0.32 years. These results thus suggest virtually no secular change in adult size and maturity of the Zapotec-speaking population in the Valley of Oaxaca over the past 80 years. Differences in stature between contemporary populations and estimated statures from long bones from several archaeological sites in Oaxaca are small, and thus suggests little secular change over the past one to two–thousand years.     

Correlations between individual and familial variables in Turner's syndrome]

In 20 cases of Turner's syndrome (10 with complete X monosomy, 10 with partial X monosomy or mosaicism) aged 3.47 to 15.5 years, the stature of the individual cases and their parents were evaluated. A significant frequency of short stature in mothers (25% below--2.0 S.D.S) has been observed, with a significant difference compared to the mean female stature of the general population. No significant difference has been observed on the stature of fathers. There was a closer correlation with mother's height (r = 0.65, p = 0.001) than with father's height (p = 0.07).     

Developing forensic reference database by 18 autosomal STR for DNA identification in Republic of Belarus

For the Republic of Belarus, development of a forensic reference database on the basis of 18 autosomal microsatellites (STR) using a population dataset (N = 1040), “familial” genotypic dataset (N = 2550) obtained from expertise performance of paternity testing, and a dataset of genotypes from a criminal registration database (N = 8756) is described. Population samples studied consist of 80% ethnic Belarusians and 20% individuals of other nationality or of mixed origin (by questionnaire data). Genotypes of 12346 inhabitants of the Republic of Belarus from 118 regional samples studied by 18 autosomal microsatellites are included in the sample: 16 tetranucleotide STR (D2S1338, TPOX, D3S1358, CSF1PO, D5S818, D8S1179, D7S820, THO1, vWA, D13S317, D16S539, D18S51, D19S433, D21S11, F13B, and FGA) and two pentanucleotide STR (Penta D and Penta E). The samples studied are in Hardy–Weinberg equilibrium according to distribution of genotypes by 18 STR. Significant differences were not detected between discrete populations or between samples from various historical ethnographic regions of the Republic of Belarus (Western and Eastern Polesie, Podneprovye, Ponemanye, Poozerye, and Center), which indicates the absence of prominent genetic differentiation. Statistically significant differences between the studied genotypic datasets also were not detected, which made it possible to combine the datasets and consider the total sample as a unified forensic reference database for 18 “criminalistic” STR loci. Differences between reference database of the Republic of Belarus and Russians and Ukrainians by the distribution of the range of autosomal STR also were not detected, corresponding to a close genetic relationship of the three Eastern Slavic nations mediated by common origin and intense mutual migrations. Significant differences by separate STR loci between the reference database of Republic of Belarus and populations of Southern and Western Slavs were observed. The necessity of using original reference database for support of forensic expertise practice in the Republic of Belarus was demonstrated.     

Potential effects of ethnicity in genetic and environmental sources of variability in the stature, mass, and body mass index of children

We examined sources of variability in stature, body mass, and body mass index (BMI) in families of black and white elementary schoolchildren from Philadelphia, Pennsylvania. The sample consisted of 445 black and 379 white children, 7-13 years old, and their parents (total n = 2016). The sample was distributed among 596 nuclear families, each representing an independent pedigree. Maximum-likelihood-based variance decomposition methods were used to simultaneously estimate ethnic group-specific effects of genes, sex, age by sex, and unmeasured environmental factors on stature, body mass, and BMI. Likelihood ratio tests were performed to assess the significance of h2 estimates and differences in sigma g and sigma e between black and white families. Genes account for moderate proportions of the phenotypic variance (h2) of these traits in black and white children. In black and white children, respectively, h2 estimates were 0.37 and 0.53 for stature, 0.37 and 0.31 for body mass, and 0.38 and 0.24 for BMI (p < 0.0005). Although the differences in h2 between ethnic groups were not significant (stature, p = 0.23; body mass, p = 0.49; BMI, p = 0.14), black children exhibited a significantly greater total residual phenotypic standard deviation (sigma e and sigma g) in body mass and BMI and a significantly greater sigma e for stature compared with white children. The larger residual phenotypic variance in the black sample is likely due to exposure to unmeasured environmental factors that are not accounted for in this model. Given that sigma g for stature is not significantly different between ethnic groups, the slightly lower estimates in black children are due to the increased contribution of the environment to the phenotypic variance in this trait.     

