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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.
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...
BMC Genetics 2017 18:58
Published on: 23 June 2017
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...
BMC Genetics 2017 18:46
Published on: 19 May 2017
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...
BMC Genetics 2017 18:20
Published on: 7 March 2017
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...
BMC Genetics 2016 17:93
Published on: 27 June 2016
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...
BMC Genetics 2016 17:92
Published on: 24 June 2016
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...
BMC Genetics 2016 17:83
Published on: 17 June 2016
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...
BMC Genetics 2016 17:79
Published on: 13 June 2016
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...
BMC Genetics 2016 17:78
Published on: 13 June 2016
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...
BMC Genetics 2016 17:70
Published on: 28 May 2016
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...
BMC Genetics 2016 17:68
Published on: 26 May 2016
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...
BMC Genetics 2016 17:64
Published on: 4 May 2016
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...
BMC Genetics 2016 17:52
Published on: 9 March 2016
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...
BMC Genetics 2016 17:45
Published on: 19 February 2016
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...
BMC Genetics 2016 17:39
Published on: 11 February 2016
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...
BMC Genetics 2016 17:36
Published on: 9 February 2016
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 ...
BMC Genetics 2016 17:23
Published on: 19 January 2016
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...
BMC Genetics 2015 16:147
Published on: 23 December 2015
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...
BMC Genetics 2015 16:141
Published on: 3 December 2015
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...
BMC Genetics 2015 16:122
Published on: 19 October 2015
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...
BMC Genetics 2015 16:118
Published on: 12 October 2015
The editors of BMC Genetics support initiatives that expedite the peer review process and are happy to consider manuscripts that have been reviewed in Peerage of Science. Please indicate in your cover letter if this applies to your manuscript.
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