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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
May 24, 2007
Volume 18, No. 21

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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

DC-SIGN and DC-SIGNR genetic diversity among different ethnic populations: Potential implications for pathogen recognition and disease susceptibility
Boily-Larouche G, et al.
Hum Immunol 2007 Jun;68(6):523-30

Molecular diversity of HLA-A, -B and -C alleles in a North Indian population as determined by PCR-SSOP
Rani R, et al.
Int J Immunogenet 2007 Jun;34(3):201-8

Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal
Pereira L, et al.
Fertil Steril 2007 May

Comprehensive EMX2 genotyping of a large schizencephaly case series
Tietjen I, et al.
Am J Med Genet A 2007 May;143A(12):1313-6

Genetic profile of the arylamine N-acetyltransferase 2 coding gene among individuals from two different regions of Brazil
Teixeira RL, et al.
Mutat Res 2007 Apr

Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy
Ping LL, et al.
Zhonghua Er Ke Za Zhi 2007 Mar;45(3):203-7

 

Infectious and Parasitic Diseases

HLA-A, -B, -C, and -DRB1 allele frequencies in Cuban individuals with antecedents of dengue 2 disease: Advantages of the Cuban population for HLA studies of dengue virus infection
Sierra B, et al.
Hum Immunol 2007 Jun;68(6):531-40

Distribution of CCR2 polymorphism in HIV-1-infected and healthy subjects in North India
Kaur G, et al.
Int J Immunogenet 2007 Jun;34(3):153-6

Association of polymorphisms in the first exon of mannose binding lectin gene (MBL2) in Brazilian patients with HCV infection
Segat L, et al.
Clin Immunol 2007 May

 

Neoplasms

No relationship observed between human p53 codon-72 genotype and HPV-associated cervical cancer in a population group with a low arginine-72 allele frequency
Govan VA, et al.
Int J Immunogenet 2007 Jun;34(3):213-7

CDKN2A and CDK4 variants in Latvian melanoma patients: analysis of a clinic-based population
Pjanova D, et al.
Melanoma Res 2007 Jun;17(3):185-91

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer
De Leon MP, et al.
Scand J Gastroenterol 2007 Jun;42(6):746-53

The prognostic value of PTEN, p53, and beta-catenin in endometrial carcinoma: a prospective immunocytochemical study
Athanassiadou P, et al.
Int J Gynecol Cancer 2007 May;17(3):697-704

Association Between HLA-DRB1 polymorphism, high-risk HPV infection and cervical neoplasia in southern Chinese
Chan PK, et al.
J Med Virol 2007 May;79(7):970-6

Immune Mechanisms in Non-Hodgkin Lymphoma: Joint Effects of the TNF G308A and IL10 T3575A Polymorphisms with Non-Hodgkin Lymphoma Risk Factors
Wang SS, et al.
Cancer Res 2007 May;67(10):5042-54

The CYP1A2 Genotype Modifies the Association Between Coffee Consumption and Breast Cancer Risk Among BRCA1 Mutation Carriers
Kotsopoulos J, et al.
Cancer Epidemiol Biomarkers Prev 2007 May;16(5):912-6

Interaction between CYP1A2-T2467DELT polymorphism and smoking in adenocarcinoma and squamous cell carcinoma of the lung
Pavanello S, et al.
Lung Cancer 2007 May

The risk of developing cervical cancer in Mexican women is associated to CYP1A1 MspI polymorphism
Juarez-Cedillo T, et al.
Eur J Cancer 2007 May

Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case-control study
Brennan P, et al.
Hum Mol Genet 2007 May

MTHFR polymorphisms' influence on outcome and toxicity in acute lymphoblastic leukemia patients
Chiusolo P, et al.
Leuk Res 2007 May

Intake of fruits and vegetables and polymorphisms in DNA repair genes in bladder cancer
Sacerdote C, et al.
Mutagenesis 2007 May

Prospective Assessment of XPD Lys751Gln and XRCC1 Arg399Gln Single Nucleotide Polymorphisms in Lung Cancer
Giachino DF, et al.
Clin Cancer Res 2007 May;13(10):2876-81

Possession of ATM Sequence Variants as Predictor for Late Normal Tissue Responses in Breast Cancer Patients Treated with Radiotherapy
Ho AY, et al.
Int J Radiat Oncol Biol Phys 2007 May

