Human Biology

Book Review: Age Estimation of the Human Skeleton

Oliver Dutour — Thu, 20 Dec 2012 06:55:21 PST

Results of Epidemiological Studies of Blood Pressure Are Biased by Continuous Variation in Arm Size Related to Body Mass

Stanley J. Uluaszek et al. — Thu, 20 Dec 2012 06:55:21 PST

In cross-sectional epidemiological studies, blood pressure (BP) is often found to be positively correlated with fatness. Usually sphygmomanometers with only one cuff size for adults are used to measure BP while arm circumference (AC) influences BP readings. We have studied cross-sectional anthropometric and BP data of adult men and women from three populations: Cook Islanders (n = 259), Papua New Guinean: Purari (n = 295), and Ok Tedi (n = 274). These were selected because of their diverse socio-economic, anthropometric, and BP characteristics. Partial correlations and regressions were used to analyze these data. Systolic and diastolic pressures (SBP, DBP) showed dependence on AC, body mass index (BMI), and skinfold thickness. Stature had some effect on SBP and DBP, independent of BMI and AC. When effects of AC and stature were statistically controlled, BMI did not correlate with either SBP or DBP. People of larger body mass have greater AC, and this biases BP readings. Average values of SBP and DBP in groups of underweight, normal, overweight, and obese people predicted by AC (sex, age, and BMI being statistically controlled) closely matched observed SBP and DBP averages in those groups. Out of 24 pairwise comparisons (3 samples from different populations x 4 groups of BMI x 2 pressure readings) of predicted and actual BP, only two produced statistically significant differences while 21 of the differences were 5 mm Hg or less. Correlations between BP and obesity found in epidemiological studies may be severely biased by effects of variation in AC. Sphygmomanometric measurements of BP should be corrected for continuous variation in AC.

Genetic Susceptibility to Type 2 Diabetes: A Global Meta-Analysis Studying the Genetic Differences in Tunisian Populations

Rym Berhouma et al. — Thu, 20 Dec 2012 06:55:20 PST

The present study is the first meta-analysis to evaluate type 2 diabetes (T2D)– associated polymorphisms in cohorts originated from several Tunisian regions. In fact, we evaluated the effect of seven polymorphisms in the following genes—PPARg (Pro12Ala), TNF° (-308A/G), ENPP1(K121Q), TCF7L2(rs7903146°C/T), MTHFR(C677T), ACE(I/D), and CAPN10(3R/2R)—on T2D risk, through a meta-analysis combining data of previous studies performed on Tunisian populations originating from the north, center, or south of the country. R statistics version 2.12.1 software was used to estimate the heterogeneity between studies. Pooled odds ratios were computed by the fixed-effects method of Mantel-Haenszel if no heterogeneity between studies exists. Despite the similarities founded in a number of loci, the Woolf test reported that the contributions of ENPP1 and ACE loci in T2D risk are dependent on the geographic origin of concerned groups, and this heterogeneity could be attributed not only to the variable contribution of the variant in T2D risk but also to diversities of genetic background between tested groups. Interestingly, observed heterogeneity highlighted founding concerning Y chromosome and the mitochondrial DNA about the genetic structure of Tunisian population and proves once again that Tunisians, like the north-Africans, are a mosaic of subpopulations, with significant differences in genetic structure. In homogeneous groups, we replicated the association of single-nucleotide polymorphisms of TCF7L2, MTHFR, CAPN 10, TNF°, and ACE genes with a T2D risk in the Tunisian population with OR ranging from 1.43 to 6.72. However, we reported an absence of the association of PPARg with T2D in the Tunisian population.

Paternal Lineage Analysis Supports an Armenian Rather Than a Central Asian Genetic Origin of the Hamshenis

Ashot Margaryan et al. — Thu, 20 Dec 2012 06:55:19 PST

The Hamshenis are an isolated geographic group of Armenians with a strong ethnic identity who, until the early decades of the twentieth century, inhabited the Pontus area on the southern coast of the Black Sea. Scholars hold alternative views on their origin, proposing Eastern Armenia, Western Armenia, and Central Asia, respectively, as their most likely homeland. To ascertain whether genetic data from the nonrecombining portion of the Y chromosome are supportive of any of these suggestions, we screened 82 Armenian males of Hamsheni descent for 12 biallelic and 6 microsatellite Y-chromosomal markers. These data were compared with the corresponding data set from the representative populations of the three candidate regions. Genetic difference between the Hamshenis and other groups is significant and backs up the hypothesis of the Armenian origin of the Hamshenis, indicating central historical Armenia as a homeland of the ancestral population. This inference is further strengthened by the results of admixture analysis, which does not support the Central-Asian hypothesis of the Hamshenis’ origin. Genetic diversity values and patterns of genetic distances suggest a high degree of genetic isolation of the Hamshenis consistent with their retention of a distinct and ancient dialect of the Armenian language.

