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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
December 20, 2007
Volume 19, No. 24

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These articles report on population prevalence of genotypes, gene-disease associations, gene-environment and gene-gene interactions and evaluation of genetic tests.



Gene Variant Frequency

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis
Gellera C, et al.
Neurogenetics 2007 Dec

Serological Evidence of Thyroid Autoimmunity Among Schoolchildren in Two Different Socio-Economic Environments
Kondrashova A, et al.
J Clin Endocrinol Metab 2007 Dec

HLA-A, -B, -C, -DRB1 and -DQB1 alleles and haplotypes in the Kinh population in Vietnam
Hoa BK, et al.
Tissue Antigens 2007 Dec

 

Infectious and Parasitic Diseases

Hla-Cw7 Allele as Predictor of Favorable Therapeutic Response to Interferon-alpha in Patients with Chronic Hepatitis C
Ivic I, et al.
Croat Med J 2007 Dec;48(6):807-13

Polymorphisms of Killer Cell Immunoglobulin-like Receptor Gene: Possible Association with Susceptibility to or Clearance of Hepatitis B Virus Infection in Chinese Han Population
Zhi-Ming L, et al.
Croat Med J 2007 Dec;48(6):800-6

 

Neoplasms

Potentially functional polymorphisms of EXO1 and risk of lung cancer in a Chinese population: A case-control analysis
Jin G, et al.
Lung Cancer 2007 Dec

CDX2 VDR Polymorphism and Colorectal Cancer
Slattery ML, et al.
Cancer Epidemiol Biomarkers Prev 2007 Dec;16(12):2752-5

Influence of germline polymorphisms of GSTT1, GSTM1, and GSTP1 in familial versus sporadic breast cancer susceptibility and survival
Syamala VS, et al.
Fam Cancer 2007 Dec

Clinical impact of nucleophosmin mutations and Flt3 internal tandem duplications  in patients older than 60 years with acute myeloid leukemia
Scholl S, et al.
Eur J Haematol 2007 Dec

Association of Polymorphisms in TGFB1 and Prostate Cancer Prognosis
Brand TC, et al.
J Urol 2007 Dec

Cancer Risk of Heterozygotes With the NBN Founder Mutation
Seemanova E, et al.
J Natl Cancer Inst 2007 Dec

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk
Jaeger E, et al.
Nat Genet 2007 Dec

Determination of ERCC2 Lys751Gln and GSTP1 Ile105Val gene polymorphisms in colorectal cancer patients: relationships with treatment outcome
Le Morvan V, et al.
Pharmacogenomics 2007 Dec;8(12):1693-703

Germline alterations in the CLSPN gene in breast cancer families
Erkko H, et al.
Cancer Lett 2007 Dec

Conditional likelihood methods for haplotype-based association analysis using matched case-control data
Chen J & Rodriguez C
Biometrics 2007 Dec;63(4):1099-107

Vitamin D receptor polymorphisms and risk of epithelial ovarian cancer
Clendenen TV, et al.
Cancer Lett 2007 Dec

Coding region polymorphisms in the CHFR mitotic stress checkpoint gene are associated with colorectal cancer risk
Kang HC, et al.
Cancer Lett 2007 Dec

NQO1 and NFE2L2 polymorphisms, fruit and vegetable intake and smoking and the risk of colorectal adenomas in an endoscopy-based population
Tijhuis MJ, et al.
Int J Cancer 2007 Dec

Two Genome-wide Association Studies of Aggressive Prostate Cancer Implicate Putative Prostate Tumor Suppressor Gene DAB2IP
Duggan D, et al.
J Natl Cancer Inst 2007 Dec

Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set
Beesley J, et al.
Cancer Epidemiol Biomarkers Prev 2007 Dec;16(12):2557-65

MDM2 Promoter Polymorphism SNP309 Contributes to Tumor Susceptibility: Evidence from 21 Case-Control Studies
Hu Z, et al.
Cancer Epidemiol Biomarkers Prev 2007 Dec;16(12):2717-23

Cytokine Genes and Pain Severity in Lung Cancer: Exploring the Influence of TNF-{alpha}-308 G/A IL6-174G/C and IL8-251T/A
Reyes-Gibby CC, et al.
Cancer Epidemiol Biomarkers Prev 2007 Dec;16(12):2745-51

Leptin concentrations, leptin receptor polymorphisms, and colorectal adenoma risk
Chia VM, et al.
Cancer Epidemiol Biomarkers Prev 2007 Dec;16(12):2697-703

Vitamin d receptor gene polymorphisms and epithelial ovarian cancer risk
Lurie G, et al.
Cancer Epidemiol Biomarkers Prev 2007 Dec;16(12):2566-71

Inherited predisposition of lung cancer: a hierarchical modeling approach to DNA  repair and cell cycle control pathways
Hung RJ, et al.
Cancer Epidemiol Biomarkers Prev 2007 Dec;16(12):2736-44

 

Endocrine, Nutritional and Metabolic Diseases

Alanine variant of the Pro12Ala polymorphism of the PPARgamma gene might be associated with decreased risk of diabetic retinopathy in type 2 diabetes
Malecki MT, et al.
Diabetes Res Clin Pract 2007 Dec

Constitutive nitric oxide synthase gene polymorphisms and house dust mite respiratory allergy in an Algerian patient group
Djidjik R, et al.
Tissue Antigens 2007 Dec

RAGE polymorphisms and type 2 diabetes; The CODAM study
Gaens K, et al.
Ann N Y Acad Sci 2007 Dec

Pancreatitis Risk in Primary Hyperparathyroidism: Relation to Mutations in the SPINK1 Trypsin Inhibitor (N34S) and the Cystic Fibrosis Gene
Felderbauer P, et al.
Am J Gastroenterol 2007 Dec

Relationship between thiolactonase activity and hyperhomocysteinemia according to MTHFR gene polymorphism in Tunisian Behcet's disease patients
Koubaa N, et al.
Clin Chem Lab Med 2007 Dec

 

Diseases of the Blood & Blood-Forming Organ Disorders

Increased frequency of the CTLA-4 49 A/G polymorphism in patients with acquired haemophilia A compared to healthy controls
Pavlova A, et al.
Haemophilia 2007 Dec

 

Mental Disorders

Association of NFKB1, which encodes a subunit of the transcription factor NF-{kappa}B, with Alcohol Dependence
Edenberg HJ, et al.
Hum Mol Genet 2007 Dec

No association between prostate apoptosis response 4 gene (PAWR) in schizophrenia and mood disorders in a japanese population
Kishi T, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Dec

Further evidence for association of GRK3 to bipolar disorder suggests a second disease mutation
Barrett TB, et al.
Psychiatr Genet 2007 Dec;17(6):315-22

The MAOA promoter polymorphism, disruptive behavior disorders, and early onset substance use disorder: gene-environment interaction
Vanyukov MM, et al.
Psychiatr Genet 2007 Dec;17(6):323-32

HTF9C gene of 22q11.21 region associates with schizophrenia having deficit-sustained attention
Liu YL, et al.
Psychiatr Genet 2007 Dec;17(6):333-8

Serotonin transporter polymorphism and borderline or antisocial traits among low-income young adults
Lyons-Ruth K, et al.
Psychiatr Genet 2007 Dec;17(6):339-43

GPR50 is not associated with childhood-onset mood disorders in a large sample of  Hungarian families
Feng Y, et al.
Psychiatr Genet 2007 Dec;17(6):347-50

Genetic analyses of dopamine related genes in adult ADHD patients suggest an association with the DRD5-microsatellite repeat, but not with DRD4 or SLC6A3 VNTRs
Johansson S, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Dec

Association between serotonin transporter genotype and extraversion
Gillihan SJ, et al.
Psychiatr Genet 2007 Dec;17(6):351-4

The -1021 C/T DBH polymorphism is associated with neuropsychological performance  among children and adolescents with ADHD
Kieling C, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Dec

Association study for genes at chromosome 5p13-q11 in attention deficit hyperactivity disorder
Laurin N, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Dec

 

Diseases of the Nervous System and Sense Organs

TNF and sTNFR1/2 plasma levels in ALS patients
Cereda C, et al.
J Neuroimmunol 2007 Dec

APOE, ACT and CHRNA7 genes in the conversion from amnestic mild cognitive impairment to Alzheimer's disease
Barabash A, et al.
Neurobiol Aging 2007 Dec

Genetic evaluation of the serotonergic system in chronic fatigue syndrome
Smith AK, et al.
Psychoneuroendocrinology 2007 Dec

Prospective Mutation Screening of Three Common Deafness Genes in a Large Taiwanese Cohort with Idiopathic Bilateral Sensorineural Hearing Impairment Reveals a Difference in the Results between Families from Hospitals and Those from Rehabilitation
Wu CC, et al.
Audiol Neurootol 2007 Dec;13(3):172-81

A Screening test for the prediction of Dravet syndrome before one year of age
Hattori J, et al.
Epilepsia 2007 Dec

An Apolipoprotein A-I Gene Promoter Polymorphism Associated with Cognitive Decline, but Not with Alzheimer's Disease
Helbecque N, et al.
Dement Geriatr Cogn Disord 2007 Dec;25(2):97-102

No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease
Sanchez-Juan P, et al.
BMC Med Genet 2007 Dec;8(1):77

Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy
De Marco EV, et al.
Mov Disord 2007 Dec

Deletion of CFHR3 and CFHR1 Genes in Age-Related Macular Degeneration
Spencer KL, et al.
Hum Mol Genet 2007 Dec

No association of genetic variants of liver X receptor-beta with alzheimer's disease risk
Rodriguez-Rodriguez E, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Dec

No cross-sectional influence of APOE varepsilon4 dose on clinical tests in Alzheimer's disease
Tractenberg RE, et al.
Neurobiol Aging 2007 Dec

Two polymorphisms of presenilin-2 gene (PSEN2) 5' regulatory region are not associated with Alzheimer's disease (AD) in the Polish population
Gacia M, et al.
J Neural Transm 2007 Dec

The APOE epsilon4 allele increases the risk of impaired spatial working memory in obstructive sleep apnea
Cosentino FI, et al.
Sleep Med 2007 Dec

An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus
Deluca GC, et al.
Proc Natl Acad Sci U S A 2007 Dec

The association between polymorphisms in RLIP76 and drug response in epilepsy
Leschziner GD, et al.
Pharmacogenomics 2007 Dec;8(12):1715-22

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
van Es MA, et al.
Nat Genet 2007 Dec

Haplotype analysis of the IGF2-INS-TH gene cluster in Parkinson's disease
Sutherland G, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Dec

 

Diseases of the Circulatory System

Association of Connexin 37 Gene Polymorphisms with Risk of Coronary Artery Disease in Northern Han Chinese
Han Y, et al.
Cardiology 2007 Dec;110(4):260-5

Monitoring cognitive characteristics in a population with hereditary cerebrovascular disease (CADASIL) in Colombia
Henao-Arboleda E, et al.
Rev Neurol 2007 Dec;45(12):729-33

Variation in the ADIPOQ gene promoter is associated with carotid intima media thickness independent of plasma adiponectin levels in healthy subjects
Patel S, et al.
Eur Heart J 2007 Dec

Study on polymorphism in the apolipoprotein A5 gene in patients with premature coronary heart disease
Yu Y, et al.
Beijing Da Xue Xue Bao 2007 Dec;39(6):576-80

Association of polymorphism in the thermolabile 5, 10-methylene tetrahydrofolate  reductase gene and hyperhomocysteinemia with coronary artery disease
Alam MA, et al.
Mol Cell Biochem 2007 Dec

Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in Japanese individuals
Yamada Y, et al.
J Med Genet 2007 Dec

A419C (E111A) polymorphism of the glyoxalase I gene is associated with vascular complications in chronic hemodialysis patients
Kalousova M, et al.
Ann N Y Acad Sci 2007 Dec

Lack of Association Between the MEF2A Gene and Myocardial Infarction
Lieb W, et al.
Circulation 2007 Dec

 

Diseases of the Respiratory System

Interactive Effect of Paraoxonase-1 Q192R Polymorphism and Smoking History on the Lung Function Decline in Grain Workers
Seo T, et al.
Ann Epidemiol 2007 Dec

IRF-1 Gene Variations Influence IgE Regulation and Atopy
Schedel M, et al.
Am J Respir Crit Care Med 2007 Dec

IL-12Bpro and GSTP1 polymorphisms in association with silicosis
Stanilova S, et al.
Tissue Antigens 2007 Dec

 

Diseases of the Digestive System

Serum Pepsinogen Levels, Helicobacter pylori CagA Status, and Cytokine Gene Polymorphisms Associated with Gastric Premalignant Lesions in Costa Rica
Con SA, et al.
Cancer Epidemiol Biomarkers Prev 2007 Dec;16(12):2631-6

Myosin ixb gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association
Koskinen LL, et al.
J Med Genet 2007 Dec

C314T polymorphism in histamine N-methyltransferase gene and susceptibility to duodenal ulcer in Chinese population
Xu J, et al.
Clin Chim Acta 2007 Dec

 

Diseases of the Genitourinary System

Lack of association between polymorphisms in p53 gene and spermatogenetic failure in a Chinese population
Lu NX, et al.
Andrologia 2007 Dec;39(6):223-8

The LGR8 gene T222P mutation does not cause cryptorchidism
Nuti F, et al.
J Clin Endocrinol Metab 2007 Dec

 

Complications of Pregnancy, Childbirth, and the Puerperium

CTLA-4 polymorphism 49A-G is associated with placental abruption and preeclampsia in Finnish women
Jaaskelainen E, et al.
Clin Chem Lab Med 2007 Dec

Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy
Floreani A, et al.
Dig Liver Dis 2007 Dec

 

Diseases of the Skin and Subcutaneous Tissue

Variants in the 5q31 cytokine gene cluster are associated with psoriasis
Chang M, et al.
Genes Immun 2007 Dec

Filaggrin mutations confer susceptibility to atopic dermatitis but not to asthma
Rogers AJ, et al.
J Allergy Clin Immunol 2007 Dec;120(6):1332-7

 

Diseases of the Musculoskeletal System and Connective Tissue

Effect of matrix metalloproteinase-3 functional SNP on serum matrix metalloproteinase-3 level and outcome measures in Japanese RA patients
Tsukahara S, et al.
Rheumatology (Oxford) 2008 Jan;47(1):41-4

A functional polymorphism of TIR-domain-containing adaptor protein is not associated with axial spondyloarthritis
Cantaert T, et al.
Ann Rheum Dis 2007 Dec

Absence of the mutated Trp2 allele but a common polymorphism of the COL9A2 collagen gene is associated with early recurrence after lumbar discectomy in a German population
Knoeringer M, et al.
Eur Spine J 2007 Dec

Osteonectin/SPARC polymorphisms in Caucasian men with idiopathic osteoporosis
Delany AM, et al.
Osteoporos Int 2007 Dec

Association of methylenetetrahydrofolate reductase genetic polymorphisms with atlantoaxial dislocation
Pradhan M, et al.
J Neurosurg Spine 2007 Dec;7(6):623-30

Protective effect of noninherited maternal HLA-DR antigens on rheumatoid arthritis development
Feitsma AL, et al.
Proc Natl Acad Sci U S A 2007 Dec;104(50):19966-70

Association of Low-Density Lipoprotein Receptor-Related Protein 5 (LRP5) Promoter SNP with Peak Bone Mineral Density in Chinese Women
Cheung CL, et al.
Hum Hered 2007 Dec;65(4):232-9

Replication of reported genetic associations of PADI4, FCRL3, SLC22A4 and RUNX1 genes with rheumatoid arthritis: results of an independent Japanese population and evidence from meta-analysis of East Asian studies
Takata Y, et al.
J Hum Genet 2007 Dec

 

Symptoms, Signs and Ill-defined Conditions

Angiotensin-converting enzyme genotype and successful ascent to extreme high altitude
Thompson J, et al.
High Alt Med Biol 2007 Winter;8(4):278-85

 

 

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Page last reviewed: December 20, 2007 (archived document)
Content Source: National Office of Public Health Genomics