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Human population genetics

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. 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

    Content type: Research article

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  2. 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

    Content type: Research article

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  3. 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

    Content type: Research article

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  4. 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

    Content type: Research article

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  5. 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

    Content type: Research article

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  6. 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

    Content type: Research article

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  7. 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

    Content type: Research article

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  8. 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

    Content type: Research article

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  9. 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

    Content type: Research article

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  10. 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

    Content type: Research article

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  11. African Americans have been treated as a representative population for African ancestry for many purposes, including pharmacogenomic studies. However, the contribution of European ancestry is expected to resul...

    Authors: Jing Li, Xingzhen Lao, Chao Zhang, Lei Tian, Dongsheng Lu and Shuhua Xu

    Citation: BMC Genetics 2014 15:52

    Content type: Research article

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  12. This study investigated whether large fluctuations in food availability during grandparents' early development influenced grandchildren's cardiovascular mortality. We reported earlier that changes in availabil...

    Authors: Lars Olov Bygren, Petter Tinghög, John Carstensen, Sören Edvinsson, Gunnar Kaati, Marcus E Pembrey and Michael Sjöström

    Citation: BMC Genetics 2014 15:12

    Content type: Research article

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  13. The archeology and history of the ancient Mediterranean have shown that this sea has been a permeable obstacle to human migration. Multiple cultural exchanges around the Mediterranean have taken place with pre...

    Authors: Candela L Hernández, Guillermo Reales, Jean-Michel Dugoujon, Andrea Novelletto, Juan Nicolás Rodríguez, Pedro Cuesta and Rosario Calderón

    Citation: BMC Genetics 2014 15:11

    Content type: Research article

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  14. Uyghurs are one of the many populations of Central Eurasia that is considered to be genetically related to Eastern and Western Eurasian populations. However, there are some different opinions on the relative i...

    Authors: Abdurahman Ablimit, Wenbei Qin, Wenjuan Shan, Weiwei Wu, Fengjun Ling, Kaitelynn H Ling, Changjie Zhao, Fuchun Zhang, Zhenghai Ma and Xiufen Zheng

    Citation: BMC Genetics 2013 14:100

    Content type: Research article

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  15. Many efforts have been made to detect signatures of positive selection in the human genome, especially those associated with expansion from Africa and subsequent colonization of all other continents. However, ...

    Authors: Srilakshmi M Raj, Luca Pagani, Irene Gallego Romero, Toomas Kivisild and William Amos

    Citation: BMC Genetics 2013 14:87

    Content type: Methodology article

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  16. Cytochrome P450 3A5 (CYP3A5) is an enzyme involved in the metabolism of many therapeutic drugs. CYP3A5 expression levels vary between individuals and populations, and this contributes to adverse clinical outco...

    Authors: Ripudaman K Bains, Mirna Kovacevic, Christopher A Plaster, Ayele Tarekegn, Endashaw Bekele, Neil N Bradman and Mark G Thomas

    Citation: BMC Genetics 2013 14:34

    Content type: Research article

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  17. Extensive genome-wide analyses of many human populations, using microarrays containing hundreds of thousands of single-nucleotide polymorphisms, have provided us with abundant information about global genomic ...

    Authors: Irina N Filippova, Andrey V Khrunin and Svetlana A Limborska

    Citation: BMC Genetics 2012 13:89

    Content type: Research article

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  18. Reconstructing the evolutionary history of a species is challenging. It often depends not only on the past biogeographic and climatic events but also the contemporary and ecological factors, such as current co...

    Authors: Etienne Bezault, Patricia Balaresque, Aboubacar Toguyeni, Yves Fermon, Hitoshi Araki, Jean-François Baroiller and Xavier Rognon

    Citation: BMC Genetics 2011 12:102

    Content type: Research article

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  19. Main waterfowl migration systems are well understood through ringing activities. However, in mallards (Anas platyrhynchos) ringing studies suggest deviations from general migratory trends and traditions in waterf...

    Authors: Robert HS Kraus, Anne Zeddeman, Pim van Hooft, Dmitry Sartakov, Sergei A Soloviev, Ronald C Ydenberg and Herbert HT Prins

    Citation: BMC Genetics 2011 12:99

    Content type: Research article

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  20. The genetic background of Argentineans is a mosaic of different continental ancestries. From colonial to present times, the genetic contribution of Europeans and sub-Saharan Africans has superposed to or repla...

    Authors: María Laura Catelli, Vanesa Álvarez-Iglesias, Alberto Gómez-Carballa, Ana Mosquera-Miguel, Carola Romanini, Alicia Borosky, Jorge Amigo, Ángel Carracedo, Carlos Vullo and Antonio Salas

    Citation: BMC Genetics 2011 12:77

    Content type: Research article

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  21. Population extinction risk in a fragmented landscape is related to the differential ability of the species to spread its genes across the landscape. The impact of landscape fragmentation on plant population dy...

    Authors: An Vanden-Broeck, Robert Gruwez, Karen Cox, Sandy Adriaenssens, Inga M Michalczyk and Kris Verheyen

    Citation: BMC Genetics 2011 12:73

    Content type: Research article

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  22. The Sorbs are an ethnic minority in Germany with putative genetic isolation, making the population interesting for disease mapping. A sample of N = 977 Sorbs is currently analysed in several genome-wide meta-a...

    Authors: Arnd Gross, Anke Tönjes, Peter Kovacs, Krishna R Veeramah, Peter Ahnert, Nab R Roshyara, Christian Gieger, Ina-Maria Rueckert, Markus Loeffler, Mark Stoneking, Heinz-Erich Wichmann, John Novembre, Michael Stumvoll and Markus Scholz

    Citation: BMC Genetics 2011 12:67

    Content type: Research article

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  23. The Mon-Khmer speaking peoples inhabited northern Thailand before the arrival of the Tai speaking people from southern China in the thirteenth century A.D. Historical and anthropological evidence suggests a cl...

    Authors: Wibhu Kutanan, Jatupol Kampuansai, Silvia Fuselli, Supaporn Nakbunlung, Mark Seielstad, Giorgio Bertorelle and Daoroong Kangwanpong

    Citation: BMC Genetics 2011 12:56

    Content type: Research article

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  24. Southern Ocean fauna represent a significant amount of global biodiversity, whose origin may be linked to glacial cycles determining local extinction/eradication with ice advance, survival of refugee populatio...

    Authors: Erica Bortolotto, Ann Bucklin, Massimo Mezzavilla, Lorenzo Zane and Tomaso Patarnello

    Citation: BMC Genetics 2011 12:32

    Content type: Research article

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