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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 8, 2007
Volume 18, No. 6

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Many of the news links published in our Weekly Update are temporary, and we cannot guarantee access to stories longer than one or two weeks after the Update is published. We suggest you contact the news source directly for reprints.

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

Comprehensive evaluation of allele frequency differences of MC1R variants across populations
Gerstenblith MR, et al.
Hum Mutat 2007 Feb

 

Infectious and Parasitic Diseases

Cytochrome P450 polymorphisms in patients with Behcet's disease
Tursen U, et al.
Int J Dermatol 2007 Feb;46(2):153-6

 

Neoplasms

Combined analysis of genetic polymorphisms in thymidylate synthase, uridine diphosphate glucoronosyltransferase and X-ray cross complementing factor 1 genes as a prognostic factor in advanced colorectal cancer patients treated with 5-fluorouracil plus oxa
Martinez-Balibrea E, et al.
Oncol Rep 2007 Mar;17(3):637-45

Genetic polymorphism and gene expression of microsomal epoxide hydrolase in non-small cell lung cancer
Lin TS, et al.
Oncol Rep 2007 Mar;17(3):565-72

Genetic variation in base excision repair genes and the prevalence of advanced colorectal
adenoma

Berndt SI, et al.
Cancer Res 2007 Feb;67(3):1395-404

Alcohol metabolism, alcohol intake, and breast cancer risk: a sister-set analysis using the Breast Cancer Family Registry
Terry MB, et al.
Breast Cancer Res Treat 2007 Feb

Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk
Vaclavicek A, et al.
Breast Cancer Res Treat 2007 Feb

Estrogen receptor alpha haplotypes and breast cancer risk in older Caucasian women
Wang J, et al.
Breast Cancer Res Treat 2007 Feb

Analysis of polymorphism at site -174 G/C of interleukin-6 promoter region in multiple myeloma
Duch CR, et al.
Braz J Med Biol Res 2007 Feb;40(2):265-7

A population-based association study of SNPs of GSTP1, MnSOD, GPX2 and Barrett's esophagus and esophageal adenocarcinoma
Murphy S, et al.
Carcinogenesis 2007 Feb

Inducible nitric oxide synthase gene promoter polymorphism is associated with increased gastric mRNA expression of inducible nitric oxide synthase and increased risk of gastric carcinoma
Kaise M, et al.
Eur J Gastroenterol Hepatol 2007 Feb;19(2):139-45

Interleukin-1 genetic polymorphisms and their relationship to the cancer anorexia/weight loss syndrome in metastatic gastric and gastroesophageal junction adenocarcinoma
Jatoi A, et al.
J Support Oncol 2007 Jan;5(1):41-6

XRCC1 and XPD Polymorphisms and Esophageal Adenocarcinoma Risk
Liu G, et al.
Carcinogenesis 2007 Jan

The ADRB3 Trp64Arg variant and obesity in African-American breast cancer cases
McKean-Cowdin R, et al.
Int J Obes (Lond) 2007 Jan

Ancestry and pharmacogenetics of antileukemic drug toxicity
Kishi S, et al.
Blood 2007 Jan

TGFBR2 mutation is correlated with CpG island methylator phenotype in microsatellite instability-high colorectal cancer
Ogino S, et al.
Hum Pathol 2007 Jan

Glutathione S-transferase gene polymorphisms and risk and survival of pancreatic cancer
Jiao L, et al.
Cancer 2007 Jan

 

Endocrine, Nutritional and Metabolic Diseases

SAH gene variants are associated with obesity-related hypertension in Caucasians: the PEGASE Study
Telgmann R, et al.
J Hypertens 2007 Mar;25(3):557-64

Genetic variation in estrogen receptor, C-reactive protein and fibrinogen does not predict the plasma levels of inflammation markers after longterm hormone replacement therapy
de Maat MP, et al.
Thromb Haemost 2007 Feb;97(2):234-9

Candidate gene association study of type 2 diabetes in a nested case-control study of the EPIC-Potsdam cohort - Role of fat assimilation
Fisher E, et al.
Mol Nutr Food Res 2007 Feb;51(2):185-91

Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease
Folhoffer A, et al.
Eur J Gastroenterol Hepatol 2007 Feb;19(2):105-11

High Frequency of a Retinoid X Receptor {gamma} Gene Variant in Familial Combined Hyperlipidemia That Associates With Atherogenic Dyslipidemia
Nohara A, et al.
Arterioscler Thromb Vasc Biol 2007 Feb

Physical Activity, Diet, and Incident Diabetes in Relation to an ADRA2B Polymorphism
Laaksonen DE, et al.
Med Sci Sports Exerc 2007 Feb;39(2):227-32

CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden
Mayans S, et al.
BMC Med Genet 2007 Feb;8(1):3

MEFV Mutations in Tunisian Patients Suffering from Familial Mediterranean Fever
Chaabouni HB, et al.
Semin Arthritis Rheum 2007 Feb

Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men
Dhillon VS, et al.
Mol Hum Reprod 2007 Feb

Quantitative effects of common genetic variations in the 3'UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study
Muallem H, et al.
Hum Genet 2007 Feb

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
Wilson RC, et al.
Mol Genet Metab 2007 Jan

Leu7Pro polymorphism of PreproNPY associated with an increased risk for type II diabetes in middle-aged subjects
Ukkola O & Kesaniemi YA
Eur J Clin Nutr 2007 Jan

Preliminary evidence of glycogen synthase kinase 3 beta as a genetic determinant of polycystic ovary syndrome
Goodarzi MO, et al.
Fertil Steril 2007 Jan

-759 C/T polymorphism of 5-HT2C receptor gene and early phase weight gain associated with antipsychotic drug treatment
Ryu S, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2007 Jan

The angiotensin II type 2 receptor gene polymorphism and body mass index in healthy Japanese women
Kotani K, et al.
Ann Clin Biochem 2007;44(1):83-5

 

Diseases of the Blood & Blood-Forming Organ Disorders

Polymorphisms in the CTLA-4 gene and inhibitor development in patients with severe hemophilia A
Astermark J, et al.
J Thromb Haemost 2007 Feb;5(2):263-5

 

Mental Disorders

A Genetic Family-Based Association Study of OLIG2 in Obsessive-compulsive Disorder
Stewart SE, et al.
Arch Gen Psychiatry 2007 Feb;64(2):209-14

Association of the Adrenergic {alpha}2A Receptor Gene With Methylphenidate Improvement of Inattentive Symptoms in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder
Polanczyk G, et al.
Arch Gen Psychiatry 2007 Feb;64(2):218-24

Dysbindin associated with selective serotonin reuptake inhibitor antidepressant efficacy
Pae CU, et al.
Pharmacogenet Genomics 2007 Jan;17(1):69-75

The met(158) allele of catechol-O-methyltransferase (COMT) is associated with obsessive-compulsive disorder in men: case-control study and meta-analysis
Pooley EC, et al.
Mol Psychiatry 2007 Jan

No association between the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and schizophrenia in Asian populations: Evidence from a case-control study and meta-analysis
Naoe Y, et al.
Neurosci Lett 2007 Jan

Dopamine transporter polymorphisms are associated with short-term response to smoking cessation treatment
O'gara C, et al.
Pharmacogenet Genomics 2007 Jan;17(1):61-7

COMT Val158Met polymorphism and schizophrenia in a series of Spanish patients
Diez-Martin J, et al.
Med Clin (Barc) 2007 Jan;128(2):41-4

No association between the ERBB3 gene and schizophrenia in a Japanese population
Watanabe Y, et al.
Neurosci Res 2007 Jan

 

Diseases of the Nervous System and Sense Organs

Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) Mutations
Josephs KA, et al.
J Neuropathol Exp Neurol 2007 Feb;66(2):142-51

Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia
Liang CL, et al.
J Hum Genet 2007 Feb

ApoE-epsilon4 is associated with reduced memory in long-standing intractable temporal lobe epilepsy
Busch RM, et al.
Neurology 2007 Feb;68(6):409-14

Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population Impact on the newborn hearing screening
Gravina LP, et al.
Int J Pediatr Otorhinolaryngol 2007 Feb

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy
Williams DR, et al.
Mov Disord 2007 Feb

Association of apolipoprotein e genotype and cerebral palsy in children
Kuroda MM, et al.
Pediatrics 2007 Feb;119(2):306-13

Angiotensin-converting enzyme I/D polymorphism and macrovascular disease in systemic sclerosis
Bartoli F, et al.
Rheumatology (Oxford) 2007 Jan

Linkage and association analysis of CACNG3 in childhood absence epilepsy
Everett KV, et al.
Eur J Hum Genet 2007 Jan

Tumor Necrosis Factor-alpha-308 Gene Polymorphism in Croatian and Slovenian Multiple Sclerosis Patients
Ristic S, et al.
Eur Neurol 2007 Jan;57(4):203-7

Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios
Cho IH, et al.
Brain Res 2007 Jan

Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis
Nicholas B, et al.
Mol Psychiatry 2007 Jan

Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimers disease
Mukherjee O, et al.
BMC Genet 2007 Jan;8(1):3

Haptoglobin polymorphism and diabetic retinopathy in Brazilian patients
Wobeto VP, et al.
Diabetes Res Clin Pract 2007 Jan

The peroxisome proliferator-activated receptor gamma (PPAR-gamma2) Pro12Ala polymorphism is associated with higher risk for Alzheimer's disease in octogenarians
Scacchi R, et al.
Brain Res 2007 Jan

A functional polymorphism in the parkin gene promoter affects the age of onset of Parkinson's disease
Sutherland G, et al.
Neurosci Lett 2007 Jan

Evidence for association between multiple complement pathway genes and AMD
Dinu V, et al.
Genet Epidemiol 2007 Jan

Genetic association between polymorphisms of Pen2 gene and late onset Alzheimer's disease in the North Chinese population
Jia L, et al.
Brain Res 2007 Jan

Polymorphisms of catechol-0-methyltransferase (COMT), monoamine oxidase B (MAOB), N-acetyltransferase 2 (NAT2) and cytochrome P450 2D6 (CYP2D6) gene in patients with early onset of Parkinson(')s disease
Bialecka M, et al.
Parkinsonism Relat Disord 2007 Jan

 

Diseases of the Circulatory System

The GNB3 C825T polymorphism and essential hypertension: a meta-analysis of 34 studies including 14 094 cases and 17 760 controls
Bagos PG, et al.
J Hypertens 2007 Mar;25(3):487-500

The PlA1/A2 polymorphism of glycoprotein IIIa and cerebrovascular events in hypertension: increased risk of ischemic stroke in high-risk patients
Lanni F, et al.
J Hypertens 2007 Mar;25(3):551-6

High frequency of factor V Leiden in surgical patients with symptomatic venous thromboembolism despite prophylaxis
Baba-Ahmed M, et al.
Thromb Haemost 2007 Feb;97(2):171-5

Fibrinogen gene haplotypes in relation to risk of coronary events and coronary and extracoronary atherosclerosis: The Rotterdam Study
Kardys I, et al.
Thromb Haemost 2007 Feb;97(2):288-95

Relevance of apolipoprotein E4 for the lipid profile of Brazilian patients with coronary artery
disease

Souza DR, et al.
Braz J Med Biol Res 2007 Feb;40(2):189-97

Genetic variation in thrombin-activatable fibrinolysis inhibitor (TAFI) is associated with the risk of splanchnic vein thrombosis
de Bruijne EL, et al.
Thromb Haemost 2007 Feb;97(2):181-5

