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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
June 28, 2007
Volume 18, No. 26

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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

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease
Park S, et al.
Hum Mutat 2007 Jun

Plasminogen Activator Inhibitor-1 (PAI-1) gene 4G/5G alleles frequency distribution in the Lebanese population
Shammaa DM, et al.
Mol Biol Rep 2007 Jun

 

Infectious and Parasitic Diseases

Fc gamma Receptor IIa (CD32) Polymorphism and Antibody responses to Asexual Blood-stage Antigens of Plasmodium falciparum Malaria in Sudanese Patients
Nasr A, et al.
Scand J Immunol 2007 Jul;66(1):87-96

 

Neoplasms

Influence of thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms on the disease-free survival of breast cancer patients receiving adjuvant 5-fluorouracil/methotrexate-based therapy
Pare L, et al.
Anticancer Drugs 2007 Aug;18(7):821-5

Association of functional gene variants in the regulatory regions of COX-2 gene (PTGS2) with nonmelanoma skin cancer after organ transplantation
Gomez Lira M, et al.
Br J Dermatol 2007 Jul;157(1):49-57

Distinctive Evaluation of Nonmucinous and Mucinous Subtypes of Bronchioloalveolar Carcinomas in EGFR and K-ras Gene-Mutation Analyses for Japanese Lung Adenocarcinomas: Confirmation of the Correlations With Histologic Subtypes and Gene
Sakuma Y, et al.
Am J Clin Pathol 2007 Jul;128(1):100-8

Study of genetic polymorphism of xenobiotic enzymes in acute leukemia
Eyada TK, et al.
Blood Coagul Fibrinolysis 2007 Jul;18(5):489-95

Endostatin gene variation and protein levels in breast cancer susceptibility and severity
Balasubramanian SP, et al.
BMC Cancer 2007 Jun;7(1):107

Common Variation in the BRCA1 Gene and Prostate Cancer Risk
Douglas JA, et al.
Cancer Epidemiol Biomarkers Prev 2007 Jun

Association analysis of glutathione-S-transferase P1 (GSTP1) polymorphism with urothelial cancer susceptibility and myelosuppression after M-VAC chemotherapy
Yokomizo A, et al.
Int J Urol 2007 Jun;14(6):500-4

Association of HSP70-hom genetic variant with prostate cancer risk
Sfar S, et al.
Mol Biol Rep 2007 Jun

Breast cancer: a candidate gene approach across the estrogen metabolic pathway
Justenhoven C, et al.
Breast Cancer Res Treat 2007 Jun

Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies
Johnatty SE, et al.
Breast Cancer Res Treat 2007 Jun

COX-2 CA-Haplotype Is a Risk Factor for the Development of Esophageal Adenocarcinoma
Moons LM, et al.
Am J Gastroenterol 2007 Jun

GSTP1 and MTHFR Polymorphisms Are Related with Toxicity in Breast Cancer Adjuvant Anthracycline-Based Treatment
Zarate R, et al.
Curr Drug Metab 2007 Jun;8(5):481-6

Tagging SNPs in the kallikrein genes 3 and 2 on 19q13 and their associations with prostate cancer in men of European origin
Pal P, et al.
Hum Genet 2007 Jun

Vitamin D receptor gene polymorphisms are associated with increased risk and progression of renal cell carcinoma in a Japanese population
Obara W, et al.
Int J Urol 2007 Jun;14(6):483-7

ATM sequence variants associate with susceptibility to non-small cell lung cancer
Yang H, et al.
Int J Cancer 2007 Jun

PIK3CA mutation is predictive of poor survival in patients with colorectal cancer
Kato S, et al.
Int J Cancer 2007 Jun

Large Genomic Rearrangement in BRCA1 and BRCA2 and Clinical Characteristics of Men with Breast Cancer in the United States
Tchou J, et al.
Clin Breast Cancer 2007 Jun;7(8):627-33

Lymphocyte radiosensitivity in BRCA1 and BRCA2 mutation carriers and implications for breast cancer susceptibility
Barwell J, et al.
Int J Cancer 2007 Jun

 

Endocrine, Nutritional and Metabolic Diseases

Genetic variation and decreased risk for obesity in the Atherosclerosis Risk in Communities Study
Hart Sailors ML, et al.
Diabetes Obes Metab 2007 Jul;9(4):548-57

MYO9B gene polymorphisms are associated with autoimmune diseases in Spanish population
Sanchez E, et al.
Hum Immunol 2007 Jul;68(7):610-5

Immunogenetics of HLA class II in Israeli patients with adult-onset Type 1 diabetes mellitus
Hirsch D, et al.
Hum Immunol 2007 Jul;68(7):616-22

The PPARgamma Pro12Ala Polymorphism Is Not Associated with Body Mass Index or Waist Circumference among Hispanics from Colorado
Nelson TL, et al.
Ann Nutr Metab 2007 Jun;51(3):252-7

Association Study of the Genetic Polymorphisms of the Transcription Factor7- like 2 (TCF7L2) Gene and Type 2 Diabetes in the Chinese Population
Chang YC, et al.
Diabetes 2007 Jun

Association of HLA DQ B1(*) and HLA DR B1 (*) Alleles with Goitrous Juvenile Autoimmune Hypothyroidism-A Case Control Study
L RP, et al.
J Clin Immunol 2007 Jun

Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition
Mitchell ES, et al.
Menopause 2007 Jun

Meta-analysis of the IPF1 D76N polymorphism in a worldwide type 2 diabetes population
Gragnoli C & Cronsell J
Minerva Med 2007 Jun;98(3):163-6

Transcription factor 7-like 2 polymorphisms and type 2 diabetes, glucose homeostasis traits and gene expression in US participants of European and African descent
Elbein SC, et al.
Diabetologia 2007 Jun

Genetic Polymorphism of the Flavin-Containing Monooxygenase 3 (FMO3) Associated with Trimethylaminuria (Fish Odor Syndrome): Observations from Japanese Patients
Yamazaki H & Shimizu M
Curr Drug Metab 2007 Jun;8(5):487-91

Variations in the four and a half LIM domains 1 gene (FHL1) are associated with fasting insulin and insulin sensitivity responses to regular exercise
Teran-Garcia M, et al.
Diabetologia 2007 Jun

 

Mental Disorders

Association of AGTR1 With 18-Month Treatment Outcome in Late-Life Depression
Kondo DG, et al.
Am J Geriatr Psychiatry 2007 Jul;15(7):564-72

Exploring candidate gene associations with neuropsychological performance
McQueen MB, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jun

Interaction between a functional MAOA locus and childhood sexual abuse predicts alcoholism and antisocial personality disorder in adult women
Ducci F, et al.
Mol Psychiatry 2007 Jun

Testing for gene x environment interaction effects in attention deficit hyperactivity disorder and associated antisocial behavior
Langley K, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jun

Family-based association analysis of a statistically derived quantitative traits for ADHD reveal an association in DRD4 with inattentive symptoms in ADHD individuals
Lasky-Su J, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jun

NOS-I and -III gene variants are differentially associated with facets of suicidal behavior and aggression-related traits
Rujescu D, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jun

Is the 5-HTTLPR polymorphism associated with bipolar disorder or with suicidal behavior of bipolar disorder patients?
Neves FS, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jun

Genetic variants in the DRD2 gene moderate the relationship between stressful life events and depressive symptoms in adults: cardiovascular risk in young Finns study
Elovainio M, et al.
Psychosom Med 2007 Jun;69(5):391-5

A gene x gene interaction between DRD2 and DRD4 is associated with conduct disorder and antisocial behavior in males
Beaver KM, et al.
Behav Brain Funct 2007 Jun;3(1):30

Ethnic Stratification of the Association of RGS4 Variants with Antipsychotic Treatment Response in Schizophrenia
Campbell DB, et al.
Biol Psychiatry 2007 Jun

Manganese superoxide dismutase (MnSOD: Ala-9Val) gene polymorphism may not be associated with schizophrenia and tardive dyskinesia
Pae CU, et al.
Psychiatry Res 2007 Jun

The glycine transporter 1 gene (GLYT1) is associated with methamphetamine-use disorder
Morita Y, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jun

No association between the DAT1 10-repeat allele and ADHD in the Iranian population
Banoei MM, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jun

Associations of a regulatory polymorphism of monoamine oxidase-A gene promoter (MAOA-uVNTR) with symptoms of depression and sleep quality
Brummett BH, et al.
Psychosom Med 2007 Jun;69(5):396-401

Genetic polymorphism of glutathione S-transferase T1: A candidate genetic modifier of individual susceptibility to schizophrenia
Saadat M, et al.
Psychiatry Res 2007 Jun

beta-Arrestins 1 and 2 are associated with nicotine dependence in European American smokers
Sun D, et al.
Mol Psychiatry 2007 Jun

The BDNF Val(66)Met x 5-HTTLPR x child adversity interaction and depressive symptoms: An attempt at replication
Wichers M, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jun

 

Diseases of the Nervous System and Sense Organs

Three mutations analysis of glucose-6-phosphate dehydrogenase deficiency in neonates in South-west China
Deng C, et al.
Pediatr Int 2007 Aug;49(4):463-7

Association between Vitamin D Receptor Gene Polymorphism and Alzheimer's Disease
Gezen-Ak D, et al.
Tohoku J Exp Med 2007 Jul;212(3):275-82

CYP1B1 Mutation Profile of Iranian Primary Congenital Glaucoma Patients and Associated Haplotypes
Chitsazian F, et al.
J Mol Diagn 2007 Jul;9(3):382-93

Transmission of class I/II multi-locus MHC haplotypes and multiple sclerosis susceptibility: accounting for linkage disequilibrium
Chao MJ, et al.
Hum Mol Genet 2007 Jun

No association of CSF biomarkers with APOE{varepsilon}4, plaque and tangle burden in definite Alzheimer's disease
Engelborghs S, et al.
Brain 2007 Jun

Association of DISC1 with autism and Asperger syndrome
Kilpinen H, et al.
Mol Psychiatry 2007 Jun

No association of migraine to the GABA-A receptor complex on chromosome 15
Oswell G, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jun

Complement Factor H and Hemicentin-1 in Age-Related Macular Degeneration and Renal Phenotypes
Thompson CL, et al.
Hum Mol Genet 2007 Jun

The TNF-&
Chui MH, et al.
Behav Neurosci 2007 Jun;121(3):619-24

Diseases of the Circulatory System

Coagulation factor VII and inflammatory markers in patients with coronary heart disease
Ekstrom M, et al.
Blood Coagul Fibrinolysis 2007 Jul;18(5):473-7

PON1 activity and genotype in patients with arterial ischemic stroke and in healthy individuals
Schiavon R, et al.
Acta Neurol Scand 2007 Jul;116(1):26-30

A Polymorphic GT Short Tandem Repeat Affecting beta-ENaC mRNA Expression Is Associated With Low Renin Essential Hypertension
Gonzalez AA, et al.
Am J Hypertens 2007 Jul;20(7):800-6

Renin-Angiotensin system and nitric oxide synthase gene polymorphisms in relation to stroke
Henskens LH, et al.
Am J Hypertens 2007 Jul;20(7):764-70

An additive effect of endothelial nitric oxide synthase gene polymorphisms contributes to the severity of atherosclerosis in patients on dialysis
Spoto B, et al.
Am J Hypertens 2007 Jul;20(7):758-63

High Sodium Intake Strengthens the Association of ACE I/D Polymorphism with Blood Pressure in a Community
Yamagishi K, et al.
Am J Hypertens 2007 Jul;20(7):751-7

The role of angiotensin-converting enzyme gene insertion/deletion polymorphism for blood pressure regulation in areca nut chewers
Chung FM, et al.
Transl Res 2007 Jul;150(1):58-65

Arylesterase Activity and Antioxidant Status Depend on PON1-Q192R and PON1-L55M Polymorphisms in Subjects with Increased Risk of Cardiovascular Disease Consuming Walnut-Enriched Meat
Nus M, et al.
J Nutr 2007 Jul;137(7):1783-8

Plasminogen activator inhibitor-1 4G/5G polymorphism and risk of ischemic stroke: a meta-analysis
Tsantes AE, et al.
Blood Coagul Fibrinolysis 2007 Jul;18(5):497-504

The Asp<sup>299</sup>Gly Toll-like receptor 4 polymorphism in advanced aortic atherosclerosis
Hommels MJ, et al.
Neth J Med 2007 Jun;65(6):203-7

Effects of polymorphisms of heat shock protein 70 gene on ischemic stroke, and interaction with smoking in China
Liu J, et al.
Clin Chim Acta 2007 Jun

The interactive role of diabetes mellitus type 2 and E-selectin S128R mutation on coronary heart disease manifestation
Abu-Amero KK, et al.
BMC Med Genet 2007 Jun;8(1):35

Associations of the beta-fibrinogen Hae III and factor XIII Val34Leu gene variants with venous thrombosis
Cushman M, et al.
Thromb Res 2007 Jun

Matrix metalloproteinase-9 polymorphism contributes to blood pressure and arterial stiffness in essential hypertension
Zhou S, et al.
J Hum Hypertens 2007 Jun

Polymorphisms of the peroxisome proliferator-activated receptor-gamma coactivator-1alpha gene are associated with hypertrophic cardiomyopathy and not with hypertension hypertrophy
Wang S, et al.
Clin Chem Lab Med 2007 Jun

Relationship of the CAG repeat polymorphism of the MEF2A gene and coronary artery disease in a Chinese population
Han Y, et al.
Clin Chem Lab Med 2007 Jun

A variant of position -308 of the Tumour necrosis factor alpha gene promoter and the risk of coronary heart disease
Elahi MM, et al.
Heart Lung Circ 2007 Jun

