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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
July 5, 2007
Volume 19, 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

TP53 codon 72 polymorphism in 12 populations of insular Southeast Asia and Oceania
Kashima T, et al.
J Hum Genet 2007 Jul

CYP1A2 F21L and F186L Polymorphisms in an Italian Population Sample
Pucci L, et al.
Drug Metab Pharmacokinet 2007 Jun;22(3):220-2

Apolipoprotein E polymorphism in Southern Iran: E4 allele in the lowest reported amounts
Bazrgar M, et al.
Mol Biol Rep 2007 Jun

Change in the spectrum of RET mutations diagnosed between 1994 and 2006
Frank-Raue K, et al.
Clin Lab 2007;53(5-6):273-82

 

Infectious and Parasitic Diseases

Associations between alpha +-Thalassemia and Plasmodium falciparum Malarial Infection in Northeastern Tanzania
Enevold A, et al.
J Infect Dis 2007 Aug;196(3):451-9

RANTES, MCP-1, CCR2, CCR5, CXCR1 and CXCR4 Gene Polymorphisms are not Associated with the Outcome of Hepatitis B Virus Infection: Results from a Large Scale Single Ethnic Population
Cheong JY, et al.
J Korean Med Sci 2007 Jun;22(3):529-35

CCR2b-64I Allelic Polymorphisms in Advanced HIV-Infected Koreans Accelerate Disease Progression
Choi BS, et al.
AIDS Res Hum Retroviruses 2007 Jun;23(6):805-11

Short Communication: HIV Type 1 Variants with Nevirapine Resistance Mutations Are Rarely Detected in Antiretroviral Drug-Naive African Women with Subtypes A, C, and D
Church JD, et al.
AIDS Res Hum Retroviruses 2007 Jun;23(6):764-8

Regulatory Polymorphisms in the Cyclophilin A Gene, PPIA, Accelerate Progression to AIDS
An P, et al.
PLoS Pathog 2007 Jun;3(6):e88

Clearance and Persistence of Hepatitis C Virus in a Tunisian Population: Association with HLA Class I and Class II
Ksiaa L, et al.
Viral Immunol 2007 Summer;20(2):312-9

 

Neoplasms

STAT3 Polymorphism Predicts Interferon-Alfa Response in Patients With Metastatic Renal Cell Carcinoma
Ito N, et al.
J Clin Oncol 2007 Jul;25(19):2785-91

No Association between TGFBR1*6A and Lung Cancer
You W, et al.
J Thorac Oncol 2007 Jul;2(7):657-9

Clinical Significance of Epidermal Growth Factor Receptor Gene Mutations on Treatment Outcome after First-line Cytotoxic Chemotherapy in Japanese Patients with Non-small Cell Lung Cancer
Hotta K, et al.
J Thorac Oncol 2007 Jul;2(7):632-7

Cytochrome P450 17A1 and Catechol O-Methyltransferase Polymorphisms and Age at Lynch Syndrome Colon Cancer Onset in Newfoundland
Campbell PT, et al.
Clin Cancer Res 2007 Jul;13(13):3783-8

Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
Gudmundsson J, et al.
Nat Genet 2007 Jul

Malignant head and neck paragangliomas in SDHB mutation carriers
Boedeker CC, et al.
Otolaryngol Head Neck Surg 2007 Jul;137(1):126-9

Genetic variability in CYP3A4 and CYP3A5 in primary liver, gastric and colorectal cancer patients
Gervasini G, et al.
BMC Cancer 2007 Jul;7(1):118

Transcriptional Functionality of Germ Line p53 Mutants Influences Cancer Phenotype
Monti P, et al.
Clin Cancer Res 2007 Jul;13(13):3789-95

Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma
Zhou G, et al.
Hum Mutat 2007 Jul

One-carbon metabolism-related gene polymorphisms and risk of head and neck squamous cell carcinoma: Case-control study
Suzuki T, et al.
Cancer Sci 2007 Jun

Systematic Evaluation of Genetic Variants in the Inflammation Pathway and Risk of Lung Cancer
Engels EA, et al.
Cancer Res 2007 Jun

