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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
September 27, 2007
Volume 19, No. 13

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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

Genotype and allele frequencies of N-acetyltransferase 2 and glutathione s-transferase in the Iranian population
Torkaman-Boutorabi A, et al.
Clin Exp Pharmacol Physiol 2007 Nov;34(11):1207-11

Organic anion transporting polypeptide-1B1 haplotypes in Chinese patients
Xu LY, et al.
Acta Pharmacol Sin 2007 Oct;28(10):1693-7

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
Godfrey C, et al.
Brain 2007 Sep

Population differences in the human arsenic (+3 oxidation state) methyltransferase (AS3MT) gene polymorphism detected by using genotyping method
Fujihara J, et al.
Toxicol Appl Pharmacol 2007 Aug

 

Infectious and Parasitic Diseases

Common TNF-alpha, IL-1beta, PAI-1, uPA, CD14 and TLR4 polymorphisms are not associated with disease severity or outcome from Gram negative sepsis
Jessen KM, et al.
BMC Infect Dis 2007 Sep;7(1):108

Elevated expression and polymorphisms of SOCS3 influence patient response to antiviral therapy in chronic hepatitis C
Persico M, et al.
Gut 2007 Sep

 

Neoplasms

Haplotype-based analysis of genes associated with risk of adverse skin reactions  after radiotherapy in breast cancer patients
Suga T, et al.
Int J Radiat Oncol Biol Phys 2007 Nov;69(3):685-93

Methotrexate-induced mucositis in acute leukemia patients is not associated with  the MTHFR 677T allele in Mexico
Ruiz-Arguelles GJ, et al.
Hematology 2007 Oct;12(5):387-91

ABCB1 genetic polymorphism and risk of upper aerodigestive tract cancers among smokers, tobacco chewers and alcoholics in an Indian population
Sam SS, et al.
Pharmacogenet Genomics 2007 Oct;17(10):861-6


Increased risk of oral cancer in relation to common Indian mitochondrial polymorphisms and Autosomal GSTP1 locus
Datta S, et al.
Cancer 2007 Sep

The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study
Frank B, et al.
Breast Cancer Res Treat 2007 Sep

Vitamin D receptor haplotypes protect against development of colorectal cancer
Flugge J, et al.
Eur J Clin Pharmacol 2007 Sep

The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma
Yang ZH, et al.
Acta Oncol 2007 Sep:1-6

One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia
Lee KM, et al.
Hum Genet 2007 Sep

Association of polymorphisms of angiogenesis genes with breast cancer
Schneider BP, et al.
Breast Cancer Res Treat 2007 Sep

HDAC10 promoter polymorphism associated with development of HCC among chronic HBV patients
Park BL, et al.
Biochem Biophys Res Commun 2007 Sep

HLA Class II Allele and Haplotype Frequencies in Iranian Patients with Leukemia
Khosravi1 F, et al.
Iran J Allergy Asthma Immunol 2007 Sep;6(3):137-42

 

Endocrine, Nutritional and Metabolic Diseases

Genetic variation in receptor protein tyrosine phosphatase {sigma} is associated  with type 2 diabetes in Swedish Caucasians
Langberg EC, et al.
Eur J Endocrinol 2007 Oct;157(4):459-64

 

Mental Disorders

Brain-derived neurotrophic factor val66met polymorphism affects prefrontal energy metabolism in bipolar disorder
Frey BN, et al.
Neuroreport 2007 Oct;18(15):1567-70

Pharmacokinetic and pharmacodynamic basis for partial protection against alcoholism in Asians, heterozygous for the variant ALDH2*2 gene allele
Peng GS, et al.
Pharmacogenet Genomics 2007 Oct;17(10):845-55

Association study of monoamine oxidase and catechol-O-methyltransferase genes with smoking behavior
Tochigi M, et al.
Pharmacogenet Genomics 2007 Oct;17(10):867-72

Haplotype analysis confirms association of the serotonin transporter (5-HTT) gene with schizophrenia but not with major depression
Zaboli G, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Sep

Interaction between BDNF Val66Met and childhood trauma on adult's violent suicide attempt
Perroud N, et al.
Genes Brain Behav 2007 Sep

d-Amino acid oxidase (DAO) genotype and mood symptomatology in schizophrenia
Corvin A, et al.
Neurosci Lett 2007 Sep

An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia
Jungerius BJ, et al.
Mol Psychiatry 2007 Sep

Failure to confirm allelic and haplotypic association between markers at the chromosome 6p22.3 dystrobrevin-binding protein 1 (DTNBP1) locus and schizophrenia
Datta SR, et al.
Behav Brain Funct 2007 Sep;3(1):50

Extensive Genotyping of the BDNF and NTRK2 Genes Define Protective Haplotypes Against Obsessive-Compulsive Disorder
Alonso P, et al.
Biol Psychiatry 2007 Sep

Gene and Expression Analyses Reveal Enhanced Expression of Pericentrin 2 (PCNT2)  in Bipolar Disorder
Anitha A, et al.
Biol Psychiatry 2007 Sep