The Genetic Structure of the Kuwaiti Population: mtDNA Inter- and Intra-population Variation

Jasem B. Theyab et al. — Thu, 20 Dec 2012 06:55:18 PST

This study investigated: (1) the mitochondrial DNA (mtDNA) genetic variation in 116 unrelated individuals who originated from the Arabian Peninsula, Iran, or were of Bedouin ethnicity and (2) the genetic structure of Kuwaiti populations and compared it to their neighboring populations. These subpopulations were tested for genetic homogeneity and shown to be heterogeneous. Restriction fragment length polymorphism (RFLP) and mtDNA sequencing analyses of HVRI were used to reconstruct the genetic structure of Kuwait. The results indicated that the combined Kuwaiti population has a high frequency of haplogroup R0 (17%), J (12%), and U (12%) similar to other Arabian populations. In addition, contemporary African gene flow was detected through the presence of sub-haplogroup L (L1 and L2) (2%) and the absence of L3 which is reflective of an earlier migration. Furthermore, the multidimensional scaling (MDS) plot showed that the Kuwaiti population clusters with neighboring populations, including Iran and Saudi Arabia indicating gene flow into Kuwait. According to this study, the Kuwaiti population may be undergoing an expansion in a relatively short period of time, and the maternal genetic structure of Kuwait resembles both Saudi Arabia and Iran.

Genetic Data Suggests that the Jinggouzi People are Associated With the Donghu, an Ancient Nomadic Group of North China

Haijing Wang et al. — Thu, 20 Dec 2012 06:55:18 PST

Nomadic populations have played a significant role in the history of not only China but also in many nations worldwide. Because they had no written language, an important aspect in the study of these people is the discovery of their tombs. It has been generally accepted that Xiongnu was the first empire created by a nomadic tribe in the 3rd century BC. However, little population genetic information is available concerning the Donghu, another flourishing nomadic tribe at the same period because of the restriction of materials until the Jinggouzi site was excavated. In order to test the genetic characteristics of ancient people in this site and to explore the relationship between Jinggouzis and Donghus, two uniparentally inherited markers were analyzed from 42 human remains in this site, which was located in northern China, dated approximately 2500 years ago. With ancient DNA technology, four mtDNA haplogroups (D, G, C, and M10) and one Y chromosome haplogroup (C) were identified using mitochondrial DNA and Y-chromosome single nucleotide polymorphisms. Those haplogroups are common in North Asia and East Asia. The Jinggouzi people were genetically closest to the Xianbeis in ancient populations and to the Oroqens among extant populations, who were all pastoralists. This might indicate that ancient Jinggouzi people were nomads. Meanwhile, according to the genetic data and the evidences in archaeology, we inferred that Jinggouzi people were associated with Donghu. It is of much value to trace the history of the Donghu tribe and this might show some insight into the ancient nomadic society.

PCAdmix: Principal Components-Based Assignment of Ancestry along Each Chromosome in Individuals with Admixed Ancestry from Two or More Populations

Abra Brisbin et al. — Thu, 20 Dec 2012 06:55:17 PST

Identifying ancestry along each chromosome in admixed individuals provides a wealth of information for understanding the population genetic history of admixture events and is valuable for admixture mapping and identifying recent targets of selection. We present PCAdmix (available at https://sites.google.com/site/pcadmix/home), a Principal Componentsbased algorithm for determining ancestry along each chromosome from a high-density, genome-wide set of phased single-nucleotide polymorphism (SNP) genotypes of admixed individuals. We compare our method to HAPMIX on simulated data from two ancestral populations, and we find high concordance between the methods. Our method also has better accuracy than LAMP when applied to three-population admixture, a situation as yet unaddressed by HAPMIX. Finally, we apply our method to a data set of four Latino populations with European, African, and Native American ancestry. We find evidence of assortative mating in each of the four populations, and we identify regions of shared ancestry that may be recent targets of selection and could serve as candidate regions for admixture-based association mapping.

Human Biology Editors — Thu, 20 Dec 2012 06:55:16 PST

Philippe Lefevre-Witier Obituary

Michael H. Crawford — Tue, 25 Sep 2012 06:40:08 PDT

Where Are They Now? An Update on the Career Development of Recent AAAG Student Prize Winners

Human Biology Editors — Tue, 25 Sep 2012 06:40:08 PDT

Book Review: Rethinking Anthropological Persectives on Migration

M. J. Mosher — Tue, 25 Sep 2012 06:40:07 PDT

Rethinking Anthropological Perspectives on Migration, edited by Graciela S. Cabana and Jeffery J. Clark. Gainesville: University of Florida Press, 2011. 362 pp. (ISBN 978-0-8130-3607-6) $79.95 (hardcover).

