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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
March 8, 2007
Volume 18, No. 10

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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

SOD2 polymorphisms: Unmasking the effect of polymorphism on splicing
Shao J, et al.
BMC Med Genet 2007 Mar;8(1):7

Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry
Alonso MJ, et al.
Ann Hum Genet 2007 Mar;71(Pt 2):194-201

 

Infectious and Parasitic Diseases

Vitamin D receptor gene polymorphisms and susceptibility M. tuberculosis in Native Paraguayans
Wilbur AK, et al.
Tuberculosis (Edinb) 2007 Mar

Genetic variation at the TNF locus and the risk of severe sequelae of ocular Chlamydia trachomatis infection in Gambians
Natividad A, et al.
Genes Immun 2007 Mar

CCL3L1 and CCL4L1: variable gene copy number in adolescents with and without human immunodeficiency virus type 1 (HIV-1) infection
Shao W, et al.
Genes Immun 2007 Mar

Multidrug resistance 1 polymorphisms and trough concentrations of atazanavir and lopinavir in patients with HIV
Ma Q, et al.
Pharmacogenomics 2007 Mar;8(3):227-35

Generic human leukocyte antigen class II (DRB1 and DQB1) alleles in patients with paracoccidioidomycosis
Sadahiro A, et al.
Med Mycol 2007 Feb;45(1):35-40

High Prevalence of The CCR5Delta32 HIV-Resistance Mutation among Estonian HIV Type 1-Infected Individuals
Adojaan M, et al.
AIDS Res Hum Retroviruses 2007 Feb;23(2):193-7

 

Neoplasms

Haplotypes, loss of heterozygosity, and expression levels of glycine N-methyltransferase in prostate cancer
Huang YC, et al.
Clin Cancer Res 2007 Mar;13(5):1412-20

Excess Transmission of the NAD(P)H:Quinone Oxidoreductase 1 (NQO1) C609T Polymorphism in Families of Children with Acute Lymphoblastic Leukemia
Infante-Rivard C, et al.
Am J Epidemiol 2007 Mar

The survival outcomes of patients with resected non-small cell lung cancer differ according to EGFR mutations and the P21 expression
Na II, et al.
Lung Cancer 2007 Mar

Genetic Variation at the CYP19A1 Locus Predicts Circulating Estrogen Levels but not Breast Cancer Risk in Postmenopausal Women
Haiman CA, et al.
Cancer Res 2007 Mar;67(5):1893-7

Interleukin-4 promoter polymorphisms: a genetic prognostic factor for survival in metastatic renal cell carcinoma
Kleinrath T, et al.
J Clin Oncol 2007 Mar;25(7):845-51

 

Endocrine, Nutritional and Metabolic Diseases

Gender differences in the association of gene polymorphisms with type 2 diabetes mellitus
Yamaguchi S, et al.
Int J Mol Med 2007 Apr;19(4):631-7

A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene
Howson JM, et al.
Diabetologia 2007 Apr;50(4):741-6

A genome-wide search for linkage to renal function phenotypes in west africans with type 2 diabetes
Chen G, et al.
Am J Kidney Dis 2007 Mar;49(3):394-400

Lamin a/c polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies
Mesa JL, et al.
Diabetes 2007 Mar;56(3):884-9

Activating Transcription Factor 6 (ATF6) Sequence Polymorphisms in Type 2 Diabetes and Pre-Diabetic Traits
Chu WS, et al.
Diabetes 2007 Mar;56(3):856-62

Common Variation in LMNA Increases Susceptibility to Type 2 Diabetes and Associates With Elevated Fasting Glycemia and Estimates of Body Fat and Height in the General Population: Studies of 7,495 Danish Whites
Wegner L, et al.
Diabetes 2007 Mar;56(3):694-8

NOS3 Polymorphisms Are Associated With Arterial Stiffness in Children With Type 1 Diabetes
Zineh I, et al.
Diabetes Care 2007 Mar;30(3):689-93

Common Variation in the LMNA Gene (Encoding Lamin A/C) and Type 2 Diabetes: Association Analyses in 9,518 Subjects
Owen KR, et al.
Diabetes 2007 Mar;56(3):879-83

Analysis of Genetic Variation in Akt2/PKB-{beta} in Severe Insulin Resistance, Lipodystrophy, Type 2 Diabetes, and Related Metabolic Phenotypes
Tan K, et al.
Diabetes 2007 Mar;56(3):714-9

Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes
Winckler W, et al.
Diabetes 2007 Mar;56(3):685-93