Sulfotransferase 1A1 (SULT1A1) polymorphism and susceptibility to primary brain tumors
Bardakci F, et al.
J Cancer Res Clin Oncol 2007 Jun

An Association Between RRM1 Haplotype and Gemcitabine-Induced Neutropenia in Breast Cancer Patients
Rha SY, et al.
Oncologist 2007 Jun;12(6):622-30

Interaction of polymorphisms in the Interleukin 1B-31 and general transcription factor 2A1 genes on the susceptibility to gastric cancer
Lee KA, et al.
Cytokine 2007 Jun

Active and passive smoking, IL6, ESR1, and breast cancer risk
Slattery ML, et al.
Breast Cancer Res Treat 2007 Jun

Polymorphism of XRCC1 predicts overall survival of gastric cancer patients receiving oxaliplatin-based chemotherapy in Chinese population
Liu B, et al.
Eur J Hum Genet 2007 Jun

STK15 F31I polymorphism is associated with increased uterine cancer risk: A pilot study
Milam MR, et al.
Gynecol Oncol 2007 Jun

Case-only study of interactions between metabolic enzymes and smoking in colorectal cancer
Fan C, et al.
BMC Cancer 2007 Jun;7(1):115

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families
Filippini S, et al.
BMC Med Genet 2007 Jun;8(1):40

High-throughput genotyping of a common deletion polymorphism disrupting the TRY6 gene and its association with breast cancer risk
Wagner K, et al.
BMC Genet 2007 Jun;8(1):41

Cytochrome P450 1A1 (CYP1A1) polymorphisms and breast ancer risk in Korean women
Shin A, et al.
Exp Mol Med 2007 Jun;39(3):361-6

The epidermal growth factor receptor intron1 (CA) n microsatellite polymorphism is a potential predictor of treatment outcome in patients with advanced lung cancer treated with Gefitinib
Nie Q, et al.
Eur J Pharmacol 2007 Jun

Breast cancer risk associated with multigenotypic polymorphisms in folate-metabolizing genes: a nested case-control study in Taiwan
Yu CP, et al.
Anticancer Res 2007 May-2007 Jun;27(3B):1727-32

Association of p53 and p21(CDKN1A/WAF1/CIP1) polymorphisms with oral cancer in Taiwan patients
Bau DT, et al.
Anticancer Res 2007 May-2007 Jun;27(3B):1559-64

The -463G/A polymorphism in myeloperoxidase gene and cervical cancer
Mustea A, et al.
Anticancer Res 2007 May-2007 Jun;27(3B):1531-5

 

Endocrine, Nutritional and Metabolic Diseases

Effect of the -420C/G variant of the resistin gene promoter on metabolic syndrome, obesity, myocardial infarction and kidney dysfunction
Norata GD, et al.
J Intern Med 2007 Jul;262(1):104-12

Investigation of Thr715Pro P-selectin gene polymorphism and soluble P-selectin levels in type 2 diabetes mellitus
Nagy B Jr, et al.
Thromb Haemost 2007 Jul;98(1):186-91

Common variants in WFS1 confer risk of type 2 diabetes
Sandhu MS, et al.
Nat Genet 2007 Jul

CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans
Ramos-Lopez E, et al.
Diabetes Metab Res Rev 2007 Jul

Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes
Bailey R, et al.
Diabetes 2007 Jul

Association between angiotensin-1 converting enzyme gene olymorphism and the metabolic syndrome in a Mexican opulation
Alvarez-Aguilar C, et al.
Exp Mol Med 2007 Jun;39(3):327-34

Risk for Premenstrual Dysphoric Disorder Is Associated with Genetic Variation in ESR1, the Estrogen Receptor Alpha Gene
Huo L, et al.
Biol Psychiatry 2007 Jun

Cytochrome P450 2C9 (*)2 and (*)3 Polymorphisms and the Dose and Effect of Sulfonylurea in Type II Diabetes Mellitus
Becker ML, et al.
Clin Pharmacol Ther 2007 Jun

Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study
McLaren CE, et al.
Am J Hematol 2007 Jun