Letter to the Editor: A Note on the Dependence of Heritability on Variances of Genetic and Environmental Components

Donald W. Zimmerman — Tue, 25 Sep 2012 06:40:06 PDT

Combined Effect of Longevity-Associated Mitochondrial DNA 5178 C/A Polymorphism and Green Tea Consumption on Risk of Hypertension in Middle-Aged Japanese Men

Akatsuki Kokaze et al. — Tue, 25 Sep 2012 06:40:05 PDT

Mitochondrial DNA 5178 cytosine/adenine (Mt5178C/A) polymorphism is reported to be associated with longevity and to modify the effects of alcohol consumption or coffee consumption on the risk of hypertension in the Japanese population. The objective of this study was to investigate whether Mt5178C/A polymorphism modifies the effects of green tea consumption on blood pressure or risk of hypertension in middle-aged Japanese men. A total of 394 male subjects (age, 53.9 plus/minus 7.9 years; mean plus/minus SD) was selected among individuals visiting the hospital for regular medical check-ups. Hypertension was defined as systolic blood pressure (SBP) greater than or equal to 140 mmHg, diastolic blood pressure (DBP) greater than or equal to 90 mmHg, and/or undergoing antihypertensive drug treatment. After adjustment, irrespective of antihypertensive drug treatment, the association between Mt5178C genotype and hypertension was dependent on green tea consumption (P for trend = 0.043 and P for trend = 0.011, respectively). In particular, among subjects greater than or equal to 50 years old with Mt5178C, excluding those taking antihypertensive drugs, a significant association between green tea consumption and risk of hypertension was observed (P for trend = 0.019), and the odds ratio for hypertension was significantly lower in those who consumed greater than or equal to 6 cups of green tea per day than in those who consumed less than or equal to 1 cup per day (odds ratio = 0.167, 95% confidence interval: 0.033 - 0.832). On the other hand, the association between Mt5178A genotype and hypertension did not depend on green tea consumption. No consistent association between green tea consumption and blood pressure was observed in either genotype. The present results suggest a joint effect for Mt5178C/A polymorphism and green tea consumption on the risk of hypertension in middle-aged Japanese men.

A New Mitochondrial C1 Lineage from the Prehistory of Uruguay: Population Genocide, Ethnocide, and Continuity

Monica Sans et al. — Tue, 25 Sep 2012 06:40:04 PDT

Abstract Uruguayan population has been considered as of European descent, as its Native populations victims of genocide apparently disappeared in the 19th century. Contradicting this national belief, genetic studies have shown a substantial Native contribution. However, the continuity between prehistoric, historic, and present populations remains unproved. With the aim of adding elements to prove a possible population continuity, we studied a mitochondrial lineage, part of haplogroup C1, analyzing the complete genome of a modern Uruguayan individual and the hypervariable region I (HVRI) in prehistoric, historic, and contemporary individuals. Several individuals carried the mutations that characterize this lineage: two from an archaeological mound located in the east of the country, the Charrúa Indian chief Vaimaca Perú and five individuals from the present population. The lineage was initially characterized by its HVRI sequence, having the four typical C1 mutations and adding 16051G and 16288C; other mutations were also found: 16140C was found in all but the oldest individual, dated 1,610 years BP, while 16209C, 16422C, and 16519C were found only in some individuals. Hypervariable region II showed the typical C1 mutations and 194T. The coding region, analyzed in modern individuals, was characterized by 12378T, while other mutations found were not common to all of them. In summary, we have found and described a new lineage that shows continuity from prehistoric mound builders to the present population, through a representative of the extinct Charrúa Indians. The lineage appeared at least 1,600 years ago and is carried by approximately 0.7% of the modern Uruguayan population. The continuity of the lineage supports alternative perspectives about Uruguayan national identity and the meaning of the genocide, best labeled as ethnocide because of its consequences. It also contributes to the discussion about who the prehistoric mound builders were, and to the origin, at least in the maternal line, of a Charrúa Indian. From a more general perspective, we can conclude that the characteristics, evolution, and expansion of founder haplogroup C in America have not yet been elucidated.

Distribution of the Lactase Persistence-Associated Variant Alleles -13910T and -13915G among the People of Oman and Yemen

Abdul Rahim Al-Abri et al. — Tue, 25 Sep 2012 06:40:03 PDT

The high prevalence of lactase persistence (LP) among the people of Saudi Arabia is associated with the -13915G variant allele upstream of the lactase gene (LCT). We, therefore, examined the frequency of the commonly known LP associated SNPs among randomly collected samples from Omani and Yemeni adult populations and obtained further data on the distribution of the two most common LP-associated variants, -13910T and -13915TG, in the Arabian Peninsula. The DNA fragment containing all the reported LP- associated SNPs was amplified and genotyped. The frequency of the -13915G allele was highest among Dhofari Arabs of southern Oman (0.72) followed by Yemeni Arabs (0.54) and Arabs of northern Oman (0.14). It was not detected in Omanis of Asian origin. The frequency of the -13910T allele was extremely low in Arabs of northern and southern Oman (0.00 - 0.01) and Yemenis (0.002). However, it had a frequency of 0.160 among Omanis of Asian origin. Results show that the highest frequency of the LCT -13915G variant allele appears to be in the south of the Arabian Peninsula with clinal decrease within the Peninsula and further out in surrounding countries.