Methylenetetrahydrofolate reductase gene polymorphism is not related to the risk of ischemic cerebrovascular disease in a Brazilian population
Marie SK, et al.
Clinics 2007;62(3):295-300

 

 

Diseases of the Respiratory System

Polymorphisms of interleukin-10 and tumour necrosis factor-alpha genes are associated with newly diagnosed and recurrent pulmonary tuberculosis
Oh JH, et al.
Respirology 2007 Jul;12(4):594-8

Association analysis of brain-derived neurotrophic factor gene polymorphisms in asthmatic children
Szczepankiewicz A, et al.
Pediatr Allergy Immunol 2007 Jun;18(4):293-7

Association between Q551R IL4R genetic variants and atopic asthma risk demonstrated by meta-analysis
Loza MJ & Chang BL
J Allergy Clin Immunol 2007 Jun

 

Diseases of the Digestive System

Polymorphisms in NFKBIA and ICAM-1 genes in New Zealand Caucasian Crohn's disease patients
Hong J, et al.
J Gastroenterol Hepatol 2007 Jun

[The Prevalence of Peripheral Iron Overload and the Presence of HFE gene (H63D) Mutation among the Korean Patients with Nonalcoholic Fatty Liver Disease.]
Lee D, et al.
Korean J Hepatol 2007 Jun;13(2):174-84

Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-alpha single nucleotide gene polymorphisms in inflammatory bowel disease
Meijer MJ, et al.
World J Gastroenterol 2007 Jun;13(21):2960-6

Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver disease patients in north India
Dhillon BK, et al.
World J Gastroenterol 2007 Jun;13(21):2956-9

Functional Polymorphisms of the GSTT-1 Gene Do Not Predict the Severity of Acute Pancreatitis in the United States
Bhat YM, et al.
Pancreatology 2007 Jun;7(2-3):180-6

 

Diseases of the Genitourinary System

VEGF 936 C/T gene polymorphism in renal transplant recipients: Association of the T allele with good graft outcome
Gunesacar R, et al.
Hum Immunol 2007 Jul;68(7):599-602

Association of Fc gamma receptor IIIB polymorphism with renal-allogrft in Chinese
Xu G, et al.
Transpl Immunol 2007 Jul;18(1):28-31

 

Complications of Pregnancy, Childbirth, and the Puerperium

Factor V Leiden mutation: a treatable etiology for sporadic and recurrent pregnancy loss
Glueck CJ, et al.
Fertil Steril 2007 Jun

 

Diseases of the Skin and Subcutaneous Tissue

Strong associations of psoriasis with antigen processing LMP and transport genes TAP differ by gender and phenotype
Kramer U, et al.
Genes Immun 2007 Jun

Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease
Betz RC, et al.
J Invest Dermatol 2007 Jun

Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis
Capon F, et al.
Hum Genet 2007 Jun

 

Diseases of the Musculoskeletal System and Connective Tissue

Interleukin-1 gene complex polymorphisms in systemic sclerosis patients with severe restrictive lung physiology
Beretta L, et al.
Hum Immunol 2007 Jul;68(7):603-9

Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis
Kahlmann D, et al.
BMC Genet 2007 Jun;8(1):33

Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma
Majorczyk E, et al.
Eur J Hum Genet 2007 Jun

The association of DRB1*04 share epitope alleles and tumor necrosis factor-alpha gene polymorphism (-863) with susceptibility to rheumatoid arthritis in Thai
Hirankarn N, et al.
Rheumatol Int 2007 Jun

Transforming growth factor Beta 1 gene polymorphism in Japanese patients with systemic lupus erythematosus
Wang B, et al.
Kobe J Med Sci 2007;53(1):15-23

 

Congenital Anomalies

Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil
Brandalize AP, et al.
Braz J Med Biol Res 2007 Jun;40(6):787-91

RISK FACTORS FOR HYPOSPADIAS IN THE ESTROGEN RECEPTOR 2 GENE
Beleza-Meireles A, et al.
J Clin Endocrinol Metab 2007 Jun

 

Certain Conditions Originating in the Perinatal Period

Comparison of surfactant protein B polymorphisms of healthy term newborns with preterm newborns having respiratory distress syndrome
Lyra PP, et al.
Braz J Med Biol Res 2007 Jun;40(6):779-86

TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population
Cauchi S, et al.
BMC Med Genet 2007 Jun;8(1):37

 

Injury and Poisoning

[Relationship between adaptation to high altitude hypoxia environment and glucose transport 1 gene polymorphism]
Wang S, et al.
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi 2007 Apr;24(2):425-9

 

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Page last reviewed: June 28, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics