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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
May 11, 2006
Volume 16, No. 19

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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

Polymorphism of PRNP codons in the normal Icelandic population
Georgsson G, et al.
Acta Neurol Scand 2006 Jun;113(6):419-25

 

Infectious and Parasitic Diseases

The ICAM-1 469 T/C gene polymorphism but not 241 G/A is associated with Behcets disease in the Lebanese population
Chmaisse HN, et al.
Saudi Med J 2006 May;27(5):604-7

IL-18 gene promoter polymorphism is involved in HIV-1 infection in a Brazilian pediatric population
Segat L, et al.
Immunogenetics 2006 May

Four-digit allele genotyping of the HLA-A and HLA-B genes in Japanese patients with Behcet's disease by a PCR-SSOP-Luminex method
Itoh Y, et al.
Tissue Antigens 2006 May;67(5):390-4

 

Neoplasms

NAT2 slow acetylation and bladder cancer in workers exposed to benzidine Carreon T, Ruder AM, Schulte PA, Hayes RB, Rothman N, Waters M, Grant DJ, Boissy R, Bell DA, Kadlubar FF, Hemstreet GP III, Yin S, LeMasters GK, Division of Surveillance, Hazard Eval
See WA
Urol Oncol 2006 May-2006 Jun;24(3):273

The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer
Stredrick DL, et al.
Hum Mutat 2006 May

DNA repair gene polymorphisms and probability of p53 mutation in bladder cancer
Stern MC, et al.
Mol Carcinog 2006 May

High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma
Biron-Shental T, et al.
Eur J Surg Oncol 2006 Apr

Linkage Disequilibrium Mapping of CHEK2: Common Variation and Breast Cancer Risk
Einarsdottir K, et al.
PLoS Med 2006 May;3(6):e168

A novel T-77C polymorphism in DNA repair gene XRCC1 contributes to diminished promoter activity and increased risk of non-small cell lung cancer
Hao B, et al.
Oncogene 2006 May

A common variant associated with prostate cancer in European and African populations
Amundadottir LT, et al.
Nat Genet 2006 May

FANCD2 associated with sporadic breast cancer risk
Barroso E, et al.
Carcinogenesis 2006 May

MDM2 gene promoter polymorphisms and risk of lung cancer: a case-control analysis
Li G, et al.
Carcinogenesis 2006 May

SNP-SNP interactions in breast cancer susceptibility
Onay VU, et al.
BMC Cancer 2006 May;6(1):114

FCGR2A Polymorphism Is Correlated With Clinical Outcome Following Immunotherapy of Neuroblastoma With Anti-GD2 Antibody and Granulocyte Macrophage Colony-Stimulating Factor
Cheung NK, et al.
J Clin Oncol 2006 May

Genetic variation in interleukin 8 and its receptor genes and its influence on the risk and prognosis of prostate cancer among Finnish men in a large cancer prevention trial
Yang HP, et al.
Eur J Cancer Prev 2006 Jun;15(3):249-53

Importance of xeroderma pigmentosum group D polymorphisms in susceptibility to ovarian cancer
Costa S, et al.
Cancer Lett 2006 May

Angiotensin I-converting enzyme gene polymorphism modifies the smoking-cancer association: the Hisayama Study
Arima H, et al.
Eur J Cancer Prev 2006 Jun;15(3):196-201

 

Endocrine, Nutritional and Metabolic Diseases

Obesity is Associated with Genetic Variants That Alter Dopamine Availability
Need AC, et al.
Ann Hum Genet 2006 May;70(Pt 3):293-303

Endogenous Histamine and Cortisol Levels in Subjects with Different Histamine N-Methyltransferase C314T Genotypes : A Pilot Study
Hon YY, et al.
Mol Diagn Ther 2006;10(2):109-14

Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids
Schaeffer L, et al.
Hum Mol Genet 2006 May

The 1858T PTPN22 gene variant contributes to a genetic risk of type 1 diabetes in a Ukrainian population
Fedetz M, et al.
Tissue Antigens 2006 May;67(5):430-3

Chronic renal insufficiency among Asian Indians with Type 2 diabetes: I. Role of RAAS gene polymorphisms
Prasad P, et al.
BMC Med Genet 2006 May;7(1):42

Heritability of serum resistin and its genetic correlation with insulin resistance-related features in non-diabetic Caucasians
Menzaghi C, et al.
J Clin Endocrinol Metab 2006 May

PPAR-gamma2 Pro12Ala polymorphism is associated with weight gain in women with gestational diabetes mellitus
Tok EC, et al.
Eur J Obstet Gynecol Reprod Biol 2006 May

Promoter region -318 C/ T and -1661 A/G CTLA-4 single nucleotide polymorphisms and type 1 diabetes in North Indians
Baniasadi V, et al.
Tissue Antigens 2006 May;67(5):383-9

Frequency of common HFE variants in the Saudi population: A high throughput molecular beacon-based study
Alsmadi OA, et al.
BMC Med Genet 2006 May;7(1):43

Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population
Cheyssac C, et al.
BMC Med Genet 2006 May;7(1):44

The MTHFR CT polymorphism confers a high risk for stroke in both homozygous and heterozygous T allele carriers with Type 2 diabetes
Hermans MP, et al.
Diabet Med 2006 May;23(5):529-36

Genetic testing of minors for alpha1-antitrypsin deficiency
Strange C, et al.
Arch Pediatr Adolesc Med 2006 May;160(5):531-4

Association of a polymorphism in the betacellulin gene with type 1 diabetes mellitus in two populations
Silver KD, et al.
J Mol Med 2006 May

 

Diseases of the Blood and Blood-Forming Organs Disorders

The influence of sequence variations in factor VII, gamma-glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement
Herman D, et al.
Thromb Haemost 2006 May;95(5):782-7

High prevalence of inherited prothrombotic risk factors in 134 consecutive patients with von Willebrand disease
Franchini M, et al.
Am J Hematol 2006 May;81(6):465-7

 

Mental Disorders

No association of 5-HT(2C), 5-HT(6), and tryptophan hydroxylase-1 gene polymorphisms with personality traits in the Japanese population
Tochigi M, et al.
Neurosci Lett 2006 May

Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder
Barden N, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 May

{micro} Opioid receptor A118G polymorphism in association with striatal opioid neuropeptide gene expression in heroin abusers
Drakenberg K, et al.
Proc Natl Acad Sci U S A 2006 May

Meta-analysis of Association Between a Catechol-O-Methyltransferase Gene Polymorphism and Attention Deficit Hyperactivity Disorder
Cheuk DK & Wong V
Behav Genet 2006 May

The association between high-density lipoprotein cholesterol level and cholesteryl ester transfer protein TaqIB gene polymorphism is influenced by alcohol drinking in a population-based sample
Tsujita Y, et al.
Atherosclerosis 2006 May

Association of mu-Opioid Receptor Gene Polymorphism A118G with Alcohol Dependence in a Japanese Population
Nishizawa D, et al.
Neuropsychobiology 2006 May;53(3):137-41

 

Diseases of the Nervous System and Sense Organs

Stability of CSF beta-Amyloid(1-42) and Tau Levels by APOE Genotype in Alzheimer Patients
Huey ED, et al.
Dement Geriatr Cogn Disord 2006 May;22(1):48-53

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: Should all sporadic ALS cases also be screened for SOD1?
Gamez J, et al.
J Neurol Sci 2006 May

APOE epsilon variation in multiple sclerosis susceptibility and disease severity: Some answers
Burwick RM, et al.
Neurology 2006 May;66(9):1373-83

Weak independent association signals between IDE polymorphisms, Alzheimer's disease and cognitive measures
Mueller JC, et al.
Neurobiol Aging 2006 May

An Analysis Paradigm for Investigating Multi-locus Effects in Complex Disease: Examination of Three GABA Receptor Subunit Genes on 15q11-q13 as Risk Factors for Autistic Disorder
Ashley-Koch AE, et al.
Ann Hum Genet 2006 May;70(Pt 3):281-92

Coronary artery disease is associated with Alzheimer disease neuropathology in APOE4 carriers
Beeri MS, et al.
Neurology 2006 May;66(9):1399-404

Serotonin transporter promoter variants: Analysis in Indian autistic and control population
Guhathakurta S, et al.
Brain Res 2006 May

Genetic risk factors associated with lipid-lowering drug-induced myopathies
Vladutiu GD, et al.
Muscle Nerve 2006 May

The cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer disease
Riemenschneider M, et al.
Hum Mutat 2006 May

Mitochondrial D-Loop Variation in Persian Multiple Sclerosis Patients: K and A Haplogroups as a Risk Factor
Kumleh HH, et al.
Cell Mol Neurobiol 2006 May

Clinical behavior of multiple sclerosis is modulated by the MHC class I-chain-related gene A
Fdez-Morera JL, et al.
Tissue Antigens 2006 May;67(5):409-14

The Effect of Apolipoprotein Polymorphism on Brain in Mild Cognitive Impairment: A Voxel-Based Morphometric Study
Pennanen C, et al.
Dement Geriatr Cogn Disord 2006 May;22(1):60-6

Diseases of the Circulatory System

Association of Phosphodiesterase 4D Polymorphisms With Ischemic Stroke in a US Population Stratified by Hypertension Status
Brophy VH, et al.
Stroke 2006 May

Effects of Fractalkine Receptor Variants on Common Carotid Artery Intima-Media Thickness
Norata GD, et al.
Stroke 2006 May

Genetic variants in the glucocorticoid receptor gene (NR3C1) and cardiovascular disease risk. The Leiden 85-plus Study
Kuningas M, et al.
Biogerontology 2006 May

Factor V Leiden and increased risk for arterial thrombotic disease in young Brazilian patients
de Paula Sabino A, et al.
Blood Coagul Fibrinolysis 2006 Jun;17(4):271-5

Polymorphism in the {beta}2-Adrenergic Receptor and Lipoprotein Lipase Genes as Risk Determinants for Idiopathic Venous Thromboembolism. A Multilocus, Population-Based, Prospective Genetic Analysis
Zee RY, et al.
Circulation 2006 May

Antithrombotic effects of aspirin based on PLA1/A2 glycoprotein IIIa polymorphism in patients with coronary artery disease
Dropinski J, et al.
Thromb Res 2006 May

Angiotensin Type-1 Receptor A1166C Gene Polymorphism Correlates With Oxidative Stress Levels in Human Heart Failure
Cameron VA, et al.
Hypertension 2006 May

Interleukin-6 and interleukin-6 promoter polymorphism (-174) G > C in patients with spontaneous venous thromboembolism
Vormittag R, et al.
Thromb Haemost 2006 May;95(5):802-6

The -1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study
Martinelli N, et al.
Atherosclerosis 2006 May

The overlapping of local iron overload and HFE mutation in venous leg ulcer pathogenesis
Zamboni P, et al.
Free Radic Biol Med 2006 May;40(10):1869-73

Do allelic variants of the connexin37 1019 gene polymorphism differentially predict for coronary artery disease and myocardial infarction?
Wong CW, et al.
Atherosclerosis 2006 May

Genotype Related Differences in beta2 Adrenergic Receptor Density and Cardiac Function
Snyder EM, et al.
Med Sci Sports Exerc 2006 May;38(5):882-6

 

 

Diseases of the Respiratory System

The interferon gamma gene polymorphism +874 A/T is associated with severe acute respiratory syndrome
Chong WP, et al.
BMC Infect Dis 2006 May;6(1):82

ADAM33 polymorphisms are associated with asthma susceptibility in a Japanese population
Noguchi E, et al.
Clin Exp Allergy 2006 May;36(5):602-8

CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study
Munthe-Kaas MC, et al.
Respir Med 2006 May

 

Diseases of the Digestive System

MICB microsatellite polymorphism is associated with ulcerative colitis in Chinese population
Lu M, et al.
Clin Immunol 2006 May

Association of CTLA-4 Gene Microsatellite Polymorphism With Ulcerative Colitis in Chinese Patients
Jiang Y, et al.
Inflamm Bowel Dis 2006 May;12(5):369-73

Increased intestinal permeability and NOD2 variants in familial and sporadic Crohn's disease
D'Inca R, et al.
Aliment Pharmacol Ther 2006 May;23(10):1455-61

Relationship Between CARD15, SLC22A4/5, and DLG5 Polymorphisms and Early-Onset Inflammatory Bowel Diseases: An Italian Multicentric Study
Ferraris A, et al.
Inflamm Bowel Dis 2006 May;12(5):355-61

DLG5 R30Q Is Not Associated With IBD in Hungarian IBD Patients but Predicts Clinical Response to Steroids in Crohn's Disease
Lakatos PL, et al.
Inflamm Bowel Dis 2006 May;12(5):362-8

The PTPN22 1858T variant is not associated with primary biliary cirrhosis
Milkiewicz P, et al.
Tissue Antigens 2006 May;67(5):434-7

 

Diseases of the Genitourinary System

Adiponectin and resistin in PCOS: a clinical, biochemical and molecular genetic study
Escobar-Morreale HF, et al.
Hum Reprod 2006 May

A Frequent Partial AZFc Deletion does not Render an Increased Risk of Spermatogenic Impairment in East Asians
Zhang F, et al.
Ann Hum Genet 2006 May;70(Pt 3):304-13

Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest
Sato H, et al.
J Hum Genet 2006 May

The Relationship of Transforming Growth Factor-beta1 Gene Polymorphism, Its Plasma Level, and Gingival Overgrowth in Renal Transplant Recipients Receiving Different Immunosuppressive Regimens
Radwan-Oczko M, et al.
J Periodontol 2006 May;77(5):865-73

 

Diseases of the Skin and Subcutaneous Tissue

No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis
Chang YT, et al.
Clin Exp Dermatol 2006 May;31(3):419-23

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK
Tasker PN, et al.
Osteoporos Int 2006 May

HLA-DRB1 association in Saudi rheumatoid arthritis patients
Al-Swailem R, et al.
Rheumatol Int 2006 May

Interleukin-18 promoter polymorphism in patients with rheumatoid arthritis
Pawlik A, et al.
Tissue Antigens 2006 May;67(5):415-8

No association between chronic musculoskeletal complaints and Val/Met polymorphism in the Catechol-O-methyltransferase gene. The HUNT Study
Hagen K, et al.
BMC Musculoskelet Disord 2006 May;7(1):40

Role of SLC22A4, SLC22A5, and RUNX1 Genes in Rheumatoid Arthritis
Martinez A, et al.
J Rheumatol 2006 May;33(5):842-6

Lack of association between mannose-binding lectin gene polymorphisms and juvenile idiopathic arthritis in a Han population from the Hubei province of China
Kang M, et al.
Arthritis Res Ther 2006 May;8(4):R85

 

Congenital Anomalies

A Mutation in RYK Is a Genetic Factor for Nonsyndromic Cleft Lip and Palate
Watanabe A, et al.
Cleft Palate Craniofac J 2006 May;43(3):310-6

Study of the PVRL1 Gene in Italian Nonsyndromic Cleft Lip Patients with or without Cleft Palate
Scapoli L, et al.
Ann Hum Genet 2006 May;70(Pt 3):410-3

Loss of function polymorphisms in NAT1 protect against spina bifida
Jensen LE, et al.
Hum Genet 2006 May

 

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
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