Investigation of the Estrogen Receptor-{alpha} Gene With Type 2 Diabetes and/or Nephropathy in African-American and European-American Populations
Gallagher CJ, et al.
Diabetes 2007 Mar;56(3):675-84

Genetic variation, C-reactive protein levels, and incidence of diabetes
Dehghan A, et al.
Diabetes 2007 Mar;56(3):872-8

Informative-transmission disequilibrium test (i-TDT): combined linkage and association mapping that includes unaffected offspring as well as affected offspring
Guo CY, et al.
Genet Epidemiol 2007 Feb;31(2):115-33

 

Mental Disorders

No preferential transmission of paternal alleles at risk genes in attention-deficit hyperactivity disorder
Laurin N, et al.
Mol Psychiatry 2007 Mar;12(3):226-9

Support for the MnlI polymorphism of SNAP25; a Korean ADHD case-control study
Choi TK, et al.
Mol Psychiatry 2007 Mar;12(3):224-6

 

Diseases of the Nervous System and Sense Organs

Spectrum of the ABCA4 Gene Mutations Implicated in Severe Retinopathies in Spanish Patients
Valverde D, et al.
Invest Ophthalmol Vis Sci 2007 Mar;48(3):985-90

The LOC387715 Polymorphism and Age-Related Macular Degeneration: Replication in Three Case-Control Samples
Ross RJ, et al.
Invest Ophthalmol Vis Sci 2007 Mar;48(3):1128-32

Mutations in the Gene Coding for the Pre-mRNA Splicing Factor, PRPF31, in Patients with Autosomal Dominant Retinitis Pigmentosa
Waseem NH, et al.
Invest Ophthalmol Vis Sci 2007 Mar;48(3):1330-4

Meta-analysis in genome-wide association datasets: strategies and application in Parkinson disease
Evangelou E, et al.
PLoS ONE 2007;2:e196

 

Diseases of the Circulatory System

 Prevalence of CCR5Delta32 polymorphism in long-term survivors of heart transplantation
Hummel M, et al.
Transpl Immunol 2007 Apr;17(3):223-6

Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals
Yamada Y, et al.
Int J Mol Med 2007 Apr;19(4):675-83

Polymorphisms of the Renin-Angiotensin system genes predict progression of subclinical coronary atherosclerosis
Kretowski A, et al.
Diabetes 2007 Mar;56(3):863-71

Effect of a common X-linked angiotensin II type 2-receptor gene polymorphism (-1332 G/A) on the occurrence of premature myocardial infarction and stenotic atherosclerosis requiring revascularization
Alfakih K, et al.
Atherosclerosis 2007 Mar

The -50G>T Polymorphism in the Promoter of the CYP2J2 Gene in Coronary Heart Disease: The Ludwigshafen Risk and Cardiovascular Health Study
Hoffmann MM, et al.
Clin Chem 2007 Mar;53(3):539-40

Factor XIII Val34Leu variant protects against coronary artery disease. A meta-analysis
Voko Z, et al.
Thromb Haemost 2007 Mar;97(3):458-63

Homocysteine, 5,10-Methylenetetrahydrofolate Reductase 677C>T Polymorphism, Nutrient Intake, and Incident Cardiovascular Disease in 24,968 Initially Healthy Women
Zee RY, et al.
Clin Chem 2007 Mar

The -11377 C > G promoter variant of the adiponectin gene, prevalence of coronary atherosclerosis, and incidence of vascular events in men
Hoefle G, et al.
Thromb Haemost 2007 Mar;97(3):451-7

Screening of the endothelin1 gene (EDN1) in a cohort of patients with essential left ventricular hypertrophy
Castro MG, et al.
Ann Hum Genet 2007 Mar

Toll Receptor Polymorphisms and Carotid Artery Intima-Media Thickness
Labrum R, et al.
Stroke 2007 Mar

MTHFR 677 CT/MTHFR 1298 CC genotypes are associated with increased risk of hypertension in Indians
Markan S, et al.
Mol Cell Biochem 2007 Mar

IL1RN VNTR Polymorphism in Ischemic Stroke. Analysis in 3 Populations
Worrall BB, et al.
Stroke 2007 Mar

G20210A Prothrombin gene variant in Turkish patients with angiographically documented coronary artery disease
Gundogdu F, et al.
J Thromb Thrombolysis 2007 Mar

Association of eNOS Glu298Asp gene polymorphism with circadian blood pressure rhythm
Ormezzano O, et al.
J Hum Hypertens 2007 Mar

Apolipoprotein E epsilon4 allele frequency in elderly depressed patients with and without cerebrovascular disease
Traykov L, et al.
J Neurol Sci 2007 Mar

 

Diseases of the Respiratory System

TNF Polymorphisms Modify Endotoxin Exposure Associated Longitudinal Lung Function Decline
Zhang H, et al.
Occup Environ Med 2007 Mar

Polymorphisms of interleukin-10 and its receptor and lung function in COPD
He JQ, et al.
Eur Respir J 2007 Mar

Genetic polymorphisms in transforming growth factor beta-1 (TGFB1) and childhood asthma and atopy
Li H, et al.
Hum Genet 2007 Feb

PPARG Locus Haplotype Variation and Exacerbations in Asthma
Palmer CN, et al.
Clin Pharmacol Ther 2007 Feb

 

Diseases of the Digestive System

IL23R Arg381Gln is associated with childhood onset inflammatory bowel disease in Scotland
Van Limbergen JE, et al.
Gut 2007 Mar

Lack of association of the 3'-UTR polymorphism in the NFKBIA gene with Crohn's disease in an Israeli cohort
Leshinsky-Silver E, et al.
Int J Colorectal Dis 2007 Mar

The Combined Genotypes of Stimulatory and Inhibitory Fcgamma Receptors Associated With Systemic Lupus Erythematosus and Periodontitis in Japanese Adults
Kobayashi T, et al.
J Periodontol 2007 Mar;78(3):467-74

Polymorphisms Within the IL-1 Gene Cluster: Effects on Cytokine Profiles in Peripheral Blood and Whole Blood Cell Cultures of Patients With Aggressive Periodontitis, Juvenile Idiopathic Arthritis, and Rheumatoid Arthritis
Havemose-Poulsen A, et al.
J Periodontol 2007 Mar;78(3):475-92

Association of Interleukin-10 Gene Polymorphisms With Severe Generalized Chronic Periodontitis
Sumer AP, et al.
J Periodontol 2007 Mar;78(3):493-7

 

Diseases of the Genitourinary System

Associations between the CYBA 242C/T and the MPO -463G/A Polymorphisms, Oxidative Stress and Cardiovascular Disease in Chronic Kidney Disease Patients
Grahl DA, et al.
Blood Purif 2007 Mar;25(2):210-8

Estrogen receptor beta gene +1730 G/A polymorphism in women with endometriosis
Lee GH, et al.
Fertil Steril 2007 Mar

 

Diseases of the Skin and Subcutaneous Tissue

Might there be a link between mannose binding lectin and vitiligo?
Onay H, et al.
Eur J Dermatol 2007 Mar;17(2):146-8

 

Diseases of the Musculoskeletal System and Connective Tissue

Epistatic Interactions between Genomic Regions Containing the COL1A1 Gene and Genes Regulating Osteoclast Differentiation may Influence Femoral Neck Bone Mineral Density
Yang TL, et al.
Ann Hum Genet 2007 Mar;71(Pt 2):152-9

Association of the diplotype configuration at the N-acetyltransferase 2 gene with adverse events by co-trimoxazole in Japanese patients with systemic lupus erythematosus
Soejima M, et al.
Arthritis Res Ther 2007 Mar;9(2):R23

CYP3A7*1C Polymorphism, Serum Dehydroepiandrosterone Sulfate Level, and Bone Mineral Density in Postmenopausal Women
Bacsi K, et al.
Calcif Tissue Int 2007 Mar

A New Classification of HLA-DRB1 Alleles Differentiates Predisposing and Protective Alleles for Autoantibody Production in Rheumatoid Arthritis
Gourraud PA, et al.
Arthritis Res Ther 2007 Mar;9(2):R21

 

Congenital Anomalies

MSX1 polymorphism associated with risk of oral cleft in Korea: evidence from case-parent trio and case-control studies
Park J, et al.
Yonsei Med J 2007 Feb;48(1):101-8

 

Injury and Poisoning

Role of GSTT1 deletion in DNA oxidative damage by exposure to polycyclic aromatic hydrocarbons in humans
Garte S, et al.
Int J Cancer 2007 Mar

Levels of 2-thiothiazolidine-4-carboxylic acid (TTCA) and effect modification of polymorphisms of glutathione-related genes in vulcanization workers in the southern Sweden rubber industries
Jonsson LS, et al.
Int Arch Occup Environ Health 2007 Feb

 

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