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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. The disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological...

    Authors: Wen-jing Yang, Ai-zhen Yan, Yong-jun Xu, Xiao-yan Guo, Xian-guo Fu, Dan Li, Juan Liao, Duo Zhang and Feng-hua Lan

    Citation: BMC Genetics 2020 21:63

    Content type: Research article

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  4. Publicly available genome data provides valuable information on the genetic variation patterns across different modern human populations. Neuropeptide genes are crucial to the nervous, immune, endocrine system...

    Authors: Kah Yee Tai, KokSheik Wong, Farhang Aghakhanian, Ishwar S Parhar, Jasbir Dhaliwal and Qasim Ayub

    Citation: BMC Genetics 2020 21:31

    Content type: Research article

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  5. There are large individual differences in physical activity (PA) behavior as well as trainability of physical capacity. Heritability studies have shown that genes may have as much impact on exercise participat...

    Authors: Sannija Goleva-Fjellet, Anne Mari Bjurholt, Elin H. Kure, Inger Kristin Larsen, Øyvind Støren and Mona Sæbø

    Citation: BMC Genetics 2020 21:8

    Content type: Research article

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  6. C-C motif Chemokine Ligand 3 Like 1 (CCL3L1) is a multiallelic copy number variable, which plays a crucial role in immunoregulatory and hosts defense through the production of macrophage inflammatory protein (MIP...

    Authors: Jalilah Jamaluddin, Nur Khairina Mohd Khair, Shameni Devi Vinodamaney, Zulkefley Othman and Suhaili Abubakar

    Citation: BMC Genetics 2020 21:1

    Content type: Research article

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  7. As obesity is becoming pandemic, morbid obesity (MO), an extreme type of obesity, is an emerging issue worldwide. It is imperative to understand the factors responsible for huge weight gain in certain populati...

    Authors: Kuang-Mao Chiang, Heng-Cheng Chang, Hsin-Chou Yang, Chien-Hsiun Chen, Hsin-Hung Chen, Wei-Jei Lee and Wen-Harn Pan

    Citation: BMC Genetics 2019 20:97

    Content type: Research article

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  9. Studies on genetic effects of coffee consumption are scarce for Asian populations. We conducted a genome-wide association study (GWAS) of habitual coffee consumption in Japan using a self-reporting online survey.

    Authors: Huijuan Jia, Shun Nogawa, Kaoru Kawafune, Tsuyoshi Hachiya, Shoko Takahashi, Maki Igarashi, Kenji Saito and Hisanori Kato

    Citation: BMC Genetics 2019 20:61

    Content type: Research article

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  10. Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four G...

    Authors: Frida Lona-Durazo, Natalia Hernandez-Pacheco, Shaohua Fan, Tongwu Zhang, Jiyeon Choi, Michael A. Kovacs, Stacie K. Loftus, Phuong Le, Melissa Edwards, Cesar A. Fortes-Lima, Celeste Eng, Scott Huntsman, Donglei Hu, Enrique Javier Gómez-Cabezas, Lilia Caridad Marín-Padrón, Jonas Grauholm…

    Citation: BMC Genetics 2019 20:59

    Content type: Research article

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  11. Genetic diversity is known to confer survival advantage in many species across the tree of life. Here, we hypothesize that such pattern applies to humans as well and could be a result of higher fitness in indi...

    Authors: Ke Xu, Roman Kosoy, Khader Shameer, Sudhir Kumar, Li Liu, Ben Readhead, Gillian M. Belbin, Hao-Chih Lee, Rong Chen and Joel T. Dudley

    Citation: BMC Genetics 2019 20:52

    Content type: Research article

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  12. An STR locus with tri-allelic pattern is occasionally observed in routine forensic casework. The extra copy of TPOX locus with tri-allelic pattern in populations has been assumed to be inserted into an X chrom...

    Authors: Qinrui Yang, Baonian Liu, Chengchen Shao, Yuxiang Zhou, Yining Yao, Yuyin Pan, Kuan Sun, Hongmei Xu, Chengtao Li, Ting Wei, Yueqin Zhou, Qiqun Tang and Jianhui Xie

    Citation: BMC Genetics 2019 20:18

    Content type: Research article

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  13. Glucocorticoids are commonly used in the clinical setting for their potent anti-inflammatory effects; however, significant variations in response to treatment have been demonstrated. Although the underlying m...

    Authors: Stacey M. Leventhal, Debora Lim, Tajia L. Green, Anna E. Cantrell, Kiho Cho and David G. Greenhalgh

    Citation: BMC Genetics 2019 20:16

    Content type: Research article

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  14. Vacuolar protein sorting-associated protein 4B (VPS4B) is a member of the ATP enzyme AAA protein family, and is mainly involved in protein degradation and cell membrane fusion. Recently, a dominant mutation in...

    Authors: Aiqin Hu, Ting Lu, Danna Chen, Jin Huang, Weiwei Feng, Yanjun Li, Dan Guo, Xiangmin Xu, Dong Chen and Fu Xiong

    Citation: BMC Genetics 2019 20:7

    Content type: Research article

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  15. Association studies are useful to unravel the genetic basis of common human diseases. However, the presence of undetected population structure can lead to both false positive results and failures to detect gen...

    Authors: Alicia Huerta-Chagoya, Hortensia Moreno-Macías, Juan Carlos Fernández-López, María Luisa Ordóñez-Sánchez, Rosario Rodríguez-Guillén, Alejandra Contreras, Alfredo Hidalgo-Miranda, Luis Alberto Alfaro-Ruíz, Edgar Pavel Salazar-Fernandez, Andrés Moreno-Estrada, Carlos Alberto Aguilar-Salinas and Teresa Tusié-Luna

    Citation: BMC Genetics 2019 20:5

    Content type: Research article

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  16. 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

    Content type: Research article

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  17. 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

    Content type: Research article

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  18. 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

    Content type: Research article

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  20. 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

    Content type: Research article

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  21. 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

    Content type: Software

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  22.  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

    Content type: Research article

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  23. 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

    Content type: Research article

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  24. 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

    Content type: Research article

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  25. 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

    Content type: Research article

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  26. 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

    Content type: Research article

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  27. 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

    Content type: Research article

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  28. 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

    Content type: Research article

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  29. 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

    Content type: Research article

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  30. 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

    Content type: Research article

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  31. 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

    Content type: Research article

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  32. 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

    Content type: Research article

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  33. 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

    Content type: Research article

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  34. 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

    Content type: Research article

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  35. 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

    Content type: Research article

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  36. 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

    Content type: Research article

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  37. 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

    Content type: Research article

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  38. 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

    Content type: Research article

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  39. 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

    Content type: Research article

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  40. 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

    Content type: Research article

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  41. 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

    Content type: Research article

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  42. 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

    Content type: Research article

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  43. 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

    Content type: Research article

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  44. 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

    Content type: Research article

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  45. 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

    Content type: Research article

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  46. 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

    Content type: Research article

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  47. 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

    Content type: Research article

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  48. 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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  49. 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

    Content type: Research article

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  50. 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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