PopGen: Population-Based Recruitment of Patients and Controls for the Analysis of Complex Genotype-Phenotype Relationships

Krawczak, Michael; Nikolaus, Susanna; Eberstein, H. von; Croucher, Peter J.P.; Mokhtari, Nour Eddine El; Schreiber, Stefan

doi:10.1159/000090694

Cited by 286 publications

(288 citation statements)

References 31 publications

Supporting

Mentioning

283

Contrasting

Unclassified

Order By: Relevance

“…28 A rare large duplication of the MYH11/ABCC6 locus that was also found in patients with aortic dissections was not analyzed in our study as this CNV has a frequency of about 1/1000 in the normal population. 11 However, such a low frequency does not rule out that this CNV is associated with an increased risk for CeAD. We filtered our findings against CNVs detected by high-density platforms (4500 000 SNPs) in Caucasian individuals.…”

Section: Discussionmentioning

confidence: 98%

“…Affymetrix 6.0 (Affymetrix, Santa Clara, CA, USA) data sets from 1262 white Northern Germans, collected in the PopGen study, 11 were subjected to more stringent quality control criteria (see below), in order to avoid rejection of patients' CNV due to filtering against false positive control findings. 403 of the data sets were selected for the final analyses.…”

Section: Patients and Control Subjectsmentioning

confidence: 99%

See 1 more Smart Citation

Copy number variation in patients with cervical artery dissection

et al. 2012

Self Cite

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 98%

Section: Patients and Control Subjectsmentioning

confidence: 99%

Copy number variation in patients with cervical artery dissection

et al. 2012

Self Cite

View full text Add to dashboard Cite

“…Any medication of subjects from the control group has been considered in statistical analysis. Individuals were obtained from the PopGen biobank 14, 15…”

Section: Methodsmentioning

confidence: 99%

Heart failure is associated with depletion of core intestinal microbiota

Luedde¹,

et al. 2017

View full text Add to dashboard Cite

AimsIn spite of current medical treatment approaches, mortality of chronic heart failure (HF) remains high and novel treatment modalities are thus urgently needed. A recent theory proposes a possible impact of the intestinal microbiome on the incidence and clinical course of heart failure. This study sought to systematically investigate, if there are specific changes of the intestinal microbiome in heart failure patients.Methods and resultsThe intestinal microbiome of 20 patients with heart failure with reduced ejection fraction due to ischemic or dilated cardiomyopathy was investigated by applying high‐throughput sequencing of the bacterial 16S rRNA gene. Microbial profiles were compared to those of matched controls in which heart failure was ruled out by clinical assessment and NT‐proBNP serum levels (n = 20). According to the Shannon diversity index (which measures the intra‐individual alpha‐diversity) based on the distribution of operational taxonomic units (OTUs), HF cases showed a nominally significantly lower diversity index compared to controls (P nom. = 0.01), and testing for genera abundance showed a tendency towards a decreased alpha diversity of HF patients. Beta‐diversity measures (inter‐individual diversity) revealed a highly significant separation of HF cases and controls, (e.g. P weighted UniFracv = 0.004). Assessing the individual abundance of core measurable microbiota (CMM), a significant decrease of Coriobacteriaceae, Erysipelotrichaceae and Ruminococcaceae was observed on the family level. In line with that, Blautia, Collinsella, uncl. Erysipelotrichaceae and uncl. Ruminococcaceae showed a significant decrease in HF cases compared to controls on the genus level.ConclusionsHeart failure patients showed a significantly decreased diversity of the intestinal microbiome as well as a downregulation of key intestinal bacterial groups. Our data point to an altered intestinal microbiome as a potential player in the pathogenesis and progression of heart failure.

show abstract

“…Three hundred fiftyfour (75%) of the LLI were centenarians. The sample of younger German controls was obtained from the popgen biobank 15 and comprised 462 living subjects aged between 19 and 75 years (median age: 59 years). The controls were matched to the LLI in terms of ancestry and gender, thus minimizing any systematic genetic differences between these samples that might arise due to very low levels of undetected population structure.…”

Section: Study Populationmentioning

confidence: 99%

Association of TH01 with human longevity revisited

et al. 2011

Self Cite

View full text Add to dashboard Cite

The gene tyrosine hydroxylase 1 (TH01) has been suggested as a candidate for human longevity. A previous study has shown an association between longevity and specific alleles of the TH01 short tandem repeat (STR) polymorphism in an Italian population. This STR locus is also widely used in forensic genetics. If the TH01-longevity association could be confirmed in independent samples, this finding would have important ramifications for the use of this polymorphism in a forensic context. In the present study, we sought to replicate the previous association result by investigating 471 long-lived individuals (96-110 years) and 462 younger controls (19-75 years) from Germany. In the analyzed samples, the association between TH01 and longevity was not replicated. However, the obtained TH01 allele frequencies were consistent with published data. We observed considerable differences in the allele distribution between Germans and Italians, in particular with regard to allele 9.3, which displayed a previously undetected decreasing West-East and North-South cline across Europe. The discrepant TH01-longevity association results in Germans and Italians could therefore be due to population-specific effects. This finding highlights the need to take into consideration population genetic data when dealing with association studies.

show abstract

PopGen: Population-Based Recruitment of Patients and Controls for the Analysis of Complex Genotype-Phenotype Relationships

Cited by 286 publications

References 31 publications

Copy number variation in patients with cervical artery dissection

Copy number variation in patients with cervical artery dissection

Heart failure is associated with depletion of core intestinal microbiota

Association of TH01 with human longevity revisited

Contact Info

Product

Resources

About