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. Research article

    Genetic affinities among the historical provinces of Romania and Central Europe as revealed by an mtDNA analysis

    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...

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

    BMC Genetics 2017 18:20

    Published on: 7 March 2017

  2. Research article

    Monoamine oxidase B gene variants associated with attention deficit hyperactivity disorder in the Indo-Caucasoid population from West Bengal

    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...

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

    BMC Genetics 2016 17:92

    Published on: 24 June 2016

  3. Research article

    Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people

    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...

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

    BMC Genetics 2016 17:83

    Published on: 17 June 2016

  4. Research article

    Rare intronic variants of TCF7L2 arising by selective sweeps in an indigenous population from Mexico

    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...

    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

    BMC Genetics 2016 17:68

    Published on: 26 May 2016

  5. Research article

    CNV analysis in the Lithuanian population

    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...

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

    BMC Genetics 2016 17:64

    Published on: 4 May 2016

  6. Research article

    Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

    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...

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

    BMC Genetics 2016 17:52

    Published on: 9 March 2016

  7. Research article

    The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

    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...

    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

    BMC Genetics 2016 17:45

    Published on: 19 February 2016

  8. Research article

    Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population

    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...

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

    BMC Genetics 2016 17:39

    Published on: 11 February 2016

  9. Research article

    The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

    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...

    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

    BMC Genetics 2016 17:36

    Published on: 9 February 2016

  10. Research article

    Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan

    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 ...

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

    BMC Genetics 2016 17:23

    Published on: 19 January 2016

  11. Research article

    Association of ADIPOQ gene with type 2 diabetes and related phenotypes in African American men and women: the Jackson Heart Study

    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...

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

    BMC Genetics 2015 16:147

    Published on: 23 December 2015

  12. Research article

    A genome-wide association study of asthma symptoms in Latin American children

    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...

    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…

    BMC Genetics 2015 16:141

    Published on: 3 December 2015

  13. Research article

    MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region

    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...

    Heather L. Norton, Elizabeth Werren and Jonathan Friedlaender

    BMC Genetics 2015 16:122

    Published on: 19 October 2015

  14. Research article

    Comparative genome-wide association studies of a depressive symptom phenotype in a repeated measures setting by race/ethnicity in the multi-ethnic study of atherosclerosis

    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...

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

    BMC Genetics 2015 16:118

    Published on: 12 October 2015

  15. Research article

    Coronary risk in relation to genetic variation in MEOX2 and TCF15 in a Flemish population

    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 ...

    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…

    BMC Genetics 2015 16:116

    Published on: 1 October 2015

  16. Research article

    Genetic variation of the ABC transporter gene ABCC1 (Multidrug resistance protein 1 – MRP1) in the Polish population

    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...

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

    BMC Genetics 2015 16:114

    Published on: 23 September 2015

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