Did-you-know that ...?
Lifestyle has a strong impact on your microbiota. Everything you eat or drink affects your intestinal bacteria, and is likely to have an impact on your health. That is the finding of a large-scale study into the effect of food and medicine on the bacterial diversity in the human gut. Press releases in Dutch and English. in Population-based metagenomics analysis reveals markers for gut microbiome composition and diversity. Zhernakova A, et al. Science. 2016;352(6285):565-9. doi: 10.1126/science.aad3369.
PPI (proton pump inhibitors) use can affect your microbiome. PPI have a greater effect than the use of antibiotics in such studies; PPI interact with infectious diseases; PPI are used to treat heartburn (indigestion) but their use has also been linked to enteric infections, presentation given by Floris Imhann, Heidelberg, June 2015, and published in Proton pump inhibitors affect the gut microbiome. Imhann F, et al. Gut. 2016;65(5):740-8. doi: 10.1136/gutjnl-2015-310376
The Dept of Genetics contributes to courses for students at University College Groningen. See 'Exploring Science and Medical Sciences' and teachers Cisca Wijmenga, Rolf Sijmons and Esther de Haas. Sept. 2014
Population cohort studies are an important data source in studying associations between exposures and health status.
Cohort profile: LifeLines DEEP, a prospective, general population cohort study in the northern Netherlands: study design and baseline characteristics. Tigchelaar EF, et al. BMJ Open. 2015;5(8):e006772. doi: 10.1136/bmjopen-2014-006772
Population genetic analyses demonstrate fine-scale structure across the country and support multiple ancient migrations, consistent with historical changes in sea level and flooding.
On average, an individual carried 60 loss-of-function single-nucleotide variants (SNVs), 69 loss-of-function insertions or deletions (indels) and 15 loss-of-function large deletions. The bulk of these mutations for each individual were common, suggesting that these variants are not subject to strong selective pressure and, although they are protein-truncating mutations, they are likely to be phenotypically benign.
We observed a significant positive correlation between the father’s age at conception and the number of de novo mutations in his offspring.
Whole-genome sequence variation, population structure and demographic history of the Dutch population
The Genome of the Netherlands Consortium, Nature Genetics online, 29 June 2014, doi:10.1038/ng.3021
A database of genetic mutations will offer better detection, diagnosis and prevention for familes with hereditary bowel cancer (Lynch syndrome). Press release Thompson et al., Nature Genetics, 22 Dec 2013 PubMed
The ‘big data’ revolution has given new insight into how diseases develop - more
Systematic identification of trans eQTLs as putative drivers of known disease associations
Harm-Jan Westra, ... Alexandra Zhernakova, Daria V Zhernakova, ... Juha Karjalainen, Sebo Withoff, ... Yang Li, Ritsert C Jansen, ... Lude Franke. Published in Nature Genetics online: 08 September 2013 | doi:10.1038/ng.2756. Abstract
A Facebook group of parents of children with a chromosome 6 disorder are providing information for research into this very rare disorder. See more
Mutations in potassium channels cause cerebellar neurodegeneration
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Duarri A, Jezierska J, Fokkens M, ... Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, ... Wijmenga C, Sinke RJ, Swertz MA ... Verbeek DS. Ann Neurol. 2012 Dec;72(6):870-80. Abstract
SCA23 mouse models develop a mild progressive motor dysfunction. Dineke Verbeek's research group more
Celiac disease and rheumatoid arthritis share 14 genetic risk factors
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci .
Zhernakova A, et al. PloS Genetics 2011;7(2):e1002004. Free PMC article
A gene for heart disease revealed a common Frisian ancestor for 100 affected families
Research by Paul van der Zwaag has discovered that a group of 100 families affected by heart disease have a common Frisian ancestor. See the summary to his PhD thesis (2012). Free PMC articles in Eur J Heart Failure and Neths Heart J
A meta-analysis of Crohn's disease and celiac disease yielded 4 shared genetic risk factors
A meta-analysis of genome wide association scans identifies IL18RAP, PTPN2, TAGAP and PUS10 as shared risk loci for Crohn’s disease and celiac disease .
Festen EA, et al. PloS Genetics 2011;7(1): e1001283 . Free PMC article
A smell test can predict puberty development in CHARGE syndrome?
Anosmia predicts hypogonadotropic hypogonadism in CHA RGE syndrome.
Bergman JEH, Bocca G, Hoefsloot LH, Meiners LC, van Ravenswaaij-Arts CMA. J Pediatr 2011;158(3):474-9. Abstract
By selecting SNPs based on their effect on gene-expression new associations can be found? And that by using this approach we have identified two new genes likely involved in the pathogenesis of Crohn's disease?
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.
Fransen K, et al. Human Molecular Genetics 2010;19(17):3482-3488 Free PMC article
At the moment, there are 40 genes known to contribute to coeliac disease and these explain 40% of the genetic risk
Multiple common variants for celiac disease influencing immune gene expression.
Dubois PC, et al. Nat Genet. 2010 Apr;42(4):295-302. Erratum in: Nat Genet. 2010;42(5):465. Comment in: Nat Genet.; 42(4):281-282. PubMed
A new risk model for complex diseases may lead to improved diagnostic and prevention strategies.
Predicting susceptibility to celiac disease by genetic risk profiling
Romanos J and Wijmenga C, Annals of Gastroenterology and Hepatology, 2010;1(1):11-18
By selecting SNPs based on their effect on gene expression, we can find new associations? And by using this approach we have identified two new genes likely to be involved in the pathogenesis of Crohn's disease?
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. Fransen K, et al. Human Molecular Genetics 2010;19(17):3482-3488 PubMed
The Nollen group have discovered a new gene that regulates the aggregation of Parkinson and Alzheimer proteins?
Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity
Van Ham TJ et al., Cell 2010;142(4):601-612 PubMed
Did you know that gluten intolerance (celiac disease) has a prevalence of 1% in the Dutch population? And that DNA mutations that increase the risk of celiac disease also reduce the risk of having other, serious (bacterial) infections?
Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection
Zhernakova A et al., Am J Hum Genet. 2010;86, 970-977 PubMed
Did you know that cardiac diseases like dilated cardiomyopathy (DCM) and long QT syndrome (= arrhythmia disease) can be familial? Did you know that sudden death in a relative can be a first manifestation of an inherited cardiac disease and that timely treatment can prevent early death?
The importance of the family history in caring for families with Long QT Syndrome and Dilated Cardiomyopathy
Ruiter JS et al., Am J Med Genet A. 2010;152A(3): 607-12. PubMed
Did you know that relatives of someone who died suddenly at a young age have a high chance of the same happening?
And did you know that such a sudden death can be prevented?
Rationale and design of the CAREFUL study: the yield of cardiogenetic screening in first-degree relatives of sudden cardiac and unexpLained death victims <45 years
Hendrix A et al., Neth Heart J. 2010; 18(6): 286-90. PubMed Full text
Women who have a lower reserve of eggs in their ovaries (because they are older or for some other reason such as having had ovarian surgery) may be more at risk of a trisomic pregnancy than women with a normal ovarian reserve.
A reduced size of the ovarian follicle pool is associated with an increased risk of a trisomic pregnancy in IVF-treated women.
Haadsma ML et al., Hum Reprod. 2010 Feb;25(2):552-8. PubMed Press release
Coeliac disease and rheumatoid arthritis, two distinct autoimmune diseases, in fact share many genes
Common and different genetic background for rheumatoid arthritis and coeliac disease.
Coenen MJ et al., Hum Mol Genet. 2009;18(21):4195-203. PubMed
Different mutations in the same gene leading to the same disease could segregate in one part of the gene rather than in others.
Inflammatory bowel disease and celiac disease: overlaps in the pathology and genetics, and their potential drug targets.
Festen EA, Szperl A, et al. Endocr Metab Immune Disord Drug Targets. 2009;9(2):199-218. Review. PubMed
Non-HLA risk factors for celiac disease improve identification of high-risk individuals.
Analysis of HLA and non-HLA alleles can identify individuals at high risk for celiac disease.
Romanos J et al., Gastroenterology. 2009 Sep;137(3):834-40, 840.e1-3. PubMed
The same variant could cause celiac disease in different populations.
Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease.
Romanos J et al. J Med Genet. 2009;46(1):60-3. PubMed
Did you know that DNA is sometimes very unstable?
Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients
Ferreira AM et al., J Pathol. 2009; 219(1): 96-102. PubMed
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