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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
June 1, 2006
Volume 16, No. 22

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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

Genetic variants in the enhancer region of the thymidylate synthase gene in the Chilean population
Acuna M, et al.
Br J Clin Pharmacol 2006 Jun;61(6):778-82

 

Infectious and Parasitic Diseases

Lack of higher frequency of the chemokine receptor 5-delta32/delta32 genotype in hepatitis C
Tommasi AM, et al.
J Clin Gastroenterol 2006 May-2006 Jun;40(5):440-3

Association between human African trypanosomiasis and the IL6 gene in a Congolese population
Courtin D, et al.
Infect Genet Evol 2006 May

           

Neoplasms

Different p53 mutation patterns in colorectal tumors from smokers and nonsmokers
Huang CC, et al.
Environ Mol Mutagen 2006 May

Plasminogen activator inhibitor-1 polymorphism is associated with increased risk for oral cancer
Vairaktaris E, et al.
Oral Oncol 2006 May

Low Prevalence of BRCA1 Exon Rearrangements in Familial and Young Sporadic Breast Cancer Patients
Ellis D, et al.
Fam Cancer 2006 May

Accuracy of BRCA1 and BRCA2 Founder Mutation Analysis in Formalin-Fixed and Paraffin-Embedded (FFPE) Tissue
Adank MA, et al.
Fam Cancer 2006 May

ICAM gene cluster SNPs and prostate cancer risk in African Americans
Chen H, et al.
Hum Genet 2006 May

Correlation between B-RAFV600E mutation and clinico-pathologic parameters in papillary thyroid carcinoma: data from a multicentric Italian study and review of the literature
Fugazzola L, et al.
Endocr Relat Cancer 2006 Jun;13(2):455-64

Polymorphisms of metabolic enzyme genes, living habits and prostate cancer susceptibility
Yang J, et al.
Front Biosci 2006;11:2052-60

Genetic polymorphisms of the uridine diphosphate glucuronosyltransferase 1A7 and colorectal cancer risk in relation to cigarette smoking and alcohol drinking in a Chinese population
Chen K, et al.
J Gastroenterol Hepatol 2006 Jun;21(6):1036-41

Interleukin 6 G-174 C polymorphism and breast cancer risk
Gonzalez-Zuloeta Ladd AM, et al.
Eur J Epidemiol 2006 May

Germline BCL-2 sequence variants and inherited predisposition to prostate cancer
Kidd LR, et al.
Prostate Cancer Prostatic Dis 2006 May

Genetic polymorphisms of CYP1A1, CYP2E1, GSTM1, and GSTT1 associated with head and neck cancer
Gattas GJ, et al.
Head Neck 2006 May

FGFR4 Arg388 allele correlates with tumour thickness and FGFR4 protein expression with survival of melanoma patients
Streit S, et al.
Br J Cancer 2006 May

Mannose-binding lectin-2 genetic variation and stomach cancer risk
Baccarelli A, et al.
Int J Cancer 2006 May

Melanocortin 1 receptor variants and skin cancer risk
Han J, et al.
Int J Cancer 2006 May

Polymorphisms in ERCC1 and susceptibility to childhood acute lymphoblastic leukemia in a Chinese population
Wang SL, et al.
Leuk Res 2006 May

Polymorphisms in thymidylate synthase gene and susceptibility to breast cancer in a Chinese population: a case-control analysis
Zhai X, et al.
BMC Cancer 2006 May;6(1):138

p53 Arg72Pro polymorphism and risk of colorectal adenoma and cancer
Koushik A, et al.
Int J Cancer 2006 May

Pituitary adenoma predisposition caused by germline mutations in the AIP gene
Vierimaa O, et al.
Science 2006 May;312(5777):1228-30

Hormonal imbalance in two types of endometrial cancer and genetic polymorphism of steroidogenic enzymes
Berstein L, et al.
Maturitas 2006 May

Tobacco smoking, NAT2 acetylation genotype and breast cancer risk
Lissowska J, et al.
Int J Cancer 2006 May

 

Endocrine, Nutritional and Metabolic Diseases

Relationship Between Subclinical Rejection and Genotype, Renal Messenger RNA, and Plasma Protein Transforming Growth Factor-beta1 Levels
Hueso M, et al.
Transplantation 2006 May;81(10):1463-6

The 11482G>A Polymorphism in the Perilipin Gene Is Associated With Weight Gain With Rosiglitazone Treatment in Type 2 Diabetes
Kang ES, et al.
Diabetes Care 2006 Jun;29(6):1320-4

Perilipin gene variation determines higher susceptibility to insulin resistance in asian women when consuming a high-saturated fat, low-carbohydrate diet
Corella D, et al.
Diabetes Care 2006 Jun;29(6):1313-9

The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults
Desai M, et al.
Diabetes 2006 Jun;55(6):1890-4

A Novel -192c/g Mutation in the Proximal P2 Promoter of the Hepatocyte Nuclear Factor-4{alpha} Gene (HNF4A) Associates With Late-Onset Diabetes
Ek J, et al.
Diabetes 2006 Jun;55(6):1869-73

Combination of HLA-A24, -DQA1*03, and -DR9 Contributes to Acute-Onset and Early Complete {beta}-Cell Destruction in Type 1 Diabetes: Longitudinal Study of Residual {beta}-Cell Function
Nakanishi K & Inoko H
Diabetes 2006 Jun;55(6):1862-8

HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months
Edghill EL, et al.
Diabetes 2006 Jun;55(6):1895-8

Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency
Luczay A, et al.
Eur J Endocrinol 2006 Jun;154(6):859-64

Phenotype and HFE genotype in a population with abnormal iron markers recruited from an Endocrinology Department
Vantyghem MC, et al.
Eur J Endocrinol 2006 Jun;154(6):835-41

Vitamin D receptor gene polymorphisms are associated with risk of Hashimoto's thyroiditis in Chinese patients in Taiwan
Lin WY, et al.
J Clin Lab Anal 2006;20(3):109-12

Meta-analysis on the effect of the N363S polymorphism of the glucocorticoid receptor gene (GRL) on human obesity
Marti A, et al.
BMC Med Genet 2006 May;7(1):50

Association of sequence variations in the gene encoding adiponectin receptor 1 (ADIPOR1) with body size and insulin levels. The Finnish Diabetes Prevention Study
Siitonen N, et al.
Diabetologia 2006 May

A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes
Kang ES, et al.
J Hum Genet 2006 May

A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels
Rubin D, et al.
J Hum Genet 2006 May

Polymorphisms of the Low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study
Guo Y, et al.
J Med Genet 2006 May

Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes
Hedman M, et al.
Br J Clin Pharmacol 2006 Jun;61(6):706-15

Association between the TAP2 gene codon 665 polymorphism and Graves' Disease
Chen RH, et al.
J Clin Lab Anal 2006;20(3):93-7

Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective fas function
Clementi R, et al.
Blood 2006 May

 

Mental Disorders

Polymorphisms in the vitamin D receptor and their associations with risk of schizophrenia and selected anthropometric measures
Handoko HY, et al.
Am J Hum Biol 2006 May-2006 Jun;18(3):415-7

Smoking cessation program and CYP2A6 polymorphism
Ozaki S, et al.
Front Biosci 2006;11:2590-7

Apolipoprotein e genotype and odor identification in schizophrenia
Moberg PJ, et al.
J Neuropsychiatry Clin Neurosci 2006 Spring;18(2):231-3

Serotonin Transporter Protein Polymorphism and Harm Avoidance Personality in Migraine without Aura
Park JW, et al.
Headache 2006 Jun;46(6):991-6

Prefrontal Electrophysiologic "Noise" and Catechol-O-Methyltransferase Genotype in Schizophrenia
Winterer G, et al.
Biol Psychiatry 2006 May

Thyrotropin, but not a polymorphism in type II deiodinase, predicts response to paroxetine in major depression
Brouwer JP, et al.
Eur J Endocrinol 2006 Jun;154(6):819-25

A Novel Missense Mutation in the Transmembrane Domain of Neuregulin 1 is Associated with Schizophrenia
Walss-Bass C, et al.
Biol Psychiatry 2006 May

Gene-gene interaction between MAOA and COMT in suicidal behavior: Analysis in schizophrenia
De Luca V, et al.
Brain Res 2006 May

           

Diseases of the Nervous System and Sense Organs

Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer's disease
Sundar PD, et al.
Neurobiol Aging 2006 May

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
Conforti FL, et al.
J Negat Results Biomed 2006 May;5(1):7

Influence of lysosomal acid lipase polymorphisms on chromosome 10 on the risk of Alzheimer's disease and cholesterol metabolism
von Trotha KT, et al.
Neurosci Lett 2006 May

Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease
Zabetian CP, et al.
Neurology 2006 May

Distribution of WDR36 DNA Sequence Variants in Patients with Primary Open-Angle Glaucoma
Hauser MA, et al.
Invest Ophthalmol Vis Sci 2006 Jun;47(6):2542-6

A Prospective Assessment of the Y402H Variant in Complement Factor H, Genetic Variants in C-Reactive Protein, and Risk of Age-Related Macular Degeneration
Schaumberg DA, et al.
Invest Ophthalmol Vis Sci 2006 Jun;47(6):2336-40

Family-Based Association Analysis of Hepatocyte Growth Factor (HGF) Gene Polymorphisms in High Myopia
Han W, et al.
Invest Ophthalmol Vis Sci 2006 Jun;47(6):2291-9

No association of C-1019G promoter polymorphism of 5-HT1A receptor gene with migraine
Yang XS, et al.
Eur J Neurol 2006 May;13(5):533-5

Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility
Weiss LA, et al.
Eur J Hum Genet 2006 May

 

Diseases of the Circulatory System

Gender and Age Effects on Ventricular Repolarization Abnormality in Japanese General Carriers of a G643S Common Single Nucleotide Polymorphism for the KCNQ1 Gene
Ozawa T, et al.
Circ J 2006 Jun;70(6):645-50

Polymorphisms in the Advanced Glycosylation End Product-Specific Receptor Gene and Risk of Incident Myocardial Infarction or Ischemic Stroke
Zee RY, et al.
Stroke 2006 May

The influence of the alpha-adducin G460W polymorphism and angiotensinogen M235T polymorphism on antihypertensive medication and blood pressure
Schelleman H, et al.
Eur J Hum Genet 2006 May

Val/Leu(247) and Trp/Ser(316) polymorphisms in beta (2) glycoprotein I and their association with thrombosis in unselected Chilean patients
Palomo I, et al.
Clin Rheumatol 2006 May

IL-10 and TNF-beta gene polymorphisms have no major influence on lactate levels after cardiac surgery
Riha H, et al.
Eur J Cardiothorac Surg 2006 May

Haplotypes encoding the factor VIII 1241 Glu variation, factor VIII levels and the risk of venous thrombosis
Nossent AY, et al.
Thromb Haemost 2006 Jun;95(6):942-8

Adrenoceptor Polymorphisms and the Risk of Cardiac Injury and Dysfunction After Subarachnoid Hemorrhage
Zaroff JG, et al.
Stroke 2006 May

Genetic Polymorphism in Platelet-derived Growth Factor and Vascular Endothelial Growth Factor Are Significantly Associated With Cardiac Allograft Vasculopathy
Tambur AR, et al.
J Heart Lung Transplant 2006 Jun;25(6):690-8

Allelic variants of SCN5A and risk of sudden cardiac arrest in patients with coronary artery disease
Stecker EC, et al.
Heart Rhythm 2006 Jun;3(6):697-700

Association Study of CRP Gene Polymorphisms with Serum CRP Level and Cardiovascular Risk in the NHLBI Family Heart Study
Wang Q, et al.
Am J Physiol Heart Circ Physiol 2006 May

Association study between C-reactive protein genes and ischemic stroke in Japanese subjects
Morita A, et al.
Am J Hypertens 2006 Jun;19(6):593-600

Natriuretic peptide Val7Met substitution and risk of coronary artery disease in Greek patients with familial hypercholesterolemia
Dedoussis GV, et al.
J Clin Lab Anal 2006;20(3):98-104

Systemic lupus erythematosus in a multiethnic US cohort: XXXIV. Deficient mannose-binding lectin exon 1 polymorphisms are associated with cerebrovascular but not with other arterial thrombotic events
Calvo-Alen J, et al.
Arthritis Rheum 2006 May;54(6):1940-5

 

Diseases of the Respiratory System

Association of TNF Haplotypes with Asthma, Serum IgE levels and Correlation with Serum TNF-{alpha} levels
Sharma S, et al.
Am J Respir Cell Mol Biol 2006 May

Leukotriene C4 synthase A-444C gene polymorphism in patients with allergic rhinitis
Eskandari HG, et al.
Otolaryngol Head Neck Surg 2006 Jun;134(6):997-1000

 

Diseases of the Genitourinary System

Association of DAZL haplotypes with spermatogenic failure in infertile men
Teng YN, et al.
Fertil Steril 2006 May

Association of Two Polymorphisms in the Peroxisome Proliferator-Activated Receptor-gamma Gene With Adenomyosis, Endometriosis, and Leiomyomata in Japanese Women
Kiyomizu M, et al.
J Soc Gynecol Investig 2006 May

 

Complications of Pregnancy, Childbirth, and the Puerperium

Multilocus interactions at maternal tumor necrosis factor-alpha, tumor necrosis factor receptors, interleukin-6 and interleukin-6 receptor genes predict spontaneous preterm labor in European-American women
Menon R, et al.
Am J Obstet Gynecol 2006 Jun;194(6):1616-24

 

Diseases of the Skin and Subcutaneous Tissue

Analysis of allelic variants in the catalase gene in patients with the skin depigmenting disorder vitiligo
Gavalas NG, et al.
Biochem Biophys Res Commun 2006 May

 

Diseases of the Musculoskeletal System and Connective Tissue

Relationship of serum paraoxonase 1 activity and paraoxonase 1 genotype to risk of systemic lupus erythematosus
Tripi LM, et al.
Arthritis Rheum 2006 May;54(6):1928-39

The -308 tumour necrosis factor-{alpha} gene polymorphism predicts therapeutic response to TNF{alpha}-blockers in rheumatoid arthritis and spondyloarthritis patients
Seitz M, et al.
Rheumatology (Oxford) 2006 May

PSORS2 Markers Are Not Associated with Psoriatic Arthritis in the Italian Population
Giardina E, et al.
Hum Hered 2006 May;61(2):120-2

Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus
Sanchez E, et al.
BMC Med Genet 2006 May;7(1):48

Association of TNFSF11 gene promoter polymorphisms with bone mineral density in postmenopausal women
Mencej S, et al.
Maturitas 2006 May

Evidence of association of macrophage migration inhibitory factor gene polymorphisms with systemic lupus erythematosus
Sanchez E, et al.
Genes Immun 2006 May

 

Symptoms, Signs and Ill-defined Conditions

Association analyses of CYP19 gene polymorphisms with height variation in a large sample of Caucasian nuclear families
Yang TL, et al.
Hum Genet 2006 May

 

Injury and Poisoning

Polymorphisms in genes involved in DNA double strand break repair pathway and susceptibility to benzene-induced hematotoxicity
Shen M, et al.
Carcinogenesis 2006 May

 

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