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Human population genetics

Section edited by Shuhua Xu

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

    Levels of sex hormone-binding globulin (SHBG) and the androgen testosterone have been associated with risk of diseases throughout the lifecourse. Although both SHBG and testosterone have been shown to be highl...

    Authors: Ryan Arathimos, Gemma C. Sharp, Raquel Granell, Kate Tilling and Caroline L. Relton

    Citation: BMC Genetics 2018 19:113

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  2. Content type: Research article

    Numerous studies have demonstrated significant differences in the expression level across continental human populations. Most of published results were performed on B-cell lines materials examined under specif...

    Authors: P. Daca-Roszak, M. Swierniak, R. Jaksik, T. Tyszkiewicz, M. Oczko-Wojciechowska, J. Zebracka-Gala, B. Jarzab, M. Witt and E. Zietkiewicz

    Citation: BMC Genetics 2018 19:54

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  3. Content type: Research article

    Electrical status epilepticus during slow-wave sleep (ESESS) which is also known as continuous spike-wave of slow sleep (CSWSS) is type of electroencephalographic (EEG) pattern which is seen in ESESS/CSWSS/epi...

    Authors: Miriam Kessi, Jing Peng, Lifen Yang, Juan Xiong, Haolin Duan, Nan Pang and Fei Yin

    Citation: BMC Genetics 2018 19:40

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  4. Content type: Research article

    Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based ...

    Authors: Roman Shraga, Sarah Yarnall, Sonya Elango, Arun Manoharan, Sally Ann Rodriguez, Sara L. Bristow, Neha Kumar, Mohammad Niknazar, David Hoffman, Shahin Ghadir, Rita Vassena, Serena H. Chen, Avner Hershlag, Jamie Grifo and Oscar Puig

    Citation: BMC Genetics 2017 18:99

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  5. Content type: Software

    Inferring local ancestry in individuals of mixed ancestry has many applications, most notably in identifying disease-susceptible loci that vary among different ethnic groups. Many software packages are availab...

    Authors: Daniel Hui, Zhou Fang, Jerome Lin, Qing Duan, Yun Li, Ming Hu and Wei Chen

    Citation: BMC Genetics 2017 18:83

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  6. Content type: Research article

     Recent genetic studies based on genome-wide Single Nucleotide Polymorphism (SNP) data further investigated the history of Roma and suggested that the source of South Asian ancestry in Roma originates most lik...

    Authors: Bela I. Melegh, Zsolt Banfai, Kinga Hadzsiev, Attila Miseta and Bela Melegh

    Citation: BMC Genetics 2017 18:82

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  7. Content type: Research article

    Circadian rhythms regulate key biological processes and the dysregulation of the intrinsic clock mechanism affects sleep patterns and obesity onset. The CLOCK (circadian locomotor output cycles protein kaput) gen...

    Authors: Pia Riestra, Samson Y Gebreab, Ruihua Xu, Rumana J Khan, Amadou Gaye, Adolfo Correa, Nancy Min, Mario Sims and Sharon K Davis

    Citation: BMC Genetics 2017 18:58

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  8. Content type: Research article

    The structure of haplogroup H reveals significant differences between the western and eastern edges of the Mediterranean, as well as between the northern and southern regions. Human populations along the weste...

    Authors: Candela L. Hernández, Jean M. Dugoujon, Andrea Novelletto, Juan N. Rodríguez, Pedro Cuesta and Rosario Calderón

    Citation: BMC Genetics 2017 18:46

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  9. Content type: Research article

    As a major crossroads between Asia and Europe, Romania has experienced continuous migration and invasion episodes. The precise routes may have been shaped by the topology of the territory and had diverse impac...

    Authors: Relu Cocoş, Sorina Schipor, Montserrat Hervella, Petru Cianga, Roxana Popescu, Claudia Bănescu, Mihai Constantinescu, Alina Martinescu and Florina Raicu

    Citation: BMC Genetics 2017 18:20

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  10. Content type: Research article

    There are different genetic patterns for cardio-metabolic parameters among different populations. Additionally, it has been found that ancestral genetic components (the proportion of Amerindian, European and A...

    Authors: Angélica M. Muñoz, Claudia M. Velásquez and Gabriel Bedoya

    Citation: BMC Genetics 2016 17:93

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  11. Content type: Research article

    Attention deficit hyperactivity disorder (ADHD) is characterized by symptoms of inattention, excessive motor activity and impulsivity detected mostly during childhood. These traits are known to be controlled b...

    Authors: Arijit Karmakar, Subhamita Maitra, Barnali Chakraborti, Deepak Verma, Swagata Sinha, Kochupurackal P. Mohanakumar, Usha Rajamma and Kanchan Mukhopadhyay

    Citation: BMC Genetics 2016 17:92

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  12. Content type: Research article

    Previously, it was shown that the HFE gene (associated with human hereditary hemochromatosis) has several haplotypes of intronic polymorphisms. Some haplotype frequencies are race specific and hence can be used i...

    Authors: S. V. Mikhailova, V. N. Babenko, D. E. Ivanoshchuk, M. A. Gubina, V. N. Maksimov, I. G. Solovjova and M. I. Voevoda

    Citation: BMC Genetics 2016 17:83

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  13. Content type: Research article

    Genome-wide association studies of obesity have typically assumed fixed genetic effects across ethnicities, rarely attempting to thoroughly compare and contrast findings across various ethnic groups. Therefore...

    Authors: Yasmmyn D. Salinas, Leyao Wang and Andrew T. DeWan

    Citation: BMC Genetics 2016 17:78

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  14. Content type: Research article

    To investigate the associations between atorvastatin-induced liver injury (AILI) and polymorphisms in eight genes possibly involved in the hepatic metabolism (CYP2C9, CYP2C19, CYP3A4, CYP3A5 and UGT1A1) and membr...

    Authors: Koya Fukunaga, Hiroshi Nakagawa, Toshihisa Ishikawa, Michiaki Kubo and Taisei Mushiroda

    Citation: BMC Genetics 2016 17:79

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  15. Content type: Research article

    Within a population, the differences of pharmacogenomic variant frequencies may produce diversities in drug efficacy, safety, and the risk associated with adverse drug reactions. With the development of pharma...

    Authors: Tianbo Jin, Xugang Shi, Li Wang, Huijuan Wang, Tian Feng and Longli Kang

    Citation: BMC Genetics 2016 17:70

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  16. Content type: Research article

    Genetic variations of the TCF7L2 gene are associated with the development of Type 2 diabetes (T2D). The associated mutations have demonstrated an adaptive role in some human populations, but no studies have de...

    Authors: Jose Luis Acosta, Alma Cristal Hernández-Mondragón, Laura Carolina Correa-Acosta, Sandra Nathaly Cazañas-Padilla, Berenice Chávez-Florencio, Elvia Yamilet Ramírez-Vega, Tulia Monge-Cázares, Carlos A. Aguilar-Salinas, Teresa Tusié-Luna and Laura del Bosque-Plata

    Citation: BMC Genetics 2016 17:68

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  17. Content type: Research article

    Although copy number variation (CNV) has received much attention, knowledge about the characteristics of CNVs such as occurrence rate and distribution in the genome between populations and within the same popu...

    Authors: A. Urnikyte, I. Domarkiene, S. Stoma, L. Ambrozaityte, I. Uktveryte, R. Meskiene, V. Kasiulevičius, N. Burokiene and V. Kučinskas

    Citation: BMC Genetics 2016 17:64

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  18. Content type: Research article

    Multiple osteochondroma (MO) is an autosomal dominant skeletal disorder characterized by the formation of multiple osteochondromas, and exostosin-1 (EXT1) and exostosin-2 (EXT2) are major causative genes in MO. I...

    Authors: Daichi Ishimaru, Masanori Gotoh, Shinichiro Takayama, Rika Kosaki, Yoshihiro Matsumoto, Hisashi Narimatsu, Takashi Sato, Koji Kimata, Haruhiko Akiyama, Katsuji Shimizu and Kazu Matsumoto

    Citation: BMC Genetics 2016 17:52

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  19. Content type: Research article

    Congenital hearing loss (CHL) is diagnosed in 1 – 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the GJB2 gene located in the DFNB1 locus (13q1...

    Authors: Violeta Mikstiene, Audrone Jakaitiene, Jekaterina Byckova, Egle Gradauskiene, Egle Preiksaitiene, Birute Burnyte, Birute Tumiene, Ausra Matuleviciene, Laima Ambrozaityte, Ingrida Uktveryte, Ingrida Domarkiene, Tautvydas Rancelis, Loreta Cimbalistiene, Eugenijus Lesinskas, Vaidutis Kucinskas and Algirdas Utkus

    Citation: BMC Genetics 2016 17:45

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  20. Content type: Research article

    Nonsyndromic orofacial clefts are one of the most common birth defects worldwide. It occurs as a result of genetic or environmental factors. This study investigates the genetic contribution to nonsyndromic cle...

    Authors: Nurul Syazana Mohamad Shah, Iman Salahshourifar, Sarina Sulong, Wan Azman Wan Sulaiman and Ahmad Sukari Halim

    Citation: BMC Genetics 2016 17:39

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  21. Content type: Research article

    Multiple familial trichoepithelioma type 1 (MFT1; MIM 601606), a rare monogenic skin disease with autosomal dominant inheritance, is characterized by the development of multiple skin-colored papules on the cen...

    Authors: Katalin Farkas, Barbara Kocsis Deák, Laura Cubells Sánchez, Ana Mercedes Victoria Martínez, Juan José Vilata Corell, Alfredo Montoro Botella, Goitzane Marcaida Benito, Raquel Rodríguez López, Tomas Vanecek, Dmitry V. Kazakov, Joan N. R. Kromosoeto, Ans M. W. van den Ouweland, János Varga, Márta Széll and Nikoletta Nagy

    Citation: BMC Genetics 2016 17:36

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  22. Content type: Research article

    Studies of genes involved in the absorption, distribution, metabolism, and excretion (ADME) of drugs are crucial to the development of therapeutics in clinical medicine. Such data provide information that may ...

    Authors: Aisha N. Iskakova, Aliya A. Romanova, Akbota M. Aitkulova, Nurgul S. Sikhayeva, Elena V. Zholdybayeva and Erlan M. Ramanculov

    Citation: BMC Genetics 2016 17:23

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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. Content type: Research article

    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

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  44. Content type: Research article

    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

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  45. Content type: Research article

    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

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  46. Content type: Research article

    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

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  47. Content type: Methodology article

    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

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  48. Content type: Research article

    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

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  49. Content type: Research article

    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

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