Different Evolutionary Histories of the Coagulation Factor VII Gene in Human Populations?

Athanasiadis, Georgios; Esteban, Esther; Gayà-Vidal, Magdalena; Dugoujon, Jean‐Michel; Moschonas, Nicholas Κ.; Chaabani, Hassen; Bissar-Tadmouri, Nisrine; Harich, Nourdin; Stoneking, Mark; Moral, Pedro

doi:10.1111/j.1469-1809.2009.00557.x

Cited by 5 publications

(11 citation statements)

References 25 publications

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“…The von Willebrand factor D and EGF domains ( VWDE , P iHS = 0.00918, P CLR = 0.07143) a carrier of clotting factor VIII (FVIII), ADAMTS13 (P iHS = 0.00711, P CLR = 0.00736) that cleaves VWDE , and heparan sulfate (glucosamine) 3-O-sulfotransferase 4 ( HS3ST4 , P iHS = 0.00494, P CLR = 0.03597) implicated in negative regulation of blood coagulation show signals of selection. This corresponds with some reports on primates along with human data suggesting potential signatures of positive selection for genes involved in blood clotting pathways [54], [55]. Further research on this group of genes would be required to address potential adaptation of blood coagulation genes in cattle.…”

Section: Resultssupporting

confidence: 88%

Classic Selective Sweeps Revealed by Massive Sequencing in Cattle

et al. 2014

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Human driven selection during domestication and subsequent breed formation has likely left detectable signatures within the genome of modern cattle. The elucidation of these signatures of selection is of interest from the perspective of evolutionary biology, and for identifying domestication-related genes that ultimately may help to further genetically improve this economically important animal. To this end, we employed a panel of more than 15 million autosomal SNPs identified from re-sequencing of 43 Fleckvieh animals. We mainly applied two somewhat complementary statistics, the integrated Haplotype Homozygosity Score (iHS) reflecting primarily ongoing selection, and the Composite of Likelihood Ratio (CLR) having the most power to detect completed selection after fixation of the advantageous allele. We find 106 candidate selection regions, many of which are harboring genes related to phenotypes relevant in domestication, such as coat coloring pattern, neurobehavioral functioning and sensory perception including KIT, MITF, MC1R, NRG4, Erbb4, TMEM132D and TAS2R16, among others. To further investigate the relationship between genes with signatures of selection and genes identified in QTL mapping studies, we use a sample of 3062 animals to perform four genome-wide association analyses using appearance traits, body size and somatic cell count. We show that regions associated with coat coloring significantly (P<0.0001) overlap with the candidate selection regions, suggesting that the selection signals we identify are associated with traits known to be affected by selection during domestication. Results also provide further evidence regarding the complexity of the genetics underlying coat coloring in cattle. This study illustrates the potential of population genetic approaches for identifying genomic regions affecting domestication-related phenotypes and further helps to identify specific regions targeted by selection during speciation, domestication and breed formation of cattle. We also show that Linkage Disequilibrium (LD) decays in cattle at a much faster rate than previously thought.

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Section: Resultssupporting

confidence: 88%

Classic Selective Sweeps Revealed by Massive Sequencing in Cattle

et al. 2014

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“…In the present study, functional variation is represented by 4 SNPs and one insertion/deletion polymorphism from the F7 promoter region[12] and the 46C>T polymorphism (rs1801020) from the 5'-untranslated region in F12 exon 1,[11] also referred to as 'risk' markers. The study also included 5 more SNPs, 3 microsatellites and one SNPSTR from the wider genomic region of the F7 gene,[12] as well as 4 SNPs and 3 microsatellites from the wider genomic region of the F12 gene (Figure 2).…”

Section: Methodsmentioning

confidence: 99%

“…The study also included 5 more SNPs, 3 microsatellites and one SNPSTR from the wider genomic region of the F7 gene,[12] as well as 4 SNPs and 3 microsatellites from the wider genomic region of the F12 gene (Figure 2). These last 16 polymorphisms were located outside of any known genes or regulatory regions and, thus, were considered to be neutral.…”

Section: Methodsmentioning

confidence: 99%

“…variation in and around the F7 gene) were published previously,[12] while new data include neutral variation around the F12 gene and the F12 46C>T functional polymorphism. This extensively studied marker is related to Factor XII plasma levels and the development of thrombosis, although the causal relationship between these two features is questionable[13].…”

Section: Introductionmentioning

confidence: 99%

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The Mediterranean Sea as a barrier to gene flow: evidence from variation in and around the F7 and F12 genomic regions

et al. 2010

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BackgroundThe Mediterranean has a long history of interactions among different peoples. In this study, we investigate the genetic relationships among thirteen population samples from the broader Mediterranean region together with three other groups from the Ivory Coast and Bolivia with a particular focus on the genetic structure between North Africa and South Europe. Analyses were carried out on a diverse set of neutral and functional polymorphisms located in and around the coagulation factor VII and XII genomic regions (F7 and F12).ResultsPrincipal component analysis revealed a significant clustering of the Mediterranean samples into North African and South European groups consistent with the results from the hierarchical AMOVA, which showed a low but significant differentiation between groups from the two shores. For the same range of geographic distances, populations from each side of the Mediterranean were found to differ genetically more than populations within the same side. To further investigate this differentiation, we carried out haplotype analyses, which provided partial evidence that sub-Saharan gene flow was higher towards North Africa than South Europe.ConclusionsAs there is no consensus between the two genomic regions regarding gene flow through the Sahara, it is hard to reach a solid conclusion about its role in the differentiation between the two Mediterranean shores and more data are necessary to reach a definite conclusion. However our data suggest that the Mediterranean Sea was at least partially a barrier to gene flow between the two shores.

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“…Several studies have examined these polymorphisms in patients with venous and arterial thrombosis, but the results are very variable and sometimes contradictory (Athanasiadis et al, 2010;Lopaciuk et al, 2010;Eroğlu et al, 2010Eroğlu et al, , 2011Previtali et al, 2011;Friso et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Lack of association between potential prothrombotic genetic risk factors and arterial and venous thrombosis

Evangelista¹,

Rios²,

Ribeiro³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Recent studies have shown an association between thrombosis and factor VII (FVII), tissue factor (TF), and angiotensinconverting enzyme (ACE). This suggests that individuals with FVII-402 G/A, FVII-401 G/T, TF+5466 A/G, and ACE-287 insertion/ deletion (I/D) polymorphisms present an increased risk of venous thrombosis, heart disease, and ischemic stroke compared with controls. In this study, we investigated the frequencies of these polymorphisms and their association with arterial and venous thrombosis. For the FVII-402 G/A polymorphism, there were 57.3% heterozygote (HT) genotypes and 8.3% homozygote (HM) genotypes in the patients, and 45.2% HT genotypes and 15.4% HM genotypes in the controls. For the FVII-401 G/T polymorphism, there were 37.5% HT genotypes and 3.1% HM genotypes in the patients, and 32.7% HT genotypes and 4.8% HM genotypes in the controls. The polymorphism TF+5466 A/G was not found in any of the samples analyzed. For the ACE-287 I/D polymorphism, there were 43 (40.6%) HT genotypes and 63 (59.4%) HM genotypes in the controls and 28 (45.2%) HT genotypes and 34 (54.8%) HM genotypes in the patients. No significant difference was observed by comparing patients and controls. In this study, no association was found between the presence of the evaluated polymorphisms and the occurrence of thrombotic events.

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Different Evolutionary Histories of the Coagulation Factor VII Gene in Human Populations?

Cited by 5 publications

References 25 publications

Classic Selective Sweeps Revealed by Massive Sequencing in Cattle

Classic Selective Sweeps Revealed by Massive Sequencing in Cattle

The Mediterranean Sea as a barrier to gene flow: evidence from variation in and around the F7 and F12 genomic regions

Lack of association between potential prothrombotic genetic risk factors and arterial and venous thrombosis

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