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Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer.

https://arctichealth.org/en/permalink/ahliterature99381
Source
Pharmacogenet Genomics. 2010 Jun;20(6):389-95
Publication Type
Article
Date
Jun-2010
Author
Chen Wu
Binghe Xu
Peng Yuan
Jurg Ott
Yin Guan
Yu Liu
Zhe Liu
Yuanyuan Shen
Dianke Yu
Dongxin Lin
Author Affiliation
The State Key Laboratory of Molecular Oncology, Department of Etiology and Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Source
Pharmacogenet Genomics. 2010 Jun;20(6):389-95
Date
Jun-2010
Language
English
Publication Type
Article
Keywords
Carboplatin - administration & dosage - therapeutic use
Cisplatin - administration & dosage - therapeutic use
Etoposide - administration & dosage
Female
Genes
Genome
Humans
Inuits - genetics
Lung Neoplasms - drug therapy - genetics - pathology
Male
Middle Aged
Nerve Tissue Proteins
Platinum - therapeutic use
Polymorphism, Single Nucleotide
R-SNARE Proteins
Small Cell Lung Carcinoma
Abstract
OBJECTIVES: Small-cell lung cancer (SCLC) accounts for about 20% of total lung cancer, and systemic chemotherapy is the major therapy for all stages of SCLC. Although most SCLC patients are characterized by initial chemosensitivity to the standard first-line platinum-based regimens, a significant fraction of patients are intrinsic nonresponders. METHODS: Genome-wide scan of 440 093 single-nucleotide polymorphisms (SNPs) was conducted using peripheral blood DNA to identify variants associated with response to first-line carboplatin or cisplatin plus etoposide chemotherapy in 245 patients with SCLC and the results were replicated in another set of 183 patients. RESULTS: By set association analysis, 20 SNPs were identified to be associated with treatment response, with odds ratios (95% confidence interval) ranging from 2.36 (1.56-3.57) to 4.38 (2.12-9.29) and these results were confirmed in the replication phase. Most of these SNPs (14/20) were clustered on chromosomes 22p11.23, 6q24.3, and 20p12.2 containing BTBD3, STXBP5, and BCR genes. CONCLUSION: Germline genetic variations influence the effectiveness of platinum-based chemotherapy of SCLC and further studies are needed to test the value of these findings for personalized chemotherapy.
PubMed ID
20463552 View in PubMed
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Increased attributable risk related to a functional mu-opioid receptor gene polymorphism in association with alcohol dependence in central Sweden.

https://arctichealth.org/en/permalink/ahliterature9342
Source
Neuropsychopharmacology. 2005 Feb;30(2):417-22
Publication Type
Article
Date
Feb-2005
Author
Gavin Bart
Mary Jeanne Kreek
Jurg Ott
K Steven LaForge
Dmitri Proudnikov
Lotta Pollak
Markus Heilig
Author Affiliation
The Laboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, NY 10021, USA. bartg@rockefeller.edu
Source
Neuropsychopharmacology. 2005 Feb;30(2):417-22
Date
Feb-2005
Language
English
Publication Type
Article
Keywords
Adult
Aged
Alcoholism - epidemiology - genetics - psychology
Ethnic Groups
Female
Gene Frequency
Genotype
Humans
Male
Middle Aged
Polymorphism, Genetic - genetics
Psychiatric Status Rating Scales
Receptors, Opioid, mu - genetics
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Risk assessment
Sweden - epidemiology
Abstract
The mu-opioid receptor (MOR), through its effects on reward and stress-responsivity, modulates alcohol intake in both animal and human laboratory studies. We have previously demonstrated that the frequently occurring A118G single-nucleotide polymorphism (SNP) in exon 1 of the MORgene (OPRM1), which encodes an amino-acid substitution, is functional and receptors encoded by the variant 118G allele bind the endogenous opioid peptide beta-endorphin with three-fold greater affinity than prototype receptors. Other groups subsequently reported that this variant alters stress-responsivity in normal volunteers and also increases the therapeutic response to naltrexone (a mu-preferring opioid antagonist) in the treatment of alcohol dependence. We compared frequencies of genotypes containing an 118G allele in 389 alcohol-dependent individuals and 170 population-based controls without drug or alcohol abuse or dependence. The A118G SNP was present in the Hardy-Weinberg equilibrium with an overall frequency of the 118G allele of 10.9%. There was a significant overall association between genotypes with an 118G allele and alcohol dependence (p=0.0074). The attributable risk for alcohol dependence in subjects with an 118G allele was 11.1%. There was no difference in A118G genotype between type 1 and type 2 alcoholics. In central Sweden, the functional variant 118G allele in exon 1 of OPRM1 is associated with an increased attributable risk for alcohol dependence.
PubMed ID
15525999 View in PubMed
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Putative susceptibility locus on chromosome 21q for lumbar disc disease (LDD) in the Finnish population.

https://arctichealth.org/en/permalink/ahliterature165384
Source
J Bone Miner Res. 2007 May;22(5):701-7
Publication Type
Article
Date
May-2007
Author
Iita M Virtanen
Noora Noponen
Sandra Barral
Jaro Karppinen
Hong Li
Mirka Vuoristo
Jaakko Niinimäki
Jürg Ott
Leena Ala-Kokko
Minna Männikkö
Author Affiliation
Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland.
Source
J Bone Miner Res. 2007 May;22(5):701-7
Date
May-2007
Language
English
Publication Type
Article
Keywords
ADAM Proteins - genetics
Adolescent
Adult
Aged
Aged, 80 and over
Case-Control Studies
Chromosome Mapping
Chromosomes, Human, Pair 21 - genetics
Female
Finland
Genetic Predisposition to Disease - genetics
Humans
Intervertebral Disc
Linkage Disequilibrium
Lod Score
Lumbar Vertebrae
Male
Middle Aged
Quantitative Trait Loci
Spinal Diseases - genetics
Abstract
In the first linkage study on LDD, a common musculoskeletal disorder, a genome-wide scan was performed on 14 Finnish families. The analysis resulted in identification of a putative susceptibility locus for the disease on chromosome 21.
Lumbar disc disease (LDD) is a common musculoskeletal disorder that affects approximately 5% of the adult population. Several predisposing genetic and environmental risk factors have been identified for symptomatic LDD (i.e., symptomatic disc herniation and/or sciatic pain), but thus far, no common cause has been identified.
Medical history data were collected from 186 members of 14 Finnish families with LDD.
A genome-wide scan resulted in 10 chromosomal regions providing LOD scores >1, and in fine mapping, maximum two-point LOD scores of 2.71, 2.36, and 2.04 were obtained for chromosomes 21 (D21S1257), 4 (D4S399), and 6 (D6S294), respectively. A second fine mapping confirmed the susceptibility of chromosome 21 with a two-point LOD score of 2.06 (D21S1922). In addition, a significant association between LDD and SNP rs716195 was observed (p5.5 cM and contains several interesting genes for further analysis.
PubMed ID
17266399 View in PubMed
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A susceptibility locus for migraine with aura, on chromosome 4q24.

https://arctichealth.org/en/permalink/ahliterature191607
Source
Am J Hum Genet. 2002 Mar;70(3):652-62
Publication Type
Article
Date
Mar-2002
Author
Maija Wessman
Mikko Kallela
Mari A Kaunisto
Pia Marttila
Eric Sobel
Jaana Hartiala
Greg Oswell
Suzanne M Leal
Jeanette C Papp
Eija Hämäläinen
Petra Broas
Geoffrey Joslyn
Iiris Hovatta
Tero Hiekkalinna
Jaakko Kaprio
Jürg Ott
Rita M Cantor
John-Anker Zwart
Matti Ilmavirta
Hannele Havanka
Markus Färkkilä
Leena Peltonen
Aarno Palotie
Author Affiliation
Department of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles 90095-7088, USA.
Source
Am J Hum Genet. 2002 Mar;70(3):652-62
Date
Mar-2002
Language
English
Publication Type
Article
Keywords
Chromosome Mapping
Chromosomes, Human, Pair 4 - genetics
Finland
Genetic Predisposition to Disease
Genome, Human
Humans
Lod Score
Microsatellite Repeats - genetics
Migraine with Aura - genetics
Phenotype
Statistics, nonparametric
Abstract
Migraine is a complex neurovascular disorder with substantial evidence supporting a genetic contribution. Prior attempts to localize susceptibility loci for common forms of migraine have not produced conclusive evidence of linkage or association. To date, no genomewide screen for migraine has been published. We report results from a genomewide screen of 50 multigenerational, clinically well-defined Finnish families showing intergenerational transmission of migraine with aura (MA). The families were screened using 350 polymorphic microsatellite markers, with an average intermarker distance of 11 cM. Significant evidence of linkage was found between the MA phenotype and marker D4S1647 on 4q24. Using parametric two-point linkage analysis and assuming a dominant mode of inheritance, we found for this marker a maximum LOD score of 4.20 under locus homogeneity (P=.000006) or locus heterogeneity (P=.000011). Multipoint parametric (HLOD = 4.45; P=.0000058) and nonparametric (NPL(all) = 3.43; P=.0007) analyses support linkage in this region. Statistically significant linkage was not observed in any other chromosomal region.
Notes
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PubMed ID
11836652 View in PubMed
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