SELPLG Gene Polymorphisms in Relation to Plasma SELPLG Levels and Coronary Artery Disease

Trégouët, David‐Alexandre; Barbaux, Sandrine; Poirier, Odette; Blankenberg, Stefan; Bickel, Christoph; Escolano, Sylvie; Rupprecht, Hans J.; Meyer, Jürgen; Cambien, François; Tiret, Laurence

doi:10.1046/j.1529-8817.2003.00053.x

Cited by 43 publications

(35 citation statements)

References 33 publications

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“…Haplotype-based analysis may help to differentiate the true effect of an SNP from what is due to its linkage disequilibrium with other variants [Tregouet et al, 2003;Frere et al, 2006]. Haplotypes may serve as better markers for unknown functional variants than SNPs alone, and importantly, they may also define functional units in which the effects cannot be predicted from what is known of the individual effect of each SNP that enters into their combination.…”

Section: Haplotype Analysismentioning

confidence: 98%

Childhood maltreatment, the corticotropin‐releasing hormone receptor gene and adult depression in the general population

Grabe

Schwahn

Appel

et al. 2010

American J of Med Genetics Pt B

103

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Dysregulations of the hypothalamic-pituitary-adrenal (HPA) axis have been implicated in the pathogenesis of depressive disorders and the corticotropin-releasing hormone (CRH) was found to modulate emotional memory consolidation. Recently, two studies have reported an interaction between childhood abuse and the TAT-haplotype of the CRH-Receptor Gene (CRHR1) connecting childhood adversities and genetic susceptibility to adult depression. We tested the hypothesis of an interaction of childhood maltreatment with single nucleotide polymorphisms (SNPs) and haplotypes of the CRHR1 gene not previously investigated. Caucasian subjects (n = 1,638) from the German general population (Study of Health in Pomerania, SHIP) were analyzed. As in the previous studies, childhood abuse and neglect were assessed with the Childhood Trauma Questionnaire (CTQ) and depression with the Beck Depression Inventory (BDI-2). The CRHR1-SNPs were genotyped on the Affymetrix Genome-Wide Human SNP Array 6.0 platform. We identified an interaction between the TAT-haplotype and childhood physical neglect. The interaction with physical neglect showed significant (P < 0.05) results in 23 of the 28 SNPs, with rs17689882 (P = 0.0013) reaching "gene-wide" significance. Although we did not replicate the specific interaction of abuse and the TAT-haplotype of the CRHR1 gene we confirmed the relevance of an interplay between variants within the CRHR1 gene and childhood adversities in the modulation of depression in adults. The largest effect was found for rs17689882, a SNP previously not analyzed. Relevant sample differences between this and prior studies like lower BDI-2 scores, less childhood maltreatment and higher psychosocial functioning may account for the differences in gene-environment interaction findings. © 2010 Wiley-Liss, Inc.

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Section: Haplotype Analysismentioning

confidence: 98%

Childhood maltreatment, the corticotropin‐releasing hormone receptor gene and adult depression in the general population

Grabe

Schwahn

Appel

et al. 2010

American J of Med Genetics Pt B

103

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“…Last, at least 12 intron-breeding repeats identified in our study have been described as variable number of tandem repeats (VNTR) (minisatellites) and hence are highly polymorphic within the human population (28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44). Polymorphisms in the tandem-repeat sequence of the thymidylate synthase gene are used as markers for effectiveness of 5-fluorouracil in cancer patients (42)(43)(44).…”

Section: Discussionmentioning

confidence: 99%

Modern origin of numerous alternatively spliced human introns from tandem arrays

Zhuo

Madden

Elela

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

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Despite the widespread occurrence of spliceosomal introns in the genomes of higher eukaryotes, their origin remains controversial. One model proposes that the duplication of small genomic portions could have provided the boundaries for new introns. If this mechanism has occurred recently, the 5 and 3 boundaries of each resulting intron should display distinctive sequence similarity. Here, we report that the human genome contains an excess of introns with perfect matching sequences at boundaries. One-third of these introns interrupt the protein-coding sequences of known genes. Introns with the best-matching boundaries are invariably found in tandem arrays of direct repeats. Sequence analysis of the arrays indicates that many intron-breeding repeats have disseminated in several genes at different times during human evolution. A comparison with orthologous regions in mouse and chimpanzee suggests a young age for the human introns with the most-similar boundaries. Finally, we show that these human introns are alternatively spliced with exceptionally high frequency. Our study indicates that genomic duplication has been an important mode of intron gain in mammals. The alternative splicing of transcripts containing these intron-breeding repeats may provide the plasticity required for the rapid evolution of new human proteins.evolution ͉ polymorphism ͉ repeats ͉ splicing T he origin of spliceosomal introns and their dissemination in higher eukaryotes are controversial issues. Different mechanisms have been proposed to explain how introns have arisen at different times during eukaryotic evolution (1). Ancestral spliceosomal introns may have evolved from organellar type II introns (2). In a manner similar to type II introns, the transposition of a spliceosomal intron through its reverse splicing into an intronless gene has been proposed as an ancient dissemination mechanism (3). Many spliceosomal introns in higher eukaryotes are considered to be relatively recent (4-6), but there is very little direct evidence for the mechanisms by which they arose. Intron insertion by transposition of a p-SINE1 element has occurred in the rice catalase A gene (7). Likewise, transposon insertion supports the creation of a new intron in the Sh2 gene of maize (8). Reverse splicing and the genomic insertion of transposons have been proposed to explain recent intron gains in nematodes (5, 9). Intron transfer among paralogues is consistent with the distribution of introns in the globin genes of Chironomus (10). The tandem genomic duplication of a portion of coding sequences with an AGGT cryptic splice site was initially proposed by Rogers (11) as a mechanism to produce the boundaries of a new intron. Although this model was rejected almost immediately based on the lack of similarity at the boundaries of introns that were examined, this mechanism was revived 10 years later to explain the origin of introns in several fish genes (12).A new intron can also arise when a known boundary is spliced to a novel junction created by point mutations, as is...

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“…31,35 Haplotype analysis was performed using a 2-step strategy. Haplotype frequencies derived from all the studied polymorphisms were first estimated independently of any phenotype.…”

Section: Discussionmentioning

confidence: 99%

In-Depth Haplotype Analysis of ABCA1 Gene Polymorphisms in Relation to Plasma ApoA1 Levels and Myocardial Infarction

Trégouët

Ricard

Nicaud

et al. 2004

ATVB

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Objective-By regulating the cellular cholesterol efflux from peripheral cells to high-density lipoprotein, the ABCA1 protein is suspected to play a key role in lipid homeostasis and atherosclerosis. Twenty-six polymorphisms of the ABCA1 gene were genotyped and tested for association with plasma levels of ApoA1 and myocardial infarction (MI) in the ECTIM study. Methods and Results-In addition to single-locus analysis, a systematic exploration of all possible haplotype effects was performed, with this exploration being performed on a minimal set of "tag" polymorphisms that define the haplotype structure of the gene. Two polymorphisms were associated with plasma levels of ApoA1, 1 in the promoter (C-564T) and 1 in the coding (R1587K) regions, whereas only 1 polymorphism (R219K) was associated with the risk of MI. However, no haplotype effect was detected on ApoA1 variability or on the risk of MI. Conclusion-ABCA1

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SELPLG Gene Polymorphisms in Relation to Plasma SELPLG Levels and Coronary Artery Disease

Cited by 43 publications

References 33 publications

Childhood maltreatment, the corticotropin‐releasing hormone receptor gene and adult depression in the general population

Childhood maltreatment, the corticotropin‐releasing hormone receptor gene and adult depression in the general population

Modern origin of numerous alternatively spliced human introns from tandem arrays

In-Depth Haplotype Analysis of ABCA1 Gene Polymorphisms in Relation to Plasma ApoA1 Levels and Myocardial Infarction

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