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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
January 4, 2007
Volume 18, No. 1

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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

Prevalence of RHD 1227A and hybrid Rhesus box in the general Chinese population
Yang YF, et al.
Transl Res 2007 Jan;149(1):31-6

Allele and genotype frequencies of metabolic genes in Native Americans from Argentina and Paraguay
Bailliet G, et al.
Mutat Res 2006 Dec

UGT1A1(TA)(n) promoter polymorphism-A new case of a (TA)(8) allele in Caucasians
Ostanek B, et al.
Blood Cells Mol Dis 2006 Dec

 

Infectious and Parasitic Diseases

HLA-B Bw4 alleles and HIV-1 transmission in heterosexual couples
Welzel TM, et al.
AIDS 2007 Jan;21(2):225-9

Toll-like receptor 2 and Toll-like receptor 4 polymorphisms in invasive pneumococcal disease
Moens L, et al.
Microbes Infect 2006 Dec

Detection of auto-antibodies against cytochrome P4502E1 (CYP2E1) in chronic hepatitis C
Vidali M, et al.
J Hepatol 2006 Dec

 

Neoplasms

Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study
McLaughlin JR, et al.
Lancet Oncol 2007 Jan;8(1):26-34

Pharmacokinetics of gemcitabine in Japanese cancer patients: the impact of a cytidine deaminase polymorphism
Sugiyama E, et al.
J Clin Oncol 2007 Jan;25(1):32-42

The Role of SN-38 Exposure, UGT1A1*28 Polymorphism, and Baseline Bilirubin Level in Predicting Severe Irinotecan Toxicity
Ramchandani RP, et al.
J Clin Pharmacol 2007 Jan;47(1):78-86

Common polymorphisms in D12S1034 flanking genes RASSF8 and BHLHB3 are not associated with lung adenocarcinoma risk
Falvella FS, et al.
Lung Cancer 2006 Dec

The impact of epidermal growth factor receptor gene status on gefitinib-treated Japanese patients with non-small-cell lung cancer
Ichihara S, et al.
Int J Cancer 2006 Dec

Polymorphisms in DNA repair genes and therapeutic outcomes of AML patients from SWOG clinical trials
Kuptsova N, et al.
Blood 2006 Dec

Polymorphisms of DNA repair genes are risk factors for prostate cancer
Hirata H, et al.
Eur J Cancer 2006 Dec

Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan
Yeh CC, et al.
J Biomed Sci 2006 Dec

Role of the BRAF Mutations in the Microsatellite Instability Genetic Pathway in Sporadic Colorectal Cancer
Maestro ML, et al.
Ann Surg Oncol 2006 Dec

 

Endocrine, Nutritional and Metabolic Diseases

Genetic Control of Alternative Splicing in the TAP2 Gene: Possible Implication in the Genetics of Type 1 Diabetes
Qu HQ, et al.
Diabetes 2007 Jan;56(1):270-5

Effect of Polymorphic CYP3A5 Genotype on the Single-Dose Simvastatin Pharmacokinetics in Healthy Subjects
Kim KA, et al.
J Clin Pharmacol 2007 Jan;47(1):87-93

CTLA-4 Gene Exon-1 +49 A/G Polymorphism: Lack of Association with Autoimmune Disease in Patients with Common Variable Immune Deficiency
Knight AK, et al.
J Clin Immunol 2006 Dec

Single nucleotide polymorphisms of the Melanocortin-3 Receptor gene are associated with substrate oxidation and first-phase insulin secretion in offspring of type 2 diabetic subjects
Rutanen J, et al.
J Clin Endocrinol Metab 2006 Dec

Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: Results of a family and DNA-based screening
Campagna F, et al.
Atherosclerosis 2006 Dec

The effect of APOA5 and APOC3 variants on lipid parameters in European Whites, Indian Asians and Afro-Caribbeans with type 2 diabetes
Dorfmeister B, et al.
Biochim Biophys Acta 2006 Dec

 

Diseases of the Blood & Blood-Forming Organ Disorders

Roles of DRB1( *)1501 and DRB1( *)1502 in the pathogenesis of aplastic anemia
Sugimori C, et al.
Exp Hematol 2007 Jan;35(1):13-20

VKORC1 and CYP2C9 Genotypes and Phenprocoumon Anticoagulation Status: Interaction Between both Genotypes Affects Dose Requirement
Schalekamp T, et al.
Clin Pharmacol Ther 2006 Dec

 

Mental Disorders

Common Genetic Variations in CCK, Leptin, and Leptin Receptor Genes Are Associated With Specific Human Eating Patterns
de Krom M, et al.
Diabetes 2007 Jan;56(1):276-80

Glutathione S-transferase mu, omega, pi, and theta class variants and smoking in Parkinson's disease
Wahner AD, et al.
Neurosci Lett 2006 Dec

Association analysis of the dopamine receptor D2 (DRD2) SNP rs1076560 in alcoholic patients
Sasabe T, et al.
Neurosci Lett 2006 Dec

An investigation of the neurotrophic factor genes GDNF, NGF, and NT3 in susceptibility to ADHD
Syed Z, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

The MAOA T941G polymorphism and short-term treatment response to mirtazapine and paroxetine in major depression
Tadic A, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Association of dopamine transporter genotype with disruptive behavior disorders in an eight-year longitudinal study of children and adolescents
Lee SS, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Brain-derived neurotrophic factor and risk of schizophrenia: An association study and meta-analysis Qian L, et al.
Biochem Biophys Res Commun 2006 Dec

Association study between the TNXB locus and schizophrenia in a Japanese population
Tochigi M, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Lack of Association between Polymorphisms of the Dopamine Receptor D4 and Dopamine Transporter Genes and Personality Traits in a Korean Population
Kim SJ, et al.
Yonsei Med J 2006 Dec;47(6):787-92

Family trios analysis of common polymorphisms in the obestatin/ghrelin, BDNF and AGRP genes in patients with Anorexia nervosa: Association with subtype, body-mass index, severity and age of onset
Dardennes RM, et al.
Psychoneuroendocrinology 2006 Dec

Association of polymorphisms in P2RX7 and CaMKKb with anxiety disorders
Erhardt A, et al.
J Affect Disord 2006 Dec

Effect of 5-haplotype of dysbindin gene (DTNBP1) polymorphisms for the susceptibility to bipolar I disorder
Pae CU, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

HTR2C and HTR1A gene variants in German and Italian suicide attempters and completers
Serretti A, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec           

 

Diseases of the Nervous System and Sense Organs

Frequency of the IVS4+66A-G polymorphism in the alpha-synuclein gene in patients with Parkinson's disease in north-western Mexico
Ramirez-Jirano LJ, et al.
Rev Neurol 2007 Jan;44(1):15-7

beta(2)-Adrenergic receptor gene variants and risk for autism in the AGRE cohort
Cheslack-Postava K, et al.
Mol Psychiatry 2007 Jan

Population-Based Study of Early Age-Related Macular Degeneration Role of the Complement Factor H Y402H Polymorphism in Bilateral but Not Unilateral Disease
Tedeschi-Blok N, et al.
Ophthalmology 2007 Jan;114(1):99-103

Risk factors and myocardial infarction in patients with obstructive sleep apnea: impact of beta-2-adrenergic receptor polymorphisms
Bartels NK, et al.
BMC Med 2007 Jan;5(1):1

Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database
Bertram L, et al.
Nat Genet 2007 Jan;39(1):17-23

Tumor necrosis factor-alpha promoter polymorphism is associated with the risk of Parkinson's disease
Wu YR, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Dec

Genetic polymorphism of the angiotensin converting enzyme and l-dopa-induced adverse effects in Parkinson's disease
Lin JJ, et al.
J Neurol Sci 2006 Dec

A genotype of exceptional longevity is associated with preservation of cognitive function
Barzilai N, et al.
Neurology 2006 Dec;67(12):2170-5

Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study
Wilk JB, et al.
Neurology 2006 Dec;67(12):2206-10

A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population
Tanimoto S, et al.
Neurosci Lett 2006 Dec

The A218C polymorphism of tryptophan hydroxylase gene and migraine
Erdal N, et al.
J Clin Neurosci 2006 Dec

Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts
Fung HC, et al.
Neurodegener Dis 2006;3(6):327-33

Genetic association study on colony-stimulating factor 1 in Alzheimer's disease
Wollmer MA, et al.
Neurodegener Dis 2006;3(6):334-7

 

Diseases of the Circulatory System

High Systolic Blood Pressure Is Associated With Val/Val Genotype in the Catechol-O-Methyltransferase Gene The Nord-Trondelag Health Study (HUNT)
Hagen K, et al.
Am J Hypertens 2007 Jan;20(1):21-6

The G-231A Polymorphism in the Endothelin-A Receptor Gene Is Associated With Lower Aortic Pressure in Patients With Dilated Cardiomyopathy
Telgmann R, et al.
Am J Hypertens 2007 Jan;20(1):32-7

Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients
Girnita DM, et al.
Transplantation 2006 Dec;82(12):1774-80

ACE I/D polymorphism study in a Cuban hypertensive population
Companioni Napoles O, et al.
Clin Chim Acta 2006 Dec

Associations between connexin37 gene polymorphism and markers of subclinical atherosclerosis: The Cardiovascular Risk in Young Finns study
Collings A, et al.
Atherosclerosis 2006 Dec

The MDR1/ABCB1 Gene, a High-Impact Risk Factor for Cardiac Transplant Rejection
Barnard JB, et al.
Transplantation 2006 Dec;82(12):1677-82

The FXIIIVal34Leu, common and risk factors of venous thrombosis in early middle-age Costa Rican patients
Salazar-Sanchez L, et al.
Cell Biochem Funct 2006 Dec

677TT polymorphism of methylenetetrahydrofolate reductase in combination with low serum vitamin B(12) is associated with coronary in-stent restenosis
Chung SL, et al.
Catheter Cardiovasc Interv 2006 Dec

 

Diseases of the Respiratory System

TNF-alpha (-308 G/A) and CD14 (-159T/C) polymorphisms in the bronchial responsiveness of Korean children with asthma
Hong SJ, et al.
J Allergy Clin Immunol 2006 Dec

 

Diseases of the Digestive System

HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease
Jores RD, et al.
Scand J Gastroenterol 2007 Jan;42(1):48-53

 

Diseases of the Genitourinary System

A functional polymorphism in the manganese superoxide dismutase gene and diabetic nephropathy
Mollsten A, et al.
Diabetes 2007 Jan;56(1):265-9

The Impact of Transforming Growth Factor-beta1 Gene Polymorphism on End-Stage Renal Failure After Heart Transplantation
van de Wetering J, et al.
Transplantation 2006 Dec;82(12):1744-8

CYP3A5 Genotype Markedly Influences the Pharmacokinetics of Tacrolimus and Sirolimus in Kidney Transplant Recipients
Renders L, et al.
Clin Pharmacol Ther 2006 Dec

 

Complications of Pregnancy, Childbirth, and the Puerperium

Angiotensin-converting enzyme I/D polymorphism and preeclampsia risk: evidence of small-study bias
Serrano NC, et al.
PLoS Med 2006 Dec;3(12):e520

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of a TNAP haplotype with ankylosing spondylitis
Tsui HW, et al.
Arthritis Rheum 2006 Dec;56(1):234-43

Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee
Valdes AM, et al.
Arthritis Rheum 2006 Dec;56(1):137-46

Genetic association between the PRKCH gene encoding protein kinase Ceta isozyme and rheumatoid arthritis in the Japanese population
Takata Y, et al.
Arthritis Rheum 2006 Dec;56(1):30-42

Effect of glutathione S-TRANSFERASE polymorphisms and proximity to hazardous waste sites on time to systemic lupus erythematosus diagnosis: Results from the roxbury lupus project
Karlson EW, et al.
Arthritis Rheum 2006 Dec;56(1):244-54

 

 

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Page last reviewed: January 4, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics