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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
May 1, 2008
Volume 20, No. 18

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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

Do IL-4 Intron 3 VNTR and IL-6 (-174) G/C Variants Reflect Ethnic Variation? A Comparative Study Between the Global and North Indian Populations
Kesarwani P, et al.
Asian Pac J Cancer Prev 2008 Jan-2008 Mar;9(1):76-80

 

Infectious and Parasitic Diseases

Interleukin-10 Gene Polymorphism (-1082G/A) is Associated with Toxoplasmic Retinochoroiditis
Cordeiro CA, et al.
Invest Ophthalmol Vis Sci 2008 May;49(5):1979-82

Levels of Interleukin-18 Are Markedly Increased in Helicobacter pylori-Infected Gastric Mucosa among Patients with Specific IL18 Genotypes 1
Sakai K, et al.
J Infect Dis 2008 Apr

 

Neoplasms

Association between the length of a CA dinucleotide repeat in the EGFR and risk of breast cancer
Jami MS, et al.
Cancer Invest 2008 May;26(4):434-7

BRCA2 mutations as a universal risk factor for pancreatic cancer has a limited role in Korean ethnic group
Cho JH, et al.
Pancreas 2008 May;36(4):337-40

Polymorphisms in CYP1B1, GSTM1, GSTT1 and GSTP1, and susceptibility to breast cancer
Van Emburgh BO, et al.
Oncol Rep 2008 May;19(5):1311-21

Glutathione-S-transferase P1, T1 and M1 genetic polymorphisms in neoadjuvant-treated locally advanced gastric cancer: GSTM1-present genotype is associated with better prognosis in completely resected patients
Ott K, et al.
Int J Colorectal Dis 2008 Apr

Association of common ATM variants with familial breast cancer in a South American population
Gonzalez-Hormazabal P, et al.
BMC Cancer 2008 Apr;8(1):117

Analysis of single nucleotide polymorphisms of follicle-stimulating hormone receptor gene suggests association with testicular cancer susceptibility
Ferlin A, et al.
Endocr Relat Cancer 2008 Apr

BRCA2 Gene Mutations in Slovenian Male Breast Cancer Patients
Besic N, et al.
Genet Test 2008 Apr

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases
Engert S, et al.
Hum Mutat 2008 Apr

Risk of metachronous squamous cell carcinoma in the upper aerodigestive tract of  Japanese alcoholic men with esophageal squamous cell carcinoma: a long-term endoscopic follow-up study
Yokoyama A, et al.
Cancer Sci 2008 Apr

Variants in hormone biosynthesis genes and risk of endometrial cancer
Olson SH, et al.
Cancer Causes Control 2008 Apr

Heterogeneity of breast cancer associations with five susceptibility Loci by clinical and pathological characteristics
Garcia-Closas M, et al.
PLoS Genet 2008 Apr;4(4):e1000054

Consortium analysis of 7 candidate SNPs for ovarian cancer
Ramus SJ, et al.
Int J Cancer 2008 Apr

HER2 codon 655 polymorphism and breast cancer risk: a meta-analysis
Tao W, et al.
Breast Cancer Res Treat 2008 Apr

Predominant Ashkenazi BRCA1/2 Mutations in Families with Pancreatic Cancer
Dagan E
Genet Test 2008 Apr

MDM2 gene SNP309 T/G and p53 gene SNP72 G/C do not influence diffuse large B-cell non-Hodgkin lymphoma onset or survival in central European Caucasians
Bittenbring J, et al.
BMC Cancer 2008 Apr;8(1):116

Early onset lung cancer, cigarette smoking and the SNP309 of the murine double minute-2 (MDM2) gene
Mittelstrass KK, et al.
BMC Cancer 2008 Apr;8(1):113

Analysis of the RNASEL/HPC1, and Macrophage Scavenger Receptor 1 in Asian-Indian  Advanced Prostate Cancer
Rennert H, et al.
Urology 2008 Apr

Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk
Suchy J, et al.
BMC Cancer 2008 Apr;8(1):112

 

Endocrine, Nutritional and Metabolic Diseases

Catechol O-methyltransferase val158-met polymorphism is associated with abdominal obesity and blood pressure in men
Annerbrink K, et al.
Metabolism 2008 May;57(5):708-11

Genetic variation within the ANGPTL4 gene is not associated with metabolic traits in white subjects at an increased risk for type 2 diabetes mellitus
Staiger H, et al.
Metabolism 2008 May;57(5):637-43

Interleukin 4 receptor is associated with an increase in body mass index in Koreans
Ha E, et al.
Life Sci 2008 May;82(19-20):1040-3

The association of adiponectin allele 45T/G and -11377C/G polymorphisms with Type 2 diabetes and rosiglitazone response in Chinese patients
Sun H, et al.
Br J Clin Pharmacol 2008 Apr

Evaluation of the Association of IGF2BP2 Variants with Type 2 Diabetes in French  Caucasians
Duesing K, et al.
Diabetes 2008 Apr

an apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients
Pullinger CR, et al.
J Lipid Res 2008 Apr

Polymorphisms of the TAP 1 and 2 Gene May Influence Clinical Outcome of Primary Dengue Viral Infection
Soundravally R & Hoti SL
Scand J Immunol 2008 Apr

The haplotype identified in LEPR gene is associated with type 2 diabetes mellitus in Northern Chinese
Qu Y, et al.
Diabetes Res Clin Pract 2008 Apr

Passive smoking, cytochrome P450 gene polymorphisms and dysmenorrhea
Lei L, et al.
Eur J Epidemiol 2008 Apr

Association of a polymorphism of ABCB1 with obesity in Japanese individuals
Ichihara S, et al.
Genomics 2008 Apr

Differences in the Contribution of CTLA4 Gene to Susceptibility to Fulminant and  Type 1A Diabetes in Japanese Patients
Kawasaki E, et al.
Diabetes Care 2008 Apr

Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome
Tejada MI, et al.
Menopause 2008 Apr

A PPARG by Dietary Fat Interaction Influences Bone Mass in Mice and Humans
Ackert-Bicknell CL, et al.
J Bone Miner Res 2008 Apr

Impact of genetic polymorphisms of leptin and TNF-alpha on rosiglitazone response in Chinese patients with type 2 diabetes
Liu HL, et al.
Eur J Clin Pharmacol 2008 Apr

Association Analysis of European-Derived Type 2 Diabetes SNPs from Whole Genome Association Studies in African Americans
Lewis JP, et al.
Diabetes 2008 Apr

 

Mental Disorders

ADHD and Disruptive behavior scores - associations with MAO-A and 5-HTT genes and with platelet MAO-B activity in adolescents
Malmberg K, et al.
BMC Psychiatry 2008 Apr;8(1):28

Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians
Ehlers CL, et al.
BMC Med Genet 2008 Apr;9(1):35

Neither single-marker nor haplotype analyses support an association between monoamine oxidase A gene and bipolar disorder
Huang SY, et al.
Eur Arch Psychiatry Clin Neurosci 2008 Apr

Catechol-O-Methyltransferase Contributes to Genetic Susceptibility Shared Among Anxiety Spectrum Phenotypes
Hettema JM, et al.
Biol Psychiatry 2008 Apr

Neurotransmission and bipolar disorder: A systematic family-based association study
Shi J, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Apr

Genetic Variation in Dopamine Pathways Differentially Associated With Smoking Progression in Adolescence
Laucht M, et al.
J Am Acad Child Adolesc Psychiatry 2008 Apr

Interleukin-10 Gene Polymorphism is Associated with Alcoholism but not With Alcoholic Liver Disease
Marcos M, et al.
Alcohol Alcohol 2008 Apr

Association of limbic system-associated membrane protein (LSAMP) to male completed suicide
Must A, et al.
BMC Med Genet 2008 Apr;9(1):34

Association analysis of SCN9A gene variants with borderline personality disorder
Tadic A, et al.
J Psychiatr Res 2008 Apr

 

Diseases of the Nervous System and Sense Organs

Haplotypes Across ACE and the Risk of Alzheimer's Disease: The Three-City Study
Bruandet A, et al.
J Alzheimers Dis 2008 Jun;13(3):333-9

Mitochondrial Transcription Factor A (TFAM) Gene Variation and Risk of Late-Onset Alzheimer's Disease
Alvarez V, et al.
J Alzheimers Dis 2008 Jun;13(3):275-80

Variants in the 10q26 Gene Cluster (LOC387715 and HTRA1) Exhibit Enhanced Risk of Age-Related Macular Degeneration along with CFH in Indian Patients
Kaur I, et al.
Invest Ophthalmol Vis Sci 2008 May;49(5):1771-6

Genetic study between SIRT1, PPARD, PGC-1alpha genes and Alzheimer's disease
Helisalmi S, et al.
J Neurol 2008 Apr

Polymorphisms in the receptor for GDNF (RET) are not associated with Parkinson's  disease in Southern Germany
Lucking CB, et al.
Neurobiol Aging 2008 Apr

A luteinizing hormone receptor intronic variant is significantly associated with  decreased risk of Alzheimer's disease in males carrying an apolipoprotein E epsilon4 allele
Haasl RJ, et al.
BMC Med Genet 2008 Apr;9(1):37

Genotype--phenotype correlations between GBA mutations and Parkinson disease risk and onset
Gan-Or Z, et al.
Neurology 2008 Apr

Lack of association between Interleukin-18 gene promoter polymorphisms and onset  of Alzheimer's disease
Segat L, et al.
Neurobiol Aging 2008 Apr

Parental non-inherited HLA resistance alleles do not confer protection against multiple sclerosis
Ramagopalan SV, et al.
J Neuroimmunol 2008 Apr

Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 Genes
Soma H, et al.
Mov Disord 2008 Apr

Multidrug resistance in patients undergoing resective epilepsy surgery is not associated with C3435T polymorphism in the ABCB1 (MDR1) gene
Dericioglu N, et al.
Epilepsy Res 2008 Apr

VEGF Polymorphisms are Associated with Severity of Diabetic Retinopathy
Churchill A, et al.
Invest Ophthalmol Vis Sci 2008 Apr

Association study of the CFH Y402H polymorphism with Alzheimer's disease
Le Fur I, et al.
Neurobiol Aging 2008 Apr

 

Diseases of the Circulatory System

Association of a polymorphism in the lipin 1 gene with systolic blood pressure in men
Ong KL, et al.
Am J Hypertens 2008 May;21(5):539-45

The apolipoprotein E2 isoform is associated with accelerated onset of Coronary Artery Disease in Systemic Lupus Erythematosus
Orlacchio A, et al.
Med Sci Monit 2008 May;14(5):CR233-7

Paraoxonase 1 gene promoter polymorphisms are associated with the extent of stenosis in coronary arteries
Najafi M, et al.
Thromb Res 2008 Apr

Biomarkers of Inflammation and MRI-Defined Small Vessel Disease of the Brain. The Cardiovascular Health Study
Fornage M, et al.
Stroke 2008 Apr

Common CCR5-del32 Frameshift Mutation Associated With Serum Levels of Inflammatory Markers and Cardiovascular Disease Risk in the Bruneck Population
Afzal AR, et al.
Stroke 2008 Apr

Association of Fibrinogen and Fibrinogen Gene beta148 and beta854 Polymorphisms with Coronary Heart Disease
Sun AJ, et al.
Cardiology 2008 Apr;111(3):167-70

TLR2 and Age-Related Diseases: Potential Effects of Arg753Gln and Arg677Trp Polymorphisms in Acute Myocardial Infarction
Balistreri CR, et al.
Rejuvenation Res 2008 Apr;11(2):293-6

Association Between Fatty Acid Binding Protein 3 Gene Variants and Essential Hypertension in Humans
Ueno T, et al.
Am J Hypertens 2008 Apr

Genetic and functional association of FAM5C with myocardial infarction
Connelly JJ, et al.
BMC Med Genet 2008 Apr;9(1):33

Common Variants in Genes Underlying Monogenic Hypertension and Hypotension and Blood Pressure in the General Population
Tobin MD, et al.
Hypertension 2008 Apr

A polymorphic variant of the endoglin gene is associated with increased risk for  intracranial aneurysms in a Korean population
Joo SP, et al.
Surg Neurol 2008 Apr

Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected  patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study)
Hertel JK, et al.
Diabetologia 2008 Apr

Variation in PCSK9, low LDL cholesterol, and risk of peripheral arterial disease
Folsom AR, et al.
Atherosclerosis 2008 Mar

 

Diseases of the Respiratory System

Dust mite exposure modifies the effect of functional IL10 polymorphisms on allergy and asthma exacerbations
Hunninghake GM, et al.
J Allergy Clin Immunol 2008 Apr

Diseases of the Digestive System

Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis
Franke A, et al.
Nat Genet 2008 Apr

Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 and IL18RAP
Zhernakova A, et al.
Am J Hum Genet 2008 Apr

 

Diseases of the Genitourinary System

Association between (AC)n dinucleotide repeat polymorphism at the 5'-end of the aldose reductase gene and diabetic nephropathy: a meta-analysis
Xu M, et al.
J Mol Endocrinol 2008 May;40(5):243-51

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of interferon regulatory factor 5 haplotypes, similar to that found in systemic lupus erythematosus, in a large subgroup of patients with rheumatoid  arthritis
Dieguez-Gonzalez R, et al.
Arthritis Rheum 2008 Apr;58(5):1264-74

Variants within the COL5A1 gene are associated with achilles tendinopathy in two  populations
September AV, et al.
Br J Sports Med 2008 Apr

Association between promoter -1607 polymorphism of MMP1 and Lumbar Disc Disease in Southern Chinese
Song YQ, et al.
BMC Med Genet 2008 Apr;9(1):38

Genetic variation in the NF{kappa}B pathway in relation to susceptibility to rheumatoid arthritis
Dieguez-Gonzalez R, et al.
Ann Rheum Dis 2008 Apr

Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility
Barton A, et al.
Hum Mol Genet 2008 Apr

Absence of association of asporin polymorphisms and osteoarthritis susceptibility in US Caucasians
Atif U, et al.
Osteoarthritis Cartilage 2008 Apr

Association between the level of circulating bioactive tumor necrosis factor alpha and the tumor necrosis factor alpha gene polymorphism at -308 in patients with rheumatoid arthritis treated with a tumor necrosis factor alpha inhibitor
Marotte H, et al.
Arthritis Rheum 2008 Apr;58(5):1258-63

STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians
Palomino-Morales RJ, et al.
Prostate Cancer Prostatic Dis 2008 Apr

 

Congenital Anomalies

Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects
Brouns R, et al.
Prenat Diagn 2008 Apr

Eight-fold increased risk for congenital heart defects in children carrying the nicotinamide N-methyltransferase polymorphism and exposed to medicines and low nicotinamide
van Driel LM, et al.
Eur Heart J 2008 Apr

 

Symptoms, Signs and Ill-defined Conditions

Sepsis syndrome and death in trauma patients are associated with variation in the gene encoding tumor necrosis factor*
Menges T, et al.
Crit Care Med 2008 Apr

Lack of association of the Trp64Arg polymorphism of beta3-adrenergic receptor gene with energy expenditure in response to caffeine among young healthy women
Hamada T, et al.
Tohoku J Exp Med 2008 Apr;214(4):365-70

Study on a possible effect of four longevity candidate genes (ACE, PON1, PPAR-gamma, and APOE) on human fertility
Corbo RM, et al.
Biogerontology 2008 Apr

 

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Page last reviewed: May 1, 2008 (archived document)
Content Source: National Office of Public Health Genomics