Whole-Genome Genetic Diversity in a Sample of Australians with Deep Aboriginal Ancestry

Australia was probably settled soon after modern humans left Africa, but details of this ancient migration are not well understood. Debate centers on whether the Pleistocene Sahul continent (composed of New Guinea, Australia, and Tasmania) was first settled by a single wave followed by regional divergence into Aboriginal Australian and New Guinean populations (common origin) or whether different parts of the continent were initially populated independently. Australia has been the subject of relatively few DNA studies even though understanding regional variation in genomic structure and diversity will be important if disease-association mapping methods are to be successfully evaluated and applied across populations. We report on a genome-wide investigation of Australian Aboriginal SNP diversity in a sample of participants from the Riverine region. The phylogenetic relationship of these Aboriginal Australians to a range of other global populations demonstrates a deep common origin with Papuan New Guineans and Melanesians, with little evidence of substantial later migration until the very recent arrival of European colonists. The study provides valuable and robust insights into an early and important phase of human colonization of the globe. A broader survey of Australia, including diverse geographic sample populations, will be required to fully appreciate the continent''s unique population history and consequent genetic heritage, as well as the importance of both to the understanding of health issues.     

The repeated-bout effect: influence on biceps brachii oxygenation and myoelectrical activity

This study investigated biceps brachii oxygenation and myoelectrical activity during and following maximal eccentric exercise to better understand the repeated-bout effect. Ten men performed two bouts of eccentric exercise (ECC1, ECC2), consisting of 10 sets of 6 maximal lengthening contractions of the elbow flexors separated by 4 wk. Tissue oxygenation index minimum amplitude (TOI(min)), mean and maximum total hemoglobin volume by near-infrared spectroscopy, torque, and surface electromyography root mean square (EMG(RMS)) during exercise were compared between ECC1 and ECC2. Changes in maximal voluntary isometric contraction (MVC) torque, range of motion, plasma creatine kinase activity, muscle soreness, TOI(min), and EMG(RMS) during sustained (10-s) and 30-repeated isometric contraction tasks at 30% (same absolute force) and 100% MVC (same relative force) for 4 days postexercise were compared between ECC1 and ECC2. No significant differences between ECC1 and ECC2 were evident for changes in torque, TOI(min), mean total hemoglobin volume, maximum total hemoglobin volume, and EMG(RMS) during exercise. Smaller (P < 0.05) changes and faster recovery of muscle damage markers were evident following ECC2 than ECC1. During 30% MVC tasks, TOI(min) did not change, but EMG(RMS) increased 1-4 days following ECC1 and ECC2. During 100% MVC tasks, EMG(RMS) did not change, but torque and TOI(min) decreased 1-4 days following ECC1 and ECC2. TOI(min) during 100% MVC tasks and EMG(RMS) during 30% MVC tasks recovered faster (P < 0.05) following ECC2 than ECC1. We conclude that the repeated-bout effect cannot be explained by altered muscle activation or metabolic/hemodynamic changes, and the faster recovery in muscle oxygenation and activation was mainly due to faster recovery of force.     

Book Reviews

Book reviewed in this article: Game Theory in the Behavioral Sciences . Edited by Ira R. Buchler and Hugo G. Nutini. The Work of Administration in Nigeria . By D. J. Murray Man in Africa . Edited by Mary Douglas and Phyllis M. Kaberry World Archaeology . Published thrice yearly (February, June and October). Routledge and Regan Paul The Juntunen Site and the Late Woodland Prehistory of the Upper Great Lakes Area . By Alan McPherron The Social Context of Art in Northern New Ireland . By P. H. Lewis Matupit (Land, Politics, and Change among the Tolai of New Britain) . By A. L. Epstein A Grammar of Ngarinjin, Western Australia . By H. H. J. Coate and Lynette Oates Human Waya: Selected Essays in Anthropology . By J. P. Gillin Proper Peasants . By Edit Fél and-Tamás Hofer The Impact of Civilisation on the Biology of Man . Edited by S. V. Boy den Adoption in Eastern Oceania . Edited by V. Carroll Central Australian and Western Desert Regions: an annotated bibliography . Compiled by Beryl F. Craig Journey to Aboriginal Victoria , By Aldo Massola Quinkan Country-Adventures in Search of Aboriginal Cave Paintings in Cape York . By P. J. Trezise. A. H. & A. W. Reed The Dark Australians . By Douglass Baglin and David R. Moore Narratives from the North-West of Western Australia . By C. G. von Brandenstein Kunstetbnologie. Orondbegriffe, Methoden, Darstellung . By Herta Haselberger Maori Wood Sculpture of New Zealand . By T. Barrow. A. H. & A. W. Reed Archaeology in Western Samoa. Vol. 1 . Edited by R. C. Green and Janet M. Davidson Aboriginal Antiquities in Australia; their Nature and Preservation . Edited by F. D. McCarthy Black Australians . By Sir Paul Hasluck     