Variants of the Transcription Factor 7-Like 2 (TCF7L2) Gene are Associated with Type 2 Diabetes in an African American Population Enriched for Nephropathy
Sale MM, et al.
Diabetes 2007 Jun

 

Diseases of the Blood & Blood-Forming Organ Disorders

Effects of the factor V G1691A mutation and the factor II G20210A variant on the clinical expression of severe hemophilia A in children - results of a multicenter studys
Kurnik K, et al.
Haematologica 2007 Jul;92(7):982-5

 

Mental Disorders

Identification of Functional Polymorphisms in the Promoter Region of the Human PICK1 Gene and Their Association With Methamphetamine Psychosis
Matsuzawa D, et al.
Am J Psychiatry 2007 Jul;164(7):1105-14

Association between a functional serotonin transporter promoter polymorphism and citalopram treatment in adult outpatients with major depression
Hu XZ, et al.
Arch Gen Psychiatry 2007 Jul;64(7):783-92

Lack of association between endothelial nitric oxide synthase (NOS3) gene polymorphisms and suicide attempts
Saiz PA, et al.
Behav Brain Funct 2007 Jul;3(1):32

Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia
Benzel I, et al.
Behav Brain Funct 2007 Jun;3(1):31

A quantitative association study between schizotypal traits and COMT, PRODH and BDNF genes in a healthy Chinese population
Ma X, et al.
Psychiatry Res 2007 Jun

No association between a TPH2 promoter polymorphism and mood disorders or monoamine turnover
Mann JJ, et al.
J Affect Disord 2007 Jun

Association study between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia: A meta-analysis
Li D & He L
Schizophr Res 2007 Jun

Interaction between CRHR1 Gene and Stressful Life Events Predicts Adolescent Heavy Alcohol Use
Blomeyer D, et al.
Biol Psychiatry 2007 Jun

Serotonin transporter polymorphism and fluoxetine effect on impulsiveness and aggression in borderline personality disorder
Silva H, et al.
Actas Esp Psiquiatr 2007 Jun

Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder
Van Den Eede F, et al.
Psychiatry Res 2007 Jun

The catechol O-methyltransferase Val158Met polymorphism is not associated with broad-based cognitive functioning in schizophrenia
Dickerson FB, et al.
Schizophr Res 2007 Jun

 

Diseases of the Nervous System and Sense Organs

Family-based analysis of serotonin transporter gene polymorphisms in migraine with and without aura
Karwautz A, et al.
Cephalalgia 2007 Jul;27(7):773-80

Tumour necrosis factor-{alpha} single nucleotide polymorphisms are not independent of HLA class I in UK Caucasians with adult onset idiopathic inflammatory myopathies
Chinoy H, et al.
Rheumatology (Oxford) 2007 Jun

A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely
Gu W, et al.
Neurosci Lett 2007 Jun

Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany
Mancuso M, et al.
Neurol Sci 2007 Jun;28(3):142-7

Apolipoprotein e polymorphism in first-degree relatives of patients with familial or sporadic Alzheimer's disease
Cacao Jde C, et al.
Arq Neuropsiquiatr 2007 Jun;65(2A):295-8

Cognitive Impairment in Alzheimer's Disease Is Modified by APOE Genotype
van der Vlies AE, et al.
Dement Geriatr Cogn Disord 2007 Jun;24(2):98-103

 

Diseases of the Circulatory System

Association of phosphodiesterase 4D gene G0 haplotype and ischaemic stroke in a Greek
population

Fidani L, et al.
Eur J Neurol 2007 Jul;14(7):745-9

Variants conferring risk of atrial fibrillation on chromosome 4q25
Gudbjartsson DF, et al.
Nature 2007 Jul

Analysis of activated protein C resistance, factor v coagulation activity and gene polymorphisms in patients with venous thromboembolism
Han XM, et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi 2007 Jun;15(3):612-6

Confirmation of an Association Between the TNF(-308) Promoter Polymorphism and Stroke Risk in Children With Sickle Cell Anemia
Hoppe C, et al.
Stroke 2007 Jun

The role of apolipoprotein e in cognitive decline and delirium after bypass heart operations
Tagarakis GI, et al.
Am J Alzheimers Dis Other Demen 2007 Jun-2007 Jul;22(3):223-8

Polymorphism of the FABP2 gene: a population frequency analysis and an association study with Cardiovascular Risk Markers in Argentina
Gomez LC, et al.
BMC Med Genet 2007 Jun;8(1):39

Decreased factor XIII levels in factor XIII A subunit Leu34 homozygous patients with coronary artery disease
Bereczky Z, et al.
Thromb Res 2007 Jun

Dynamic regulation of MTHFR mRNA expression and C677T genotype modulate mortality in coronary artery disease patients after revascularization
Pereira AC, et al.
Thromb Res 2007 Jun

Polymorphisms in Apolipoprotein B and risk of ischemic stroke
Benn M, et al.
J Clin Endocrinol Metab 2007 Jun

Gene Polymorphisms of TNF-alpha(-308), IL-10 (-1082), IL-6 (-174), and IL-1Ra (VNTR) Related to Susceptibility and Severity of Rheumatic Heart Disease
Settin A, et al.
Pediatr Cardiol 2007 Jun

Endothelial Nitric Oxide Synthase Glu298Asp Gene Polymorphism is Associated with Hypertensive Response to Exercise in Well-Controlled Hypertensive Patients
Kim JS, et al.
Yonsei Med J 2007 Jun;48(3):389-95

 

Diseases of the Digestive System

Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease
Henckaerts LC, et al.
Gut 2007 Jun

Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease: A meta-analysis
Latiano A, et al.
Inflamm Bowel Dis 2007 Jun

Carbamoyl Phosphate Synthetase Polymorphisms as a Risk Factor for Necrotizing Enterocolitis
Moonen RM, et al.
Pediatr Res 2007 Jun

 

Diseases of the Genitourinary System

Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample
Zhao ZZ, et al.
Hum Reprod 2007 Jun

Association between SLE nephritis and polymorphic variants of the CRP and Fc{gamma}RIIIa
genes

Jonsen A, et al.
Rheumatology (Oxford) 2007 Jun

Genetic Control of VEGF and TGF-beta1 Gene Polymorphisms in Childhood Urinary Tract Infection and Vesicoureteral Reflux
Yim HE, et al.
Pediatr Res 2007 Jun

Disease Progression, Response to ACEI/ATRA Therapy and Influence of ACE Gene in IgA Nephritis
Woo KT, et al.
Cell Mol Immunol 2007 Jun;4(3):227-32

 

Complications of Pregnancy, Childbirth, and the Puerperium

Polymorphisms in the Tumor Necrosis Factor-alpha Gene in Turkish Women with Pre-eclampsia and Eclampsia
Pazarbasi A, et al.
Acta Med Okayama 2007 Jun;61(3):153-60

 

Diseases of the Musculoskeletal System and Connective Tissue

Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis
Farago B, et al.
Ann Rheum Dis 2007 Jul

Impact of CYP3A7*1C polymorphism on bone mineral content in postmenopausal women
Bacsi K, et al.
Orv Hetil 2007 Jul;148(27):1273-80

Polymorphisms of Genes for Programmed Cell Death 1 Ligands in Patients with Rheumatoid
Arthritis

Wang SC, et al.
J Clin Immunol 2007 Jun

Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis
Sigurdsson S, et al.
Arthritis Rheum 2007 Jun;56(7):2202-10

Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis
McKinney C, et al.
Ann Rheum Dis 2007 Jun

Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese Population
Shi D, et al.
J Hum Genet 2007 Jun

Evidence of potential interaction of chemokine genes in susceptibility to systemic sclerosis
Lee EB, et al.
Arthritis Rheum 2007 Jun;56(7):2443-8

Human Leukocyte Antigens in Undifferentiated Spondyloarthritis
Liao HT, et al.
Semin Arthritis Rheum 2007 Jun

 

Congenital Anomalies

Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases
Gioli-Pereira L, et al.
Int J Cardiol 2007 Jun

 

Certain Conditions Originating in the Perinatal Period

Sudden Infant Death Syndrome: Rare Mutation in the Serotonin System FEV Gene
Rand CM, et al.
Pediatr Res 2007 Jun

 

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Page last reviewed: July 5, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics