Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use
- Mengzhen Liu, Yu Jiang, S. Vrieze
- MedicineNature Genetics
- 7 November 2018
Evidence is reported for the involvement of many systems in tobacco and alcohol use, including genes involved in nicotinic, dopaminergic, and glutamatergic neurotransmission, which provide a solid starting point to evaluate the effects of these loci in model organisms and more precise substance use measures.
A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
- A. Hemminki, D. Markie, L. Aaltonen
- Biology, MedicineNature
- 8 January 1998
The molecular background of the Peutz–Jeghers syndrome, a rare hereditary disease in which there is predisposition to benign and malignant tumours of many organ systems, is investigated and truncating germline mutations in a gene residing on chromosome 19p are identified.
Genome-wide association study identifies 74 loci associated with educational attainment
- A. Okbay, Jonathan P. Beauchamp, D. Benjamin
- Biology, PsychologyNature
- 31 March 2016
Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses
- A. Okbay, B. Baselmans, D. Cesarini
- PsychologyNature Genetics
- 18 April 2016
Across the phenotypes, loci regulating expression in central nervous system and adrenal or pancreas tissues are strongly enriched for association and the two loci associated with depressive symptoms replicate in an independent depression sample.
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
A genome-wide association study for general cognitive function in 300,486 individuals is performed and genetic loci that implicate neural and cell developmental pathways in this trait are identified.
Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC).
- A. Loukola, K. Eklin, L. Aaltonen
- Medicine, BiologyCancer Research
- 1 June 2001
To test a hypothesis that the use of BAT26 alone is feasible in screening for MLH1/MSH2 mutation-positive HNPCC patients, it is compared the MSI results of 494 colorectal cancer patients obtained using BAT26 with results obtained using the Bethesda markers.
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
- R. Karlsson Linnér, Pietro Biroli, Jonathan P. Beauchamp
- Biology, PsychologyNature Genetics
- 8 January 2019
A genetic study identifies hundreds of loci associated with risk tolerance and risky behaviors, finds evidence of substantial shared genetic influences across these phenotypes, and implicates genes involved in neurotransmission.
Population-based molecular detection of hereditary nonpolyposis colorectal cancer.
- R. Salovaara, A. Loukola, A. de la Chapelle
- Medicine, BiologyJournal of Clinical Oncology
- 11 June 2000
Large-scale molecular screening for HNPCC can be done by the described two-stage procedure of MSI determination followed by mutation analysis, and efficiency can be greatly improved by using three high-risk features to select 22% of all patients for MSI analysis, whereby only 6% need to have mutation analysis.
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability
- A. Riccio, L. Aaltonen, A. Bellacosa
- BiologyNature Genetics
- 1 November 1999
The DNA repair gene MBD4 ( MED1 ) is mutated in human carcinomas with microsatellite instability and its role in DNA repair is unknown.
KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference
- G. Schumann, Chunyu Liu, P. Elliott
- MedicineProceedings of the National Academy of Sciences
- 28 November 2016
It is shown that brain-specific β-Klotho KO mice have an increased alcohol preference and that FGF21 inhibits alcohol drinking by acting on the brain, suggesting that a liver–brain endocrine axis may play an important role in the regulation of alcohol drinking behavior and provide a unique pharmacologic target for reducing alcohol consumption.
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