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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 2, 2006
Volume 16, No. 5

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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

Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity
Matas M, et al.
Clin Genet 2006 Feb;69(2):155-62

Identification by single-strand conformational polymorphism analysis of known and new mutations of the CYP3A5 gene in a French population
Quaranta S, et al.
Toxicol Lett 2006 Jan

HLA-A, -B, and -DRB1 polymorphism defined by sequence-based typing of the Han population in Northern China
Yang G, et al.
Tissue Antigens 2006 Feb;67(2):146-52

A haplotype framework for cystic fibrosis mutations in iran
Elahi E, et al.
J Mol Diagn 2006 Feb;8(1):119-27

Variation of the N-acetyltransferase 2 gene in a romanian and a kyrgyz population
Rabstein S, et al.
Cancer Epidemiol Biomarkers Prev 2006 Jan;15(1):138-41

Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays
Zilfalil BA, et al.
Singapore Med J 2006 Feb;47(2):129-33

 

Infectious and Parasitic Diseases

Interleukin-10-1082 promoter polymorphism in association with cytokine production and sepsis susceptibility
Stanilova SA, et al.
Intensive Care Med 2006 Jan:1-7

Interpatient variability in the pharmacokinetics of the HIV non-nucleoside reverse transcriptase inhibitor efavirenz: the effect of gender, race, and CYP2B6 polymorphism
Burger D, et al.
Br J Clin Pharmacol 2006 Feb;61(2):148-54

Effect of various genetic polymorphisms on the incidence and outcome of severe sepsis
Sipahi T, et al.
Clin Appl Thromb Hemost 2006 Jan;12(1):47-54

Impact of MCP-1-2518-G allele on the HIV-1 disease of children in the United States
Singh KK, et al.
AIDS 2006 Feb;20(3):475-8

The association between microsatellite polymorphisms in intron II of the human Toll-like receptor 2 gene and tuberculosis among Koreans
Yim JJ, et al.
Genes Immun 2006 Jan

 

Neoplasms

Association of prolactin and its receptor gene regions with familial breast cancer
Vaclavicek A, et al.
J Clin Endocrinol Metab 2006 Jan

Effect of NAT1 and NAT2 Genetic Polymorphisms on Colorectal Cancer Risk Associated with Exposure to Tobacco Smoke and Meat Consumption
Lilla C, et al.
Cancer Epidemiol Biomarkers Prev 2006 Jan;15(1):99-107

BACH1 Ser919Pro variant and breast cancer risk
Vahteristo P, et al.
BMC Cancer 2006 Jan;6(1):19

Association of HLA DQ4-DR8 haplotype with papillary thyroid carcinomas
Porto T, et al.
Clin Endocrinol (Oxf) 2006 Feb;64(2):179-83

Correlation of interleukin-10 gene haplotype with hepatocellular carcinoma in Taiwan
Tseng LH, et al.
Tissue Antigens 2006 Feb;67(2):127-33

The AIB1 Polyglutamine Repeat Does Not Modify Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Spurdle AB, et al.
Cancer Epidemiol Biomarkers Prev 2006 Jan;15(1):76-9

Combined Effects of the p53 and p73 Polymorphisms on Lung Cancer Risk
Schabath MB, et al.
Cancer Epidemiol Biomarkers Prev 2006 Jan;15(1):158-61

Catechol-O-methyltransferase polymorphism is associated with increased uterine leiomyoma risk in different ethnic groups
Al-Hendy A & Salama SA
J Soc Gynecol Investig 2006 Feb;13(2):136-44

HLA class II polymorphisms in Spanish melanoma patients: homozygosity for HLA-DQA1 locus can be a potential melanoma risk factor
Planelles D, et al.
Br J Dermatol 2006 Feb;154(2):261-6

The allelic distribution of -308 Tumor Necrosis Factor-alpha gene polymorphism in South African women with cervical cancer and control women
Govan VA, et al.
BMC Cancer 2006 Jan;6(1):24

Genetic polymorphisms and haplotypes of DNA repair genes in childhood acute lymphoblastic leukemia
Pakakasama S, et al.
Pediatr Blood Cancer 2006 Jan

 

Endocrine, Nutritional and Metabolic Diseases

Sequence variants in the melatonin-related receptor (GPR50) gene associate with circulating triglyceride and HDL levels
Bhattacharyya S, et al.
J Lipid Res 2006 Jan

Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever
Belmahi L, et al.
C R Biol 2006 Feb;329(2):71-4

NFkappaB1 gene does not affect type 1 diabetes predisposition in a Spanish population
Martinez A, et al.
Tissue Antigens 2006 Feb;67(2):143-5

Gene by Environment Interaction: The -159C/T Polymorphism in the Promoter Region of the CD14 Gene Modifies the Effect of Alcohol Consumption on Serum IgE Levels
Campos J, et al.
Alcohol Clin Exp Res 2006 Jan;30(1):7-14

IL-18 gene polymorphism confers susceptibility to the development of anti-GAD65 antibody in Graves' disease
Hiromatsu Y, et al.
Diabet Med 2006 Feb;23(2):211-5

Lp-PLA2 activity and PLA2G7 A379V genotype in patients with diabetes mellitus
Wootton PT, et al.
Atherosclerosis 2006 Jan

Analysis of Polymorphisms of the Interleukin-18 Gene in Type 1 Diabetes and Hardy-Weinberg Equilibrium Testing
Szeszko JS, et al.
Diabetes 2006 Feb;55(2):559-62

Sequence variants of the secreted phosphoprotein 1 gene are associated with total serum immunoglobulin E levels in a Japanese population
Tanino Y, et al.
Clin Exp Allergy 2006 Feb;36(2):219-25

Peroxisome proliferator-activated receptor gamma coactivator-1alpha gene variations are not associated with gestational diabetes mellitus
Leipold H, et al.
J Soc Gynecol Investig 2006 Feb;13(2):104-7

ACDC/Adiponectin Polymorphisms Are Associated With Severe Childhood and Adult Obesity
Bouatia-Naji N, et al.
Diabetes 2006 Feb;55(2):545-50

Interactions Between Noncontiguous Haplotypes in the Adiponectin Gene ACDC Are Associated With Plasma Adiponectin
Woo JG, et al.
Diabetes 2006 Feb;55(2):523-9

Identification of TUB as a Novel Candidate Gene Influencing Body Weight in Humans
Shiri-Sverdlov R, et al.
Diabetes 2006 Feb;55(2):385-9

Genetic Architecture of the APM1 Gene and Its Influence on Adiponectin Plasma Levels and Parameters of the Metabolic Syndrome in 1,727 Healthy Caucasians
Heid IM, et al.
Diabetes 2006 Feb;55(2):375-84

Analysis of G(-174)C IL-6 polymorphism and plasma concentrations of inflammatory markers in patients with type 2 diabetes and peripheral arterial disease
Libra M, et al.
J Clin Pathol 2006 Feb;59(2):211-5

G-protein beta3 Subunit Gene Variant (C825T) is Unlikely to Have a Significant Influence on Serum Total Cholesterol Level in Japanese Workers
Suwazono Y, et al.
Clin Exp Hypertens 2006 Jan;28(1):47-56

Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes
Barroso I, et al.
Diabetologia 2006 Jan:1-5

 

Diseases of the Blood and Blood-Forming Organs Disorders

Increased Deformability of Red Blood Cells is Associated with a Deletion Polymorphism of the Angiotensin-Converting Enzyme Gene
Bor-Kucukatay M, et al.
Tohoku J Exp Med 2006 Feb;208(2):147-55

 

Mental Disorders

Do alcohol-metabolizing enzyme gene polymorphisms increase the risk of alcoholism and alcoholic liver disease?
Zintzaras E, et al.
Hepatology 2006 Jan;43(2):352-61

Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia
Wang H, et al.
J Neural Transm 2006 Jan

Association between serotonergic candidate genes and specific phenotypes of obsessive compulsive disorder
Denys D, et al.
J Affect Disord 2006 Jan

Cloninger's temperament dimensions and epidermal growth factor A61G polymorphism in Finnish adults
Keltikangas-Jarvinen L, et al.
Genes Brain Behav 2006 Feb;5(1):11-8

The interaction between TPH2 promoter haplotypes and clinical-demographic risk factors in suicide victims with major psychoses
De Luca V, et al.
Genes Brain Behav 2006 Feb;5(1):107-10

No association of complexin1 and complexin2 genes with schizophrenia in a Japanese population
Kishi T, et al.
Schizophr Res 2006 Jan

 

Diseases of the Nervous System and Sense Organs

Cholesterol, APOE genotype, and Alzheimer disease: an epidemiologic study of Nigerian Yoruba
Hall K, et al.
Neurology 2006 Jan;66(2):223-7

Genotype and smoking history affect risk of levodopa-induced dyskinesias in Parkinson's disease
Strong JA, et al.
Mov Disord 2006 Jan

Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis
Vandiedonck C, et al.
Ann Neurol 2006 Jan;59(2):404-7

Complement Factor H Variant Y402H Is a Major Risk Determinant for Geographic Atrophy and Choroidal Neovascularization in Smokers and Nonsmokers
Sepp T, et al.
Invest Ophthalmol Vis Sci 2006 Feb;47(2):536-40

An IFNG polymorphism is associated with interferon-beta response in Spanish MS patients
Martinez A, et al.
J Neuroimmunol 2006 Jan

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
Hartig MB, et al.
Ann Neurol 2006 Jan;59(2):248-56

BDNF Val(66)Met Allele Is Associated with Reduced Hippocampal Volume in Healthy Subjects
Bueller JA, et al.
Biol Psychiatry 2006 Jan

Determination of SMN1/SMN2 Gene Dosage by a Quantitative Genotyping Platform Combining Capillary Electrophoresis and MALDI-TOF Mass Spectrometry
Kao HY, et al.
Clin Chem 2006 Jan

Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes
Kung AW, et al.
Clin Endocrinol (Oxf) 2006 Feb;64(2):158-61

Rage gene promoter polymorphisms and diabetic retinopathy in a clinic-based population from South India
Ramprasad S, et al.
Eye 2006 Jan

The Sepiapterin Reductase Gene Region Reveals Association in the PARK3 locus: Analysis of Familial and Sporadic Parkinson Disease in European Populations
Sharma M, et al.
J Med Genet 2006 Jan

Genetic analysis of the cystatin C gene in familial and sporadic ALS patients
Watanabe M, et al.
Brain Res 2006 Jan

 

Diseases of the Circulatory System

PIA1/A2 Polymorphism of the Platelet Glycoprotein Receptor IIb/IIIIa and Its Correlation With Myocardial Infarction: An Appraisal
Wiwanitkit V
Clin Appl Thromb Hemost 2006 Jan;12(1):93-5

Family history for venous thromboembolism and the risk for recurrence
Hron G, et al.
Am J Med 2006 Jan;119(1):50-3

Single-Nucleotide Polymorphisms for Diagnosis of Salt-Sensitive Hypertension
Sanada H, et al.
Clin Chem 2006 Jan

Polymorphisms and Haplotypes of the Regulator of G Protein Signaling-2 Gene in Normotensives and Hypertensives
Riddle EL, et al.
Hypertension 2006 Jan

ACE gene polymorphisms influence t-PA-induced brain vessel reopening following ischemic stroke
Fernandez-Cadenas I, et al.
Neurosci Lett 2006 Jan

Association between well-characterized lipoprotein-related genetic variants and carotid intimal medial thickness and stenosis: The Framingham Heart Study
Elosua R, et al.
Atherosclerosis 2006 Jan

Association studies of genetic polymorphism, environmental factors and their interaction in ischemic stroke
Gao X, et al.
Neurosci Lett 2006 Jan

 

Diseases of the Respiratory System

The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study
Imboden M, et al.
Clin Exp Allergy 2006 Feb;36(2):211-8

Asthma and atopy are associated with DEFB1 polymorphisms in Chinese children
Leung TF, et al.
Genes Immun 2006 Jan;7(1):59-64

An association study of asthma and related phenotypes with polymorphisms in negative regulator molecules of the TLR signaling pathway
Nakashima K, et al.
J Hum Genet 2006 Jan

 

Diseases of the Digestive System

Haplotypes of the Human RET Proto-oncogene Associated with Hirschsprung Disease in the Italian Population Derive from a Single Ancestral Combination of Alleles
Lantieri F, et al.
Ann Hum Genet 2006 Jan;70(Pt 1):12-26

Lack of association between the -403G/A promoter polymorphism in the human CCL5/RANTES chemokine gene in liver transplant outcome
Botella C, et al.
Transpl Int 2006 Feb;19(2):98-104

Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis
Palmieri O, et al.
Aliment Pharmacol Ther 2006 Feb;23(4):497-506

The ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis: discrimination of critical variants using a gene-wide haplotype tagging approach
Gt H, et al.
Hum Mol Genet 2006 Jan

The functional (-1171 5A-->6A) polymorphisms of matrix metalloproteinase 3 gene as a risk factor for oral submucous fibrosis among male areca users
Tu HF, et al.
J Oral Pathol Med 2006 Feb;35(2):99-103

Dominant-Negative TLR5 Polymorphism Reduces Adaptive Immune Response to Flagellin and negatively associates with Crohn's Disease
Gewirtz AT, et al.
Am J Physiol Gastrointest Liver Physiol 2006 Jan

[Is C3435T Polymorphism of MDR1 Related to Inflammatory Bowel Disease or Colorectal Cancer in Korean?]
Lee BI, et al.
Korean J Gastroenterol 2006 Jan;47(1):22-9

Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis
Mostowska A, et al.
J Hum Genet 2006 Jan

Study of Fas (CD95) and FasL (CD178) polymorphisms in liver transplant recipients
Marin LA, et al.
Tissue Antigens 2006 Feb;67(2):117-26

 

Diseases of the Genitourinary System

Chemotactic cytokine receptor 5 (CCR5) gene promoter polymorphism (59029A/G) is associated with diabetic nephropathy in Japanese patients with type 2 diabetes: A 10-year longitudinal study
Mokubo A, et al.
Diabetes Res Clin Pract 2006 Jan

Association of MEGSIN 2093C-2180T haplotype at the 3' untranslated region with disease severity and progression of IgA nephropathy
Xia Y, et al.
Nephrol Dial Transplant 2006 Jan

Mutations in the wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9
Mucha B, et al.
Pediatr Res 2006 Feb;59(2):325-31

Effect of Homeodomain Protein NKX3.1 R52C Polymorphism On Prostate Gland Size
Rodriguez Ortner E, et al.
Urology 2006 Jan

Gender-specific association of the factor V Leiden mutation with fertility and fecundity in a historic cohort. The Leiden 85-Plus Study
van Dunne FM, et al.
Hum Reprod 2006 Jan

 

Complications of Pregnancy, Childbirth, and the Puerperium

Correlation between plasminogen activator inhibitor-1 4G/5G polymorphism and pre-eclampsia: an appraisal
Wiwanitkit V
Arch Gynecol Obstet 2006 Jan:1-3

Cytokine genotyping in preeclampsia
Daher S, et al.
Am J Reprod Immunol 2006 Feb;55(2):130-5

Genetic thrombophilic mutations among couples with recurrent miscarriage
Jivraj S, et al.
Hum Reprod 2006 Jan

 

Diseases of the Skin and Subcutaneous Tissue

Distinct Clinical Differences Between HLA-Cw(*)0602 Positive and Negative Psoriasis Patients - An Analysis of 1019 HLA-C- and HLA-B-Typed Patients
Gudjonsson JE, et al.
J Invest Dermatol 2006 Jan

Apolipoprotein E gene polymorphisms are associated with psoriasis but do not determine disease response to acitretin
Campalani E, et al.
Br J Dermatol 2006 Feb;154(2):345-52

 

Diseases of the Musculoskeletal System and Connective Tissue

The COL5A1 gene and Achilles tendon pathology
Mokone GG, et al.
Scand J Med Sci Sports 2006 Feb;16(1):19-26

Polymorphisms in the bone morphogenetic protein 2 (BMP2) gene do not affect bone mineral density in white men or women
Ichikawa S, et al.
Osteoporos Int 2006 Jan:1-6

 

Congenital Anomalies

Accurate Diagnosis of a Homozygous G1138A Mutation in the Fibroblast Growth Factor Receptor 3 Gene Responsible for Achondroplasia
Satiroglu-Tufan NL, et al.
Tohoku J Exp Med 2006 Feb;208(2):103-7

Mutation screening in juvenile polyposis syndrome
Pyatt RE, et al.
J Mol Diagn 2006 Feb;8(1):84-8

 

Certain Conditions Originating in the Perinatal Period

The tumour necrosis factor (TNF)-alpha-308GA promoter polymorphism is related to prenatal growth and postnatal insulin resistance
Casano-Sancho P, et al.
Clin Endocrinol (Oxf) 2006 Feb;64(2):129-35

 

Symptoms, Signs and Ill-defined Conditions

Impact of ABCB1 (MDR1) haplotypes on tacrolimus dosing in adult lung transplant patients who are CYP3A5 *3/*3 nonexpressors
Wang J, et al.
Transpl Immunol 2006 Jan;15(3):235-40

Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients
Mushiroda T, et al.
J Hum Genet 2006 Jan

Mutations in Innate Immune System NOD2/CARD 15 and TLR-4 (Thr399Ile) Genes Influence the Risk for Severe Acute Graft-versus-Host Disease in Patients Who Underwent an Allogeneic Transplantation
Elmaagacli AH, et al.
Transplantation 2006 Jan;81(2):247-54

Association between heat shock protein 70s and Toll-like receptor polymorphisms with long-term renal allograft survival
Fekete A, et al.
Transpl Int 2006 Mar;19(3):190-6

Effects of the CYP3A5 genetic polymorphism on the pharmacokinetics of diltiazem
Yamamoto T, et al.
Clin Chim Acta 2005 Dec;362(1-2):147-54

Genetic polymorphisms in the genes encoding human interleukin-7 receptor-alpha: prognostic significance in allogeneic stem cell transplantation
Shamim Z, et al.
Bone Marrow Transplant 2006 Jan

Mitochondrial aldehyde dehydrogenase-2 (ALDH2) Glu504Lys polymorphism contributes to the variation in efficacy of sublingual nitroglycerin
Li Y, et al.
J Clin Invest 2006 Jan

 

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