Stature estimation in ancient Egyptians: a new technique based on anatomical reconstruction of stature

Trotter and Gleser's (Trotter and Gleser: Am J Phys Anthropol 10 (1952) 469-514; Trotter and Gleser: Am J Phys Anthropol 16 (1958) 79-123) long bone formulae for US Blacks or derivations thereof (Robins and Shute: Hum Evol 1 (1986) 313-324) have been previously used to estimate the stature of ancient Egyptians. However, limb length to stature proportions differ between human populations; consequently, the most accurate mathematical stature estimates will be obtained when the population being examined is as similar as possible in proportions to the population used to create the equations. The purpose of this study was to create new stature regression formulae based on direct reconstructions of stature in ancient Egyptians and assess their accuracy in comparison to other stature estimation methods. We also compare Egyptian body proportions to those of modern American Blacks and Whites. Living stature estimates were derived using a revised Fully anatomical method (Raxter et al.: Am J Phys Anthropol 130 (2006) 374-384). Long bone stature regression equations were then derived for each sex. Our results confirm that, although ancient Egyptians are closer in body proportion to modern American Blacks than they are to American Whites, proportions in Blacks and Egyptians are not identical. The newly generated Egyptian-based stature regression formulae have standard errors of estimate of 1.9-4.2 cm. All mean directional differences are less than 0.4% compared to anatomically estimated stature, while results using previous formulae are more variable, with mean directional biases varying between 0.2% and 1.1%, tibial and radial estimates being the most biased. There is no evidence for significant variation in proportions among temporal or social groupings; thus, the new formulae may be broadly applicable to ancient Egyptian remains.     

Geographic Variation of Intrahepatic Cholangiocarcinoma,Extrahepatic Cholangiocarcinoma,and Hepatocellular Carcinoma in the United States

Background

Intrahepatic (ICC) and extrahepatic cholangiocarcinomas (ECC) are tumors that arise from cholangiocytes in the bile duct, but ICCs are coded as primary liver cancers while ECCs are coded as biliary tract cancers. The etiology of these tumors is not well understood. It has been suggested that the etiology of ICC is more similar to that of another type of liver cancer, hepatocellular carcinoma (HCC), than to the etiology of ECC. If this is true, geographic incidence patterns and trends in ICC incidence should be more similar to that of HCC than ECC.

Methods

To examine this hypothesis, data from the North American Association of Central Cancer Registries Cancer in North America data file were analyzed. Incidence rates and joinpoint trends were calculated by demographic subgroup. County-level incidence rates were mapped.

Results

Overall incidence rates, racial distribution, male:female ratio, and peak ages were more similar between ICC and ECC than with HCC. During 2000–2009, average annual incidence rates of ECC increased. During 2005–2009, average annual ICC incidence rates also increased. High rates for all three cancer sites were found in the Pacific region, particularly Hawaii and Alaska. Rates of ICC and ECC were also high in the Northeast and the upper Midwest, while rates of HCC were high in the South.

Conclusions

Demographic patterns and geographical variation were more closely related between ICC and ECC than HCC, suggesting that the etiology of ICC and ECC may be similar. Increasing rates of both tumors suggest that further etiology studies are warranted.     