Alcohol dehydrogenase and aldehyde dehydrogenase polymorphisms and colorectal cancer: The Fukuoka Colorectal Cancer Study
Yin G, et al.
Cancer Sci 2007 May

KRAS Mutation Is an Important Predictor of Resistance to Therapy with Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors in Non-Small-Cell Lung Cancer
Massarelli E, et al.
Clin Cancer Res 2007 May;13(10):2890-6

Response to chemotherapy and tandem autologous transplantation of multiple myeloma patients and GSTP1 and TYMS polymorphisms
Maggini V, et al.
Leuk Res 2007 May

Is TGFBR1*6A a Susceptibility Allele for Nonsyndromic Familial Colorectal Neoplasia?
Daley D, et al.
Cancer Epidemiol Biomarkers Prev 2007 May;16(5):892-4

Polymorphisms in the CYP19A1 (Aromatase) Gene and Endometrial Cancer Risk in Chinese Women
Tao MH, et al.
Cancer Epidemiol Biomarkers Prev 2007 May;16(5):943-9

The nonsynonymous single nucleotide polymorphisms of DNA repair gene XRCC1 and susceptibility to the development of cervical carcinoma and high-risk human papillomavirus infection
Huang J, et al.
Int J Gynecol Cancer 2007 May;17(3):668-75

BRIP1 (BACH1) variants and familial breast cancer risk
Frank B, et al.
BMC Cancer 2007 May;7(1):83

Aurora-A and p16 Polymorphisms Contribute to an Earlier Age at Diagnosis of Pancreatic Cancer in Caucasians
Chen J, et al.
Clin Cancer Res 2007 May;13(10):3100-4

 

Endocrine, Nutritional and Metabolic Diseases

Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations
Lima JJ, et al.
Metabolism 2007 Jun;56(6):757-65

The UCP1 Gene Polymorphism A-3826G in Relation to DM2 and Body Composition in Czech Population
Sramkova D, et al.
Exp Clin Endocrinol Diabetes 2007 May;115(5):303-7

Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype
Choi J, et al.
Int J Urol 2007 May;14(5):431-5

HLA-DPB1*0402 Protects Against Type 1A Diabetic Autoimmunity in the Highest Risk DR3-DQB1*0201/DR4-DQB1*0302 DAISY Population
Baschal EE, et al.
Diabetes 2007 May

Association between vitamin-D receptor gene FokI polymorphism and Graves' disease among Taiwanese Chinese
Chen RH, et al.
J Clin Lab Anal 2007 May;21(3):173-7

PSMD9 gene variants within NIDDM2 may rarely contribute to type 2 diabetes
Gragnoli C & Cronsell J
J Cell Physiol 2007 May

CTLA-4 Gene Polymorphisms and Autoimmune Thyroid Disease: A Meta Analysis
Kavvoura FK, et al.
J Clin Endocrinol Metab 2007 May

 

Mental Disorders

Polymorphisms of the dopamine D4 receptor gene (DRD4 VNTR) and cannabinoid CB1 receptor gene (CNR1) are not strongly related to cue-reactivity after alcohol exposure
van den Wildenberg E, et al.
Addict Biol 2007 Jun;12(2):210-20

Association between dopamine transporter genotypes and smoking cessation: a meta-analysis
Stapleton JA, et al.
Addict Biol 2007 Jun;12(2):221-6

Investigating the role of p11 (S100A10) sequence variation in susceptibility to major depression
Verma R, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

A region of 35 kb containing the trace amine associate receptor 6 (TAAR6) gene is associated with schizophrenia in the Irish study of high-density schizophrenia families
Vladimirov V, et al.
Mol Psychiatry 2007 May

A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders
Gratacos M, et al.
Pharmacogenomics J 2007 May

The 3111T/C polymorphism of the CLOCK gene confers a predisposition to a lifetime lower body weight in patients with anorexia nervosa and bulimia nervosa: A preliminary study
Tortorella A, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

CNR1 Variation Modulates Risk for Drug and Alcohol Dependence
Zuo L, et al.
Biol Psychiatry 2007 May

The influence of urban/rural residency on depressive symptoms is moderated by the serotonin receptor 2A gene
Jokela M, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

Association study of the nicotinic acetylcholine receptor alpha4 subunit gene, CHRNA4, in attention-deficit hyperactivity disorder
Lee J, et al.
Genes Brain Behav 2007 May

 

Diseases of the Nervous System and Sense Organs

Polymorphisms of interferon-gamma, interleukin-10, and interleukin-12 genes in myasthenia gravis
Yilmaz V, et al.
Hum Immunol 2007 Jun;68(6):544-9

Fibroblast growth factor 20 gene and Parkinson's disease in the Japanese population
Satake W, et al.
Neuroreport 2007 Jun;18(9):937-40

Chemokine receptor CCR5 in interferon-treated multiple sclerosis
Sellebjerg F, et al.
Acta Neurol Scand 2007 Jun;115(6):413-8

The prevalence of the 235delC GJB2 mutation in a Chinese deaf population
Dai P, et al.
Genet Med 2007 May;9(5):283-9

Common genetic variation within the Low-Density Lipoprotein Receptor-Related Protein 6 and late-onset Alzheimer's disease
De Ferrari GV, et al.
Proc Natl Acad Sci U S A 2007 May

An Insertion/Deletion Polymorphism in the Alpha2B Adrenoceptor Gene is Associated with Peripheral Neuropathy in Patients with Type 2 Diabetes Mellitus
Papanas N, et al.
Exp Clin Endocrinol Diabetes 2007 May;115(5):327-30

 

Diseases of the Circulatory System

Cholesteryl ester transfer protein B1B1 genotype as a predictor of coronary artery disease in Taiwanese with type 2 diabetes mellitus
Hsieh MC, et al.
Metabolism 2007 Jun;56(6):745-50

The RANTES -403G>A promoter polymorphism in Korean men: association with serum RANTES and coronary artery disease
Jang Y, et al.
Clin Sci (Lond) 2007 May

Multiple less common genetic variants explain the association of the cholesteryl ester transfer protein gene with coronary artery disease
Horne BD, et al.
J Am Coll Cardiol 2007 May;49(20):2053-60

ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study
Girelli D, et al.
Eur J Hum Genet 2007 May

High Concentrations of Soluble P-Selectin Are Associated with Risk of Venous Thromboembolism and the P-Selectin Thr715 Variant
Ay C, et al.
Clin Chem 2007 May

TNF-alpha -308G>A Polymorphism Modulates Cytokine Serum Concentrations and Macrovascular Complications in Diabetic Patients on Aspirin
Krayenbuehl PA, et al.
Exp Clin Endocrinol Diabetes 2007 May;115(5):322-6

Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans
Koch W, et al.
Hum Mol Genet 2007 May

Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension
Barlassina C, et al.
Hum Mol Genet 2007 May

NADH dehydrogenase subunit-2 237 Leu/Met polymorphism modifies the effects of alcohol consumption on risk for hypertension in middle-aged Japanese men
Kokaze A, et al.
Hypertens Res 2007 Mar;30(3):213-8

Methylenetetrahydrofolate reductase gene polymorphism and its association with coronary artery disease
Guerzoni AR, et al.
Sao Paulo Med J 2007 Jan;125(1):4-8

Factor XIIIA-V34L and Factor XIIIB-H95R Gene Variants: Effects on Survival in Myocardial Infarction Patients
Gemmati D, et al.
Mol Med 2007 Jan-2007 Feb;13(1-2):112-20

 

Diseases of the Respiratory System

Associations of glutathione S-transferase P1, M1, and environmental tobacco smoke with wheezing illness in school children
Lee YL, et al.
Allergy 2007 Jun;62(6):641-7

A functional CD86 polymorphism associated with asthma and related allergic disorders
Corydon TJ, et al.
J Med Genet 2007 May

CX3CR1 Polymorphisms Are Associated with Atopy but Not Asthma in German Children
Depner M, et al.
Int Arch Allergy Immunol 2007 May;144(1):91-4

 

Diseases of the Digestive System

ATP-binding cassette transporter ABCG2 (BCRP) and ABCB1 (MDR1) variants are not associated with disease susceptibility, disease phenotype response to medical therapy or need for surgeryin Hungarian patients with inflammatory bowel diseases
Fischer S, et al.
Scand J Gastroenterol 2007 Jun;42(6):726-33

Association of CD14, IL1B, IL6, IL10 and TNFA functional gene polymorphisms with symptomatic dental abscesses
de Sa AR, et al.
Int Endod J 2007 May

Risk Factors for Perianal Crohn's Disease: The Role of Genotype, Phenotype, and Ethnicity
Karban A, et al.
Am J Gastroenterol 2007 May

Analysis of Keratin Polypeptides 8 and 19 Variants in Inflammatory Bowel Disease