 

Diseases of the Nervous System and Sense Organs

The G2019S LRRK2 mutation is uncommon amongst Greek patients with sporadic Parkinson's disease
Kalinderi K, et al.
Eur J Neurol 2007 Oct;14(10):1088-90

Screening of GABA(A)-receptor gene mutations in primary dystonia
Shang H, et al.
Eur J Neurol 2007 Oct;14(10):1179-81


Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition
Lerer E, et al.
Mol Psychiatry 2007 Sep

A polymorphism in the CTGF promoter region associated with systemic sclerosis
Fonseca C, et al.
N Engl J Med 2007 Sep;357(12):1210-20

Estrogen receptor genotype and risk of cognitive impairment in elders: Findings from the Health ABC study
Yaffe K, et al.
Neurobiol Aging 2007 Sep

Apolipoprotein E genotype does not associate with disease severity measured by Multiple Sclerosis Severity Score
Guerrero AL, et al.
Acta Neurol Scand 2007 Sep

Association Between Migraine and the G1246A Polymorphism in the Hypocretin Receptor 2 Gene
Schurks M, et al.
Headache 2007 Sep;47(8):1195-9

Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?
Ghezzi S, et al.
Neurobiol Aging 2007 Sep

CCL5 and CCR5 genotypes modify clinical, radiological and pathological features of multiple sclerosis
van Veen T, et al.
J Neuroimmunol 2007 Sep

 

Diseases of the Circulatory System

No association of the -105 promoter polymorphism of the selenoprotein S encoding  gene SEPS1 with cerebrovascular disease
Hyrenbach S, et al.
Eur J Neurol 2007 Oct;14(10):1173-5

807C/T polymorphism in the platelet glycoprotein Ia gene in young patients with ischemic stroke of undetermined etiology
de Oliveira MH, et al.
Blood Coagul Fibrinolysis 2007 Oct;18(7):599-602

NAD(P)H oxidase p22phox C242T polymorphism and ischemic stroke in Japan: the Fukuoka Stroke Registry and the Hisayama study
Kuroda J, et al.
Eur J Neurol 2007 Oct;14(10):1091-7

Multiple-polymorphism associations of 7 matrix metalloproteinase and tissue inhibitor metalloproteinase genes with myocardial infarction and angiographic coronary artery disease
Horne BD, et al.
Am Heart J 2007 Oct;154(4):751-8

Vitamin K epoxide reductase genetic polymorphism is associated with venous thromboembolism: results from the EDITH Study
Lacut K, et al.
J Thromb Haemost 2007 Oct;5(10):2020-4

Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial
Bhatnagar V, et al.
J Hypertens 2007 Oct;25(10):2082-92

Clinical evaluation of a functional prothrombin time-based assay for identification of factor V Leiden carriers in a group of Italian patients with venous thrombosis
Gessoni G & Valverde S
Blood Coagul Fibrinolysis 2007 Oct;18(7):603-10

Polymorphisms in the tissue factor pathway inhibitor gene are not associated with ischaemic stroke
Sayer MS, et al.
Blood Coagul Fibrinolysis 2007 Oct;18(7):703-8

PPARgamma gene C161T substitution is associated with reduced risk of coronary artery disease and decreased proinflammatory cytokine expression
Liu Y, et al.
Am Heart J 2007 Oct;154(4):718-24

Polymorphisms in the coagulation factor VII gene and risk of primary intracerebral hemorrhage
Greisenegger S, et al.
Eur J Neurol 2007 Oct;14(10):1098-101

Preproghrelin Leu72Met polymorphism in Chinese subjects with coronary artery disease and controls
Tang NP, et al.
Clin Chim Acta 2007 Sep

USF1 Gene Variants, Cardiovascular Risk, and Mortality in European-Americans. Analysis of Two U.S. Cohort Studies
Reiner AP, et al.
Arterioscler Thromb Vasc Biol 2007 Sep

Genes, fat intake, and cardiovascular disease risk factors in the quebec family study
Robitaille J, et al.
Obesity (Silver Spring) 2007 Sep;15(9):2336-47

Low density lipoprotein receptor-related protein polymorphisms are not risk factors for venous thromboembolism
Mello TB, et al.
Thromb Res 2007 Sep

Influence of ScaI and Natriuretic Peptide (NP) Clearance Receptor Polymorphisms of the NP System on NP Concentration in Chronic Heart Failure
Vassalle C, et al.
Clin Chem 2007 Sep

Genetic variants of Complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population
Meng W, et al.
BMC Med Genet 2007 Sep;8(1):62

Association of apolipoprotein E genotypes with lipid levels and coronary risk
Bennet AM, et al.
JAMA 2007 Sep;298(11):1300-11

Iron Stores and HFE Genotypes Are Not Related to Increased Risk of Ischemic Stroke. A Prospective Nested Case-Referent Study
Ekblom K, et al.
Cerebrovasc Dis 2007 Sep;24(5):405-11

Polymorphisms at the Osteoprotegerin and Interleukin-6 Genes in Relation to First-Ever Stroke
Strand M, et al.
Cerebrovasc Dis 2007 Sep;24(5):418-25

 

Diseases of the Respiratory System

Responsiveness to montelukast is associated with bronchial hyperresponsiveness and total immunoglobulin E but not polymorphisms in the leukotriene C4 synthase and cysteinyl leukotriene receptor 1 genes in Korean children with exercise-induced
Lee SY, et al.
Clin Exp Allergy 2007 Oct;37(10):1487-93

Association between candidate genes and lung function growth in Chinese asthmatic children
Leung TF, et al.
Clin Exp Allergy 2007 Oct;37(10):1480-6

{beta}2-Adrenergic receptor genetic polymorphisms and short-term bronchodilator responses in patients with COPD
Hizawa N, et al.
Chest 2007 Sep

Association between genetic variations in prostaglandin E(2) receptor subtype EP3 gene (Ptger3) and asthma in the Korean population
Park HW, et al.
Clin Exp Allergy 2007 Sep

Atopy and new-onset asthma in young Danish farmers and CD14, TLR2, and TLR4 genetic polymorphisms: a nested case-control study
Smit LA, et al.
Clin Exp Allergy 2007 Sep

 

Diseases of the Digestive System

Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease but also ulcerative colitis
Buning C, et al.
Aliment Pharmacol Ther 2007 Oct;26(7):1025-33

Meta-analysis: a functional polymorphism in the gene encoding for activity of the serotonin transporter protein is not associated with the irritable bowel syndrome
VAN Kerkhoven LA, et al.
Aliment Pharmacol Ther 2007 Oct;26(7):979-86

An insertion-deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases
Dideberg V, et al.
Hum Mol Genet 2007 Sep

Association of a CXCL9 polymorphism with pediatric Crohn's disease
Lacher M, et al.
Biochem Biophys Res Commun 2007 Sep

Hyper-reactive PMNs in FcgammaRIIa 131 H/H genotype periodontitis patients
Nicu EA, et al.
J Clin Periodontol 2007 Sep

Evidence of allelic heterogeneity for associations between NOD2/CARD15 gene and ulcerative colitis among North Indians
Juyal G, et al.
Aliment Pharmacol Ther 2007 Sep

Novel mutations in the calcium sensing receptor gene in tropical chronic pancreatitis in India
Murugaian EE, et al.
Scand J Gastroenterol 2007 Sep:1-5

 

Diseases of the Genitourinary System

[Association of osteopontin gene polymorphism with lupus nephritis in Chinese Han population.]
Xu AP, et al.
Nan Fang Yi Ke Da Xue Xue Bao 2007 Sep;27(9):1348-51

Variants in the Plasmacytoma Variant translocation gene (PVT1) are associated with end-stage renal disease attributed to type 1 diabetes
Millis MP, et al.
Diabetes 2007 Sep

Cytokine polymorphisms and risk of infection after kidney transplantation
Rodrigo E, et al.
Transplant Proc 2007 Sep;39(7):2219-21

Effect of apolipoprotein e polymorphism on renal transplantation
Cofan F, et al.

 

Diseases of the Musculoskeletal System and Connective Tissue

Promoter 2 -1025 T/C Polymorphism in the RUNX2 Gene Is Associated with Femoral Neck BMD in Spanish Postmenopausal Women
Bustamante M, et al.
Calcif Tissue Int 2007 Sep

PTHR1 Polymorphisms Influence BMD Variation through Effects on the Growing Skeleton
Vilarino-Guell C, et al.
Calcif Tissue Int 2007 Sep

Associations of killer cell immunoglobulin-like receptor genes with complications of rheumatoid arthritis
Majorczyk E, et al.
Genes Immun 2007 Sep

 

Congenital Anomalies

Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations
Ghebranious N, et al.
Scoliosis 2007 Sep;2(1):13

The Effect of p.Arg25Cys Alteration in NKX2-5 on Conotruncal Heart Anomalies: Mutation or Polymorphism?
Akcaboy MI, et al.
Pediatr Cardiol 2007 Sep

 

Certain Conditions Originating in the Perinatal Period

Variation in the IGF1 gene and growth in foetal life and infancy. The Generation  R Study
Geelhoed JJ, et al.
Clin Endocrinol (Oxf) 2007 Sep

 

Symptoms, Signs and Ill-defined Conditions

Fatigue before and after mild traumatic brain injury: Pre-post-injury comparisons in relation to Apolipoprotein E
Sundstrom A, et al.
Brain Inj 2007 Sep;21(10):1049-54

Common variants in the CRP gene in relation to longevity and cause-specific mortality in older adults: The Cardiovascular Health Study
Hindorff LA, et al.
Atherosclerosis 2007 Sep

 

Injury and Poisoning

Genetic polymorphisms and benzene metabolism in humans exposed to a wide Range of air concentrations
Kim S, et al.
Pharmacogenet Genomics 2007 Oct;17(10):789-801

 

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Page last reviewed: September 27, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics