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Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping.

ABSTRACT: High-throughput genotyping data are useful for making inferences about human evolutionary history. However, the populations sampled to date are unevenly distributed, and some areas (e.g., South and Central Asia) have rarely been sampled in large-scale studies. To assess human genetic variation more evenly, we sampled 296 individuals from 13 worldwide populations that are not covered by previous studies. By combining these samples with a data set from our laboratory and the HapMap II samples, we assembled a final dataset of ~250,000 SNPs in 850 individuals from 40 populations. With more uniform sampling, the estimate of global genetic differentiation (F(ST)) substantially decreases from ~16% with the HapMap II samples to ~11%. A panel of copy number variations typed in the same populations shows patterns of diversity similar to the SNP data, with highest diversity in African populations. This unique sample collection also permits new inferences about human evolutionary history. The comparison of haplotype variation among populations supports a single out-of-Africa migration event and suggests that the founding population of Eurasia may have been relatively large but isolated from Africans for a period of time. We also found a substantial affinity between populations from central Asia (Kyrgyzstani and Mongolian Buryat) and America, suggesting a central Asian contribution to New World founder populations.

SUBMITTER: Xing J

PROVIDER: S-EPMC2945611 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature

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Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping.

Xing Jinchuan J Watkins W Scott WS Shlien Adam A Walker Erin E Huff Chad D CD Witherspoon David J DJ Zhang Yuhua Y Simonson Tatum S TS Weiss Robert B RB Schiffman Joshua D JD Malkin David D Woodward Scott R SR Jorde Lynn B LB

Genomics 20100716 4

High-throughput genotyping data are useful for making inferences about human evolutionary history. However, the populations sampled to date are unevenly distributed, and some areas (e.g., South and Central Asia) have rarely been sampled in large-scale studies. To assess human genetic variation more evenly, we sampled 296 individuals from 13 worldwide populations that are not covered by previous studies. By combining these samples with a data set from our laboratory and the HapMap II samples, we ...[more]

PMID: 20643205

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Project description:Background: According to epidemiological data, over 450 million people worldwide suffer from mental disorders, presenting one of the major challenges of modern medicine. In their everyday lives, patients, in addition to fighting the disease itself, often struggle with stigmatization. This phenomenon negatively affects both the diagnostic and therapeutic processes, as well as the patients' everyday functioning. This study aimed to assess stigma attitudes toward psychiatry and psychiatric patients among undergraduate medical students. Methods: This study used a Computer-Assisted Web Interview (CAWI), which included the standardized items from the Mental Illness: Clinicians' Attitudes (MICA-2) scale to evaluate stigma. The study was disseminated via the internet to students from medical universities from 65 countries worldwide. Participation was voluntary and anonymous. The study involved 1,216 students from these 65 countries. Most of the sample were women, and most were medical faculty students and students living in cities with more than 500,000 residents. Taking into consideration Gross Domestic Product (GDP) per capita and Human Development Index (HDI) variables, it can be seen that there was a prevalence of medical students from highly developed countries. Results: For the whole sample, the mean MICA-2 score was 40.5 points. Women and medical and nursing students showed more positive attitudes toward psychiatric patients. Students from countries with the highest economic development levels also achieved statistically lower MICA-2 scores. Lower score means a more positive attitude. Conclusion: Stigma toward both psychiatry and psychiatric patients is common among undergraduate medical students. Female students and respondents with a history of mental disorders in countries with high HDI and GDP per capita indices show more favorable attitudes than other medical students. There is a need to further our understanding of the problem of stigmatization, both among the general population and among medical personnel, and to implement and maintain appropriate measures to reduce stigma toward psychiatry.

Dataset Information

Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping.

Publications

Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping.

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