General Method to Unravel Ancient Population Structures through Surnames, Final Validation on Italian Data

Alessio Boattini et al. — Tue, 25 Sep 2012 06:40:02 PDT

We analyze the geographic location of 77,451 different Italian surnames (17,579,891 individuals) obtained from the lists of telephone subscribers of the year 1993.

By using a specific neural network analysis (Self-Organizing Maps, SOMs), we automatically identify the geographic origin of 49,117 different surnames. To validate the methodology, we compare the results to a study, previously conducted, on the same database, with accurate supervised methods. By comparing the results, we find an overlap of 97%, meaning that the SOMs methodology is highly reliable and well traces back the geographic origin of surnames at the time of their introduction (Late Middle Ages/Renaissance in Italy).

SOMs results enables one to distinguish monophyletic surnames from polyphyletic ones, that is surnames having had a single geographic and historic origin from those that started to be in use, with an identical spelling, in different locations (respectively, 76.06% and 21.05% of the total). As we are interested in geographic origins, polyphyletic surnames are excluded from further analyses.

By comparing the present location of each monophyletic surname to its inferred geographic origin in late Middle Ages/Renaissance, we measure the extent of the migrations having occurred in Italy since that time. We find that the percentage of individuals presently living in the very area where their surname started to be in use centuries ago is extremely variable (ranging from 22.77% to 77.86% according to the province), thus meaning that self-assessed regional identities seldom correspond to the "autochthony" they imply. For example the upper part of the Thyrennian coast (Northern Latium, Tuscany) has a strong identity but few "autochthonous" inhabitants (28%) having been a passageway from the North to the South of Italy.

Interview with Laura Fortunato, Winner of the 2011 Gabriel W. Lasker Prize

Evelyne Heyer — Tue, 25 Sep 2012 06:40:01 PDT

An international jury composed of Michael Crawford (University of Kansas, USA), Dennis O'Rourke (University of Utah, USA), and Stephen Shennan (University College London, UK) has awarded the Gabriel Ward Lasker Prize 2011 to Dr. Laura Fortunato for her articles entitled "Reconstructing the History of Residence Strategies in Indo-European–Speaking Societies" and "Reconstructing the History of Marriage Strategies in Indo-European–Speaking Societies" considered as the best contribution to the 83rd volume of Human Biology (2011).

Laura Fortunato is an Omidyar Fellow at the Santa Fe Institute in Santa Fe, New Mexico. She received her Ph.D. in anthropology from University College London in 2009; her doctoral research focused on the evolution of kinship and marriage systems. In particular, she has investigated the evolution of marriage strategies, wealth transfers at marriage, residence strategies, and inheritance strategies. Laura's current research activities apply conceptual and methodological tools developed in evolutionary biology to a diverse range of topics in anthropology, from matrilineal kinship organization to cultural evolution.

American Association of Anthropological Genetics (AAAG) News: AGAR Workshop

Human Biology Editors — Thu, 07 Jun 2012 13:49:01 PDT

Early this year, more than 60 molecular anthropologists from across the country gathered in San Antonio, Texas, to hone their technical and analytical skills in the growing field of genomics at the first ever Application of Genomics to Anthropo- logical Research (AGAR) workshop. This two-day workshop, held between January 9th and 10th at the Texas Biomedical Research Institute, was organized by the Education Committee of the American Association of Anthropological Genetics (AAAG) and sought to address the major advantages (and hurdles) related to integration of state-of-the-art genomic data into anthropological studies.

Workshop Announcement: Revisiting the "Negrito" Hypothesis, an Inter-Disciplinary Synthesis of the Prehistory of Southeast Asia

Human Biology Editors — Thu, 07 Jun 2012 13:48:59 PDT

Title: Revisiting the "Negrito" Hypothesis, an Inter-Disciplinary Synthesis of the Prehistory of Southeast Asia.
Date: Paris (France); September 3–5, 2012
Venue: The National Museum of Natural History, Paris, France
Convener: Phillip Endicott, Ph.D.
Website: www.mnhn.fr/mnhn/ecoanthropologie/paris2012negrito/negrito_index.html

Book Review: The Evolution of the Human Head, by Daniel E. Lieberman

Timothy D. Smith — Thu, 07 Jun 2012 13:48:56 PDT

The Evolution of the Human Head (Daniel E. Lieberman) (Reviewed by Timothy D. Smith)