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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

    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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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