Do Angiotensin-Converting Enzyme (ACE) Inhibitors Enhance the Effect of Exercise Rehabilitation in Patients With Hypertension and ACE DD and DI Genotypes?
Duzli Y, et al.
Arch Phys Med Rehabil 2007 Feb;88(2):262-4

Lack of association between the 807 C/T polymorphism of glycoprotein Ia gene and post-treatment platelet reactivity after aspirin and clopidogrel in patients with acute coronary syndrome
Cuisset T, et al.
Thromb Haemost 2007 Feb;97(2):212-7

Torsades de pointes complicating atrioventricular block: Evidence for a genetic predisposition
Chevalier P, et al.
Heart Rhythm 2007 Feb;4(2):170-4

Genetic risk for restenosis after coronary stenting
Oguri M, et al.
Atherosclerosis 2007 Jan

HLA-DRB1 and persistent chronic inflammation contribute to cardiovascular events and cardiovascular mortality in patients with rheumatoid arthritis
Gonzalez-Gay MA, et al.
Arthritis Rheum 2007 Jan;57(1):125-32

Risk of coronary artery disease as influenced by variants of the human endothelin and endothelin-converting enzyme genes
Buhler K, et al.
Pharmacogenet Genomics 2007 Jan;17(1):77-83

ATP-Binding Cassette Transporter A1 Gene I823M Polymorphism Affects Plasma High-Density Lipoprotein Cholesterol Level and Modifies the Effect of Low High-Density Lipoprotein Cholesterol on the Risk of Coronary Artery Disease
Tsai CT, et al.
Cardiology 2007 Jan;107(4):321-8

Association of Vascular Endothelial Growth Factor Gene Polymorphism with Myocardial Infarction in Patients with Type 2 Diabetes
Petrovic D, et al.
Cardiology 2007 Jan;107(4):291-5

Prevalence of the JAK2(V617F) mutation among patients with splanchnic or cerebral venous thrombosis and without overt chronic myeloproliferative disorders
De Stefano V, et al.
J Thromb Haemost 2007 Jan

Elevated plasma fibrinogen gamma' concentration is associated with myocardial infarction: effects of variation in fibrinogen genes and environmental factors
Mannila MN, et al.
J Thromb Haemost 2007 Jan

Functional COMT Val158Met Polymorphism, Risk of Acute Coronary Events and Serum Homocysteine: The Kuopio Ischaemic Heart Disease Risk Factor Study
Voutilainen S, et al.
PLoS ONE 2007;2:e181

 

Diseases of the Respiratory System

Interferon-gamma gene+874T-A polymorphism is associated with tuberculosis and gamma interferon response
Sallakci N, et al.
Tuberculosis (Edinb) 2007 Feb

A variant of the myosin light chain kinase gene is associated with severe asthma in African Americans
Flores C, et al.
Genet Epidemiol 2007 Jan

 

Diseases of the Digestive System

Role of ASCA and the NOD2/CARD15 mutation Gly908Arg in predicting increased surgical costs in Crohn's disease patients: A project of the European Collaborative Study Group on Inflammatory Bowel Disease
Odes S, et al.
Inflamm Bowel Dis 2007 Feb

Genetic polymorphisms of CYP2C9 and CYP2C19 are not related to drug-induced idiosyncratic liver injury (DILI)
Pachkoria K, et al.
Br J Pharmacol 2007 Feb

Combined type-1 plasminogen activator inhibitor and NOD2/CARD15 genotyping predicts complicated Crohn's disease behaviour
Alvarez-Lobos M, et al.
Aliment Pharmacol Ther 2007 Feb;25(4):429-40

Do MYO9B genetic variants predispose to coeliac disease? An association study in a cohort of South Italian children
Cirillo G, et al.
Dig Liver Dis 2007 Jan

Association of the macrophage migration inhibitory factor gene polymorphisms with inflammatory bowel disease
Oliver J, et al.
Gut 2007 Jan;56(1):150-1

