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Human population genetics

Section edited by Guido Barbujani

This section incorporates all aspects of the genetics of human populations including but not limited to: analysis of populations, languages, and evolutionary genetics.

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  1. Content type: Research article

    African Americans experience disproportionately higher prevalence of type 2 diabetes and related risk factors. Little research has been done on the association of ADIPOQ gene on type 2 diabetes, plasma adiponecti...

    Authors: Sharon K. Davis, Ruihua Xu, Samson Y. Gebreab, Pia Riestra, Amadou Gaye, Rumana J. Khan, James G. Wilson and Aurelian Bidulescu

    Citation: BMC Genetics 2015 16:147

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  2. Content type: Research article

    Asthma is a chronic disease of the airways and, despite the advances in the knowledge of associated genetic regions in recent years, their mechanisms have yet to be explored. Several genome-wide association studi...

    Authors: Gustavo N. O. Costa, Frank Dudbridge, Rosemeire L. Fiaccone, Thiago M. da Silva, Jackson S. Conceição, Agostino Strina, Camila A. Figueiredo, Wagner C. S. Magalhães, Maira R. Rodrigues, Mateus H. Gouveia, Fernanda S. G. Kehdy, Andrea R. V. R. Horimoto, Bernardo Horta, Esteban G. Burchard, Maria Pino-Yanes, Blanca Del Rio Navarro…

    Citation: BMC Genetics 2015 16:141

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  3. Content type: Research article

    Variation in human skin pigmentation evolved in response to the selective pressure of ultra-violet radiation (UVR). Selection to maintain darker skin in high UVR environments is expected to constrain pigmentat...

    Authors: Heather L. Norton, Elizabeth Werren and Jonathan Friedlaender

    Citation: BMC Genetics 2015 16:122

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  4. Content type: Research article

    Time-varying phenotypes have been studied less frequently in the context of genome-wide analyses across ethnicities, particularly for mood disorders. This study uses genome-wide association studies of depressi...

    Authors: Erin B. Ware, Bhramar Mukherjee, Yan V. Sun, Ana V. Diez-Roux, Sharon L.R. Kardia and Jennifer A. Smith

    Citation: BMC Genetics 2015 16:118

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  5. Content type: Research article

    In mice MEOX2/TCF15 heterodimers are highly expressed in heart endothelial cells and are involved in the transcriptional regulation of lipid transport. In a general population, we investigated whether genetic ...

    Authors: Wen-Yi Yang, Thibault Petit, Lutgarde Thijs, Zhen-Yu Zhang, Lotte Jacobs, Azusa Hara, Fang-Fei Wei, Erika Salvi, Lorena Citterio, Simona Delli Carpini, Yu-Mei Gu, Judita Knez, Nicholas Cauwenberghs, Matteo Barcella, Cristina Barlassina, Paolo Manunta…

    Citation: BMC Genetics 2015 16:116

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  6. Content type: Research article

    Multidrug resistance-associated protein 1 (MRP1), encoded by the ABCC1 gene, is an ATP-binding cassette transporter mediating efflux of organic anions and xenobiotics; its overexpression leads to multidrug res...

    Authors: Marcin Słomka, Marta Sobalska-Kwapis, Małgorzata Korycka-Machała, Grzegorz Bartosz, Jarosław Dziadek and Dominik Strapagiel

    Citation: BMC Genetics 2015 16:114

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  7. Content type: Research article

    SLCO1B1 polymorphisms are relevant in statin pharmacokinetics. Aim of this study was to investigate the genetic variability and haplotype profile of SLCO1B1 polymorphisms in Roma and Hungarian populations. Gen...

    Authors: Agnes Nagy, Csilla Sipeky, Renata Szalai, Bela Imre Melegh, Petra Matyas, Alma Ganczer, Kalman Toth and Bela Melegh

    Citation: BMC Genetics 2015 16:108

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  8. Content type: Research article

    The global burden of chronic liver disease is rising. Besides environmental, behavioral, viral and metabolic factors, genetic polymorphisms in patatin-like phospholipase-3 (PNPLA3) and vitamin D receptor (VDR) ge...

    Authors: Ana Cecilia Pontoriero, Julieta Trinks, María Laura Hulaniuk, Mariela Caputo, Lisandro Fortuny, Leandro Burgos Pratx, Analía Frías, Oscar Torres, Félix Nuñez, Adrián Gadano, Pablo Argibay, Daniel Corach and Diego Flichman

    Citation: BMC Genetics 2015 16:93

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  9. Content type: Research article

    The Tarim Basin in western China, known for its amazingly well-preserved mummies, has been for thousands of years an important crossroad between the eastern and western parts of Eurasia. Despite its key positi...

    Authors: Chunxiang Li, Chao Ning, Erika Hagelberg, Hongjie Li, Yongbin Zhao, Wenying Li, Idelisi Abuduresule, Hong Zhu and Hui Zhou

    Citation: BMC Genetics 2015 16:78

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  10. Content type: Research article

    It has been well-established, both by population genetics theory and direct observation in many organisms, that increased genetic diversity provides a survival advantage. However, given the limitations of both...

    Authors: Nathan A Bihlmeyer, Jennifer A Brody, Albert Vernon Smith, Kathryn L Lunetta, Mike Nalls, Jennifer A Smith, Toshiko Tanaka, Gail Davies, Lei Yu, Saira Saeed Mirza, Alexander Teumer, Josef Coresh, James S Pankow, Nora Franceschini, Anish Scaria, Junko Oshima…

    Citation: BMC Genetics 2014 15:159

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  11. Content type: Research article

    Several pathogenesis and genetic factors influence predisposition to antituberculosis drug-induced hepatotoxicity (ATDH) especially for isoniazid (INH). However, the major susceptibility genes for ATDH are N-a...

    Authors: Soukaina Guaoua, Ilham Ratbi, Fatima Zahra Laarabi, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Amina Barkat and Abdelaziz Sefiani

    Citation: BMC Genetics 2014 15:156

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  12. Content type: Research article

    This study investigated whether polymorphisms of the ankyrin repeat and kinase domain containing 1 gene (ANKK1), which is adjacent to the dopamine D2 receptor gene (DRD2), and the dopamine transporter (SLC6A3) an...

    Authors: Masanori Ohmoto, Tatsuo Takahashi, Yoko Kubota, Shinjiro Kobayashi and Yasuhide Mitsumoto

    Citation: BMC Genetics 2014 15:151

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  13. Content type: Research article

    The ancient Silk Road has been a trading route between Europe and Central Asia from the 2nd century BCE to the 15th century CE. While most populations on this route have been characterized, the genetic background...

    Authors: Massimo Mezzavilla, Diego Vozzi, Nicola Pirastu, Giorgia Girotto, Pio d’Adamo, Paolo Gasparini and Vincenza Colonna

    Citation: BMC Genetics 2014 15:131

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  14. Content type: Research article

    Genome-wide association studies have identified variants associated with BMI in populations of European descent. We sought to establish whether genetic variants that are robustly associated with BMI could modu...

    Authors: Manel Nassima Badsi, Sounnia Mediene-Benchekor, Hadjira Ouhaibi-Djellouli, Sarah Aicha Lardjam-Hetraf, Houssam Boulenouar, Djabaria Naïma Meroufel, Xavier Hermant, Imane Hamani-Medjaoui, Nadhira Saidi-Mehtar, Philippe Amouyel, Leila Houti, Aline Meirhaeghe and Louisa Goumidi

    Citation: BMC Genetics 2014 15:128

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  15. Content type: Research article

    Diabetic nephropathy (DN) has become one of the most common causes of end-stage renal disease (ESRD) in many countries, such as 44.5% in Taiwan. Previous studies have shown that there is a genetic component to...

    Authors: Li-Na Liao, Ching-Chu Chen, Fang-Yang Wu, Cheng-Chieh Lin, Jen-Hao Hsiao, Chwen-Tzuei Chang, Sharon LR Kardia, Tsai-Chung Li and Fuu-Jen Tsai

    Citation: BMC Genetics 2014 15:113

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  16. Content type: Research article

    Individual response to medications varies significantly among different populations, and great progress in understanding the molecular basis of drug action has been made in the past 50 years. The field of phar...

    Authors: Jiayi Zhang, Tianbo Jin, Zulfiya Yunus, Xiaolan Li, Tingting Geng, Hong Wang, Yali Cui and Chao Chen

    Citation: BMC Genetics 2014 15:102

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  17. Content type: Research article

    India is home to many ethnically and linguistically diverse populations. It is hypothesized that history of invasions by people from Persia and Central Asia, who are referred as Aryans in Hindu Holy Scriptures...

    Authors: Mohammad Ali, Xuanyao Liu, Esakimuthu Nisha Pillai, Peng Chen, Chiea-Chuen Khor, Rick Twee-Hee Ong and Yik-Ying Teo

    Citation: BMC Genetics 2014 15:86

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  18. Content type: Research article

    Much of the data resolution of the haploid non-recombining Y chromosome (NRY) haplogroup O in East Asia are still rudimentary and could be an explanatory factor for current debates on the settlement history of...

    Authors: Jean A Trejaut, Estella S Poloni, Ju-Chen Yen, Ying-Hui Lai, Jun-Hun Loo, Chien-Liang Lee, Chun-Lin He and Marie Lin

    Citation: BMC Genetics 2014 15:77

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  19. Content type: Research article

    Marfan syndrome (MFS) is a rare autosomal dominantly inherited connective tissue disorder with an estimated prevalence of 1:5,000. More than 1000 variants have been previously reported to be associated with MF...

    Authors: Ren-Qiang Yang, Javad Jabbari, Xiao-Shu Cheng, Reza Jabbari, Jonas B Nielsen, Bjarke Risgaard, Xu Chen, Ahmad Sajadieh, Stig Haunsø, Jesper Hastrup Svendsen, Morten S Olesen and Jacob Tfelt-Hansen

    Citation: BMC Genetics 2014 15:74

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  20. Content type: Research article

    In the present study we have assessed whether the Carpathian Mountains represent a genetic barrier in East Europe. Therefore, we have analyzed the mtDNA of 128 native individuals of Romania: 62 of them from th...

    Authors: Montserrat Hervella, Neskuts Izagirre, Santos Alonso, Mihai Ioana, Mihai G Netea and Concepción de-la-Rua

    Citation: BMC Genetics 2014 15:56

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