Resilience amongst Australian Aboriginal Youth: An Ecological Analysis of Factors Associated with Psychosocial Functioning in High and Low Family Risk Contexts

We investigate whether the profile of factors protecting psychosocial functioning of high risk exposed Australian Aboriginal youth are the same as those promoting psychosocial functioning in low risk exposed youth. Data on 1,021 youth aged 12–17 years were drawn from the Western Australian Aboriginal Child Health Survey (WAACHS 2000–2002), a population representative survey of the health and well-being of Aboriginal children, their families and community contexts. A person-centered approach was used to define four groups of youth cross-classified according to level of risk exposure (high/low) and psychosocial functioning (good/poor). Multivariate logistic regression was used to model the influence of individual, family, cultural and community factors on psychosocial outcomes separately for youth in high and low family-risk contexts. Results showed that in high family risk contexts, prosocial friendship and low area-level socioeconomic status uniquely protected psychosocial functioning. However, in low family risk contexts the perception of racism increased the likelihood of poor psychosocial functioning. For youth in both high and low risk contexts, higher self-esteem and self-regulation were associated with good psychosocial functioning although the relationship was non-linear. These findings demonstrate that an empirical resilience framework of analysis can identify potent protective processes operating uniquely in contexts of high risk and is the first to describe distinct profiles of risk, protective and promotive factors within high and low risk exposed Australian Aboriginal youth.     

Interleukin 1-beta responses to bacterial toxins and sudden infant death syndrome

We tested the hypothesis that significantly higher IL-1beta responses to toxic shock syndrome toxin (TSST) noted for parents of sudden infant death syndrome (SIDS) infants might be due in part to genetic factors such as the IL-1beta (C-511T) and IL-1RN (T+2018C) single nucleotide polymorphisms (SNP). The first objective was to assess the distribution of these polymorphisms among SIDS infants, parents of SIDS infants and controls, and two ethnic groups: Aboriginal Australians who have a high incidence of SIDS; and Bangladeshis who in Britain have a low incidence of SIDS compared with Europeans. The second objective was to assess IL-1beta responses to endotoxin and toxic shock syndrome toxin (TSST) from leukocytes of smokers and non-smokers in relation to these polymorphisms. There were major differences in the distributions of the IL-1beta (C-511T) SNP between Europeans and Bangladeshis (p=0.00) and between Europeans and Aboriginal Australians (p=0.00); however, they were similar for the Bangladeshi and Aboriginal Australian subjects. The allele frequency distribution of the IL-1RN (T+2018C) SNP for the Aboriginal Australians was statistically different from the European group (p=0.00), but it was not different from the Bangladeshi group (p=0.09). Compared with controls of European origin, there were no significant differences in the distribution of these polymorphisms among SIDS infants or parents of SIDS infants. For the IL-1beta (C-511T) SNP, the highest IL-1beta responses to endotoxin were obtained with leukocytes of non-smokers with the heterozygous CT genotype. Smokers had significantly lower levels of IL-1beta in response to endotoxin (p=0.01) and these differences were significant for donors with the wild type CC (p=0.00) and CT (p=0.03) genotypes. Similar patterns were observed for IL-1beta responses to TSST, but the differences were not significant. For the IL-1RN (T+2018C) SNP, the highest IL-1beta responses to endotoxin were obtained with leukocytes from non-smoker donors with the wildtype TT genotype and significantly lower responses were found with leukocytes from donors with the TC genotype (p=0.02). The responses of smokers were lower but the differences were significant only for donors with the TT genotype (p=0.00). Similar patterns were observed for IL-1beta responses to TSST, but the differences were not significant. IL-1beta responses to both endotoxin and TSST were increased for the small number of smokers with the TT genotype of the IL-1beta (C-511T) SNP. The TT genotype of the IL-1beta (C-511T) was found predominantly among Aboriginal Australian and Bangladeshi individuals but only a small proportion of Europeans. Smokers with the AA genotype of the IL-10 (G-1082A) SNP which is found predominantly among these two groups had significantly lower levels of IL-10 responses. If cigarette smoke enhances pro-inflammatory responses and reduces anti-inflammatory responses in individuals with these genotypes, this might partly explain the increased susceptibility of Aboriginal Australian infants to infections and SIDS.