IBD5 is associated with an extensive complicated Crohn's disease feature: implications from genotype-phenotype analysis
Brescianini S, et al.
Gut 2007 Jan;56(1):149-50

Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury
Lang C, et al.
Pharmacogenet Genomics 2007 Jan;17(1):47-60

 

Diseases of the Genitourinary System

Circulating levels of visfatin/pre-B-cell colony-enhancing factor 1 in relation to genotype, GFR, body composition, and survival in patients with CKD
Axelsson J, et al.
Am J Kidney Dis 2007 Feb;49(2):237-44

Common polymorphisms of the PAI1 gene do not play a major role in the development of diabetic nephropathy in Type 1 diabetes
Martin RJ, et al.
Diabet Med 2007 Jan

Combination of Angiotensin-converting enzyme and methylenetetrahydrofolate reductase gene polymorphisms as determinant risk factors for chronic allograft dysfunction
de Alvarenga MP, et al.
Transplant Proc 2007 Jan-2007 Feb;39(1):78-80

Possible influence of vitamin d receptor gene polymorphisms on recombinant human erythropoietin requirements in dialysis patients
Sezer S, et al.
Transplant Proc 2007 Jan-2007 Feb;39(1):40-4

 

Complications of Pregnancy, Childbirth, and the Puerperium

Genetic Polymorphisms and Spontaneous Preterm Birth
Gibson CS, et al.
Obstet Gynecol 2007 Feb;109(2):384-91

 

Diseases of the Skin and Subcutaneous Tissue

Association between the insertion/deletion polymorphism of the angiotensin I-converting enzyme gene and risk for psoriasis in a Chinese population in Taiwan
Chang YC, et al.
Br J Dermatol 2007 Jan

Association analysis of IL19, IL20 and IL24 genes in palmoplantar pustulosis
Kingo K, et al.
Br J Dermatol 2007 Jan

 

Diseases of the Musculoskeletal System and Connective Tissue

Genetic susceptibility to total hip arthroplasty failure-positive association with mannose-binding lectin
Malik MH, et al.
J Arthroplasty 2007 Feb;22(2):265-70

Polymorphisms in the CNTF and CNTF receptor genes are associated with muscle strength in men and women
De Mars G, et al.
J Appl Physiol 2007 Feb

Investigation of association between the TRAF family genes and RA susceptibility
Potter C, et al.
Ann Rheum Dis 2007 Feb

Association between KLOTHO gene and hand osteoarthritis in a female Caucasian population
Zhang F, et al.
Osteoarthritis Cartilage 2007 Jan

The HLA-DRB1 shared epitope alleles differ in the interaction with smoking and predisposition to antibodies to cyclic citrullinated peptide
van der Helm-van Mil AH, et al.
Arthritis Rheum 2007 Jan;56(2):425-32

Fcgamma receptor type IIIA genotype and response to tumor necrosis factor alpha-blocking agents in patients with rheumatoid arthritis
Kastbom A, et al.
Arthritis Rheum 2007 Jan;56(2):448-52

PADI4 polymorphisms and rheumatoid arthritis susceptibility: a meta-analysis
Lee YH, et al.
Rheumatol Int 2007 Jan

Integrin beta3 Leu33Pro polymorphism and risk of hip fracture: 25 years follow-up of 9233 adults from the general population
Tofteng CL, et al.
Pharmacogenet Genomics 2007 Jan;17(1):85-91

 

Congenital Anomalies

Correlation Between Genetic Variations in Hox Clusters and Hirschsprung's Disease
Garcia-Barcelo MM, et al.
Ann Hum Genet 2007 Feb

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias
Beleza-Meireles A, et al.
Eur J Hum Genet 2007 Jan

Few associations of candidate genes with nonsyndromic orofacial clefts in the population of
Lithuania

Morkuniene A, et al.
J Appl Genet 2007;48(1):87-9

 

 

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Page last reviewed: February 8, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics