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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
April 27, 2006
Volume 16, No. 17

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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

Frequencies of single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in a Finnish population
Pasanen MK, et al.
Eur J Clin Pharmacol 2006 Apr

 

Infectious and Parasitic Diseases

Association of transforming growth factor- Beta 1 functional polymorphisms with natural clearance of hepatitis C virus
Kimura T, et al.
J Infect Dis 2006 May;193(10):1371-4

 

Neoplasms

Genetic polymorphism of cholesterol 7alpha-hydroxylase (CYP7A1) and colorectal adenomas: Self Defense Forces Health Study
Tabata S, et al.
Cancer Sci 2006 May;97(5):406-10

O(6)-Methylguanine-DNA Methyltransferase Leu84Phe and Ile143Val Polymorphisms and Risk of Colorectal Cancer in the Nurses' Health Study and Physicians' Health Study (United States)
Tranah GJ, et al.
Cancer Causes Control 2006 Jun;17(5):721-31

ATM haplotypes and breast cancer risk in Jewish high-risk women
Koren M, et al.
Br J Cancer 2006 Apr

Effects of glutathione S-transferase A1 (GSTA1) genotype and potential modifiers on breast cancer risk
Ahn J, et al.
Carcinogenesis 2006 Apr

Interaction of passive smoking with GST (GSTM1, GSTT1, and GSTP1) genotypes in the risk of cervical cancer in India
Sobti RC, et al.
Cancer Genet Cytogenet 2006 Apr;166(2):117-23

A specific RAD51 haplotype increases breast cancer risk in Jewish non-Ashkenazi high-risk women
Gal I, et al.
Eur J Cancer 2006 Apr

Methylenetetrahydrofolate reductase gene and susceptibility to breast cancer: a meta-analysis
Zintzaras E
Clin Genet 2006 Apr;69(4):327-36

Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy
Ruzzo A, et al.
J Clin Oncol 2006 Apr;24(12):1883-91

Joint effect among p53, CYP1A1, GSTM1 polymorphism combinations and smoking on prostate cancer risk: an exploratory genotype-environment interaction study
Quinones LA, et al.
Asian J Androl 2006 May;8(3):349-55

A functional polymorphism in the promoter region of leptin gene increases susceptibility for non-small cell lung cancer
Ribeiro R, et al.
Eur J Cancer 2006 Apr

KRAS Mutation Status Is Predictive of Response to Cetuximab Therapy in Colorectal Cancer
Lievre A, et al.
Cancer Res 2006 Apr;66(8):3992-5

Duration but not Intensity of Alcohol and Tobacco Exposure Predicts p16INK4A Homozygous Deletion in Head and Neck Squamous Cell Carcinoma
Kraunz KS, et al.
Cancer Res 2006 Apr;66(8):4512-5

Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)
Andrieu N, et al.
J Natl Cancer Inst 2006 Apr;98(8):535-44

Genetic variants of the ADPRT, XRCC1, and APE1 genes and risk of cutaneous melanoma
Li C, et al.
Carcinogenesis 2006 Apr

Increased frequency of rapid acetylator genotypes in patients with brain astrocytoma and meningioma
Olivera M, et al.
Acta Neurol Scand 2006 May;113(5):322-6

Genetic Polymorphisms of Interleukin-1B (IL-1B), IL-6, IL-8, and IL-10 and Risk of Prostate Cancer
Michaud DS, et al.
Cancer Res 2006 Apr;66(8):4525-30

South Indian men with reduced CAG repeat length in the androgen receptor gene have an increased risk of prostate cancer
Krishnaswamy V, et al.
J Hum Genet 2006;51(3):254-7

 

Endocrine, Nutritional and Metabolic Diseases

Leptin resistance conferred by a combination of single nucleotide polymorphism and the adoption of a Western lifestyle in urban areas of Thailand
Yanagisawa Y, et al.
J Nutr Health Aging 2006 May-2006 Jun;10(3):176-82

The effects of uncoupling protein 3 haplotypes on obesity phenotypes and very low-energy diet-induced changes among overweight Korean female subjects
Cha MH, et al.
Metabolism 2006 May;55(5):578-86

The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels
Parle-McDermott A, et al.
Mol Genet Metab 2006 Apr

Association of APOE (Hha1) and ACE (I/D) gene polymorphisms with type 2 diabetes mellitus in North West India
Singh PP, et al.
Diabetes Res Clin Pract 2006 Apr

Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients
Hwang JS, et al.
Diabetes Res Clin Pract 2006 Apr

The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population
Yue P, et al.
Hum Mutat 2006 Apr;27(5):460-6

Association of the promoter polymorphism -232C/G of the phosphoenolpyruvate carboxykinase gene (PCK1) with Type 2 diabetes mellitus
Gouni-Berthold I, et al.
Diabet Med 2006 Apr;23(4):419-25

Gene polymorphisms in the Quebec population: A risk to develop hypertriglyceridemia
Garenc C, et al.
Biochem Biophys Res Commun 2006 Apr

Association between the Pro12Ala variant of the peroxisome proliferator-activated receptor-gamma2 gene and increased 24-h diastolic blood pressure in obese patients with type II diabetes
Stefanski A, et al.
J Hum Hypertens 2006 Apr

Discovery, linkage disequilibrium and association analyses of polymorphisms of the immune complement inhibitor, decay-accelerating factor gene (DAF/CD55) in type 1 diabetes
Taniguchi H, et al.
BMC Genet 2006 Apr;7(1):22

Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation
Mattit H, et al.
Eur J Med Genet 2006 Apr

Analysis of Sequence Variations in the LDL Receptor Gene in Spain: General Gene Screening or Search for Specific Alterations?
Blesa S, et al.
Clin Chem 2006 Apr

Genetic association of type 1 diabetes in an Azerbaijanian population: the HLA-DQ, -DRB1*04, the insulin gene, and CTLA4
Ahmedov G, et al.
Pediatr Diabetes 2006 Apr;7(2):88-93

 

Diseases of the Blood and Blood-Forming Organs Disorders

Genetics of HUS: the impact of MCP, CFH and IF mutations on clinical presentation, response to treatment, and outcome
Caprioli J, et al.
Blood 2006 Apr

Allele frequencies of three factor VIII gene polymorphisms in Iranian populations and their application in hemophilia A carrier detection
Azimifar SB, et al.
Am J Hematol 2006 Apr;81(5):335-9

Frequency of CYP2C9 polymorphisms affecting warfarin metabolism in a large anticoagulant clinic cohort
Moridani M, et al.
Clin Biochem 2006 Apr

 

Mental Disorders

Polymorphisms in the dopamine D4 receptor gene (DRD4) contribute to individual differences in human sexual behavior: desire, arousal and sexual function
Ben Zion IZ, et al.
Mol Psychiatry 2006 Apr

Association of GABRA2 with Drug Dependence in the Collaborative Study of the Genetics of Alcoholism Sample
Agrawal A, et al.
Behav Genet 2006 Apr

Genetic and expression analyses of the STOP (MAP6) gene in schizophrenia
Shimizu H, et al.
Schizophr Res 2006 Apr

ALDH2 PROMOTER POLYMORPHISM HAS NO EFFECT ON THE RISK FOR ALCOHOLISM
Kimura M, et al.
Alcohol Alcohol 2006 Apr

The serotonin 1A receptor C(-1019)G polymorphism in relation to suicide attempt
Wasserman D, et al.
Behav Brain Funct 2006 Apr;2(1):14

Manganese superoxide dismutase (MnSOD: Ala-9Val) gene polymorphism and mood disorders: A preliminary study
Pae CU, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2006 Apr

DIFFERENT ALLELE-DISTRIBUTION OF MTHFR 677 C -> T AND MTHFR -393 C -> A IN PATIENTS CLASSIFIED ACCORDING TO SUBTYPES OF LESCH'S TYPOLOGY
Bonsch D, et al.
Alcohol Alcohol 2006 Apr

A dopamine transporter polymorphism is a risk factor for borderline personality disorder in depressed patients
Joyce PR, et al.
Psychol Med 2006 Apr:1-7

Evaluation of a Susceptibility Gene for Schizophrenia: Genotype Based Meta-Analysis of RGS4 Polymorphisms from Thirteen Independent Samples
Talkowski ME, et al.
Biol Psychiatry 2006 Apr

Risk Factors for Extrapyramidal Symptoms During Treatment With Selective Serotonin Reuptake Inhibitors, Including Cytochrome P-450 Enzyme, and Serotonin and Dopamine Transporter and Receptor Polymorphisms
Hedenmalm K, et al.
J Clin Psychopharmacol 2006 Apr;26(2):192-7

Combined Effects of Itraconazole and CYP2D6*10 Genetic Polymorphism on the Pharmacokinetics and Pharmacodynamics of Haloperidol in Healthy Subjects
Park JY, et al.
J Clin Psychopharmacol 2006 Apr;26(2):135-42

The D(2) dopamine receptor (DRD2) gene is associated with co-morbid depression, anxiety and social dysfunction in untreated veterans with post-traumatic stress disorder
Lawford BR, et al.
Eur Psychiatry 2006 Apr;21(3):180-5

 

Diseases of the Nervous System and Sense Organs

Genetic association between Ubiquitin Carboxy-terminal Hydrolase-L1 gene S18Y polymorphism and sporadic Alzheimer's disease in a Chinese Han population
Xue S & Jia J
Brain Res 2006 Apr

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease
Marongiu R, et al.
Mov Disord 2006 Apr

DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West
Jamora RD, et al.
J Neurol Sci 2006 Apr

Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans
Brassat D, et al.
Genes Immun 2006 Apr

CD24 Ala/Val polymorphism and multiple sclerosis
Goris A, et al.
J Neuroimmunol 2006 Apr

Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia
Saunders-Pullman R, et al.
Neurosci Lett 2006 Apr

Endothelial nitric oxide synthase gene polymorphisms in non-arteritic anterior ischemic optic neuropathy
Sakai T, et al.
Graefes Arch Clin Exp Ophthalmol 2006 Apr

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan
Di Fonzo A, et al.
Neurogenetics 2006 Apr

The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study
Hagen K, et al.
J Headache Pain 2006 Apr

Identification of the JAK2 V617F Mutation in Chronic Myeloproliferative Disorders Using FRET Probes and Melting Curve Analysis
Murugesan G, et al.
Am J Clin Pathol 2006 Apr;125(4):625-33

 

Diseases of the Circulatory System

T null and M null genotypes of the Glutathione S-transferase gene are risk factor for CAD independent of smoking
Abu-Amero KK, et al.
BMC Med Genet 2006 Apr;7(1):38

Lower serum concentration of matrix metalloproteinase-3 in the acute stage of myocardial infarction
Samnegard A, et al.
J Intern Med 2006 May;259(5):530-6

Soluble CD40L Levels Are Regulated by the -3459 A>G Polymorphism and Predict Myocardial Infarction and the Efficacy of Antithrombotic Treatment in Non-ST Elevation Acute Coronary Syndrome
Malarstig A, et al.
Arterioscler Thromb Vasc Biol 2006 Apr

Acute stroke in relation to homocysteine and methylenetetrahydrofolate reductase gene polymorphisms
Dikmen M, et al.
Acta Neurol Scand 2006 May;113(5):307-14

Prevalence of factor V Leiden and prothrombin G20210A mutations in Chinese patients with deep venous thrombosis and pulmonary embolism
Jun ZJ, et al.
Clin Lab Haematol 2006 Apr;28(2):111-6

A common polymorphism in the complement factor h gene is associated with increased risk of myocardial infarction the rotterdam study
Kardys I, et al.
J Am Coll Cardiol 2006 Apr;47(8):1568-75

Search on Chromosome 17 Centromere Reveals TNFRSF13B as a Susceptibility Gene for Intracranial Aneurysm. A Preliminary Study
Inoue K, et al.
Circulation 2006 Apr

Beta2-adrenergic receptor genetic variants and risk of sudden cardiac death
Sotoodehnia N, et al.
Circulation 2006 Apr;113(15):1842-8

Interaction of homocysteine and conventional predisposing factors on risk of ischemic stroke in young adults. Consistency of phenotype-disease analysis and genotype-disease analysis
Pezzini A, et al.
J Neurol Neurosurg Psychiatry 2006 Apr

A role for CETP TaqIB polymorphism in determining susceptibility to atrial fibrillation: a nested case control study
Asselbergs FW, et al.
BMC Med Genet 2006 Apr;7(1):39

 

Diseases of the Respiratory System

Confirmation of association of IL-15 with pediatric asthma and comparison of different controls
Bierbaum S, et al.
Allergy 2006 May;61(5):576-80

Promoter genetic variants of prostanoid DP receptor (PTGDR) gene in patients with asthma
Sanz C, et al.
Allergy 2006 May;61(5):543-8

Cysteinyl leukotriene receptor 1 promoter polymorphism is associated with aspirin-intolerant asthma in males
Kim SH, et al.
Clin Exp Allergy 2006 Apr;36(4):433-9

ICAM1 amino-acid variant K469E is associated with paediatric bronchial asthma and elevated sICAM1 levels
Puthothu B, et al.
Genes Immun 2006 Apr

Association between genetic variations of vascular endothelial growth factor receptor 2 and atopy in the Korean population
Park HW, et al.
J Allergy Clin Immunol 2006 Apr;117(4):774-9

IL-17F sequence variant (His161Arg) is associated with protection against asthma and antagonizes wild-type IL-17F activity
Kawaguchi M, et al.
J Allergy Clin Immunol 2006 Apr;117(4):795-801

Polymorphisms in manganese superoxide dismutase and catalase genes: functional study in Hong Kong Chinese asthma patients
Mak JC, et al.
Clin Exp Allergy 2006 Apr;36(4):440-7

 

Diseases of the Digestive System

Associations of Allelic Variants of the Multidrug Resistance Gene (ABCB1 or MDR1) and Inflammatory Bowel Disease and Their Effects on Disease Behavior: A Case-control and Meta-analysis Study
Onnie CM, et al.
Inflamm Bowel Dis 2006 Apr;12(4):263-71

Helicobacter pylori-induced indoleamine 2,3-dioxygenase activity in vivo is regulated by TGFB1 and CTLA4 polymorphisms
Raitala A, et al.
Mol Immunol 2006 Apr

CC-Type Chemokine Receptor 5-Delta32 Mutation Protects Against Primary Sclerosing Cholangitis
Henckaerts L, et al.
Inflamm Bowel Dis 2006 Apr;12(4):272-7

Association of APOE-C1 gene cluster polymorphisms with gallstone disease
Dixit M, et al.
Dig Liver Dis 2006 Apr

 

Diseases of the Genitourinary System

Analysis of a uteroglobin gene polymorphism in childhood Henoch-Schonlein purpura
Eisenstein EM & Choi M
Pediatr Nephrol 2006 Apr

Variants in the gene encoding aldose reductase (AKR1B1) and diabetic nephropathy in American Indians
Wolford JK, et al.
Diabet Med 2006 Apr;23(4):367-76

Tacrolimus dose requirement in relation to donor and recipient ABCB1 and CYP3A5 gene polymorphisms in Chinese liver transplant patients
Wei-Lin W, et al.
Liver Transpl 2006 Apr;12(5):775-80

A novel multidrug-resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus
Floreani A, et al.
Hepatology 2006 Apr;43(5):1152-4

 

Complications of Pregnancy, Childbirth, and the Puerperium

The association of the PON1 Q192R polymorphism with complications and outcomes of pregnancy: findings from the British Women's Heart and Health cohort study
Lawlor DA, et al.
Paediatr Perinat Epidemiol 2006 May;20(3):244-50

 

Diseases of the Skin and Subcutaneous Tissue

Vascular endothelial growth factor gene polymorphisms increase the risk to develop psoriasis
Barile S, et al.
Exp Dermatol 2006 May;15(5):368-76

Association study between catalase gene polymorphisms and the susceptibility to vitiligo in Korean population
Park HH, et al.
Exp Dermatol 2006 May;15(5):377-80

Lack of association with TNF-alpha-308 promoter polymorphism in patients with vitiligo
Yazici AC, et al.
Arch Dermatol Res 2006 Apr

 

Diseases of the Musculoskeletal System and Connective Tissue

Assessment of linkage and association of 13 genetic loci with bone mineral density
Lau HH, et al.
J Bone Miner Metab 2006;24(3):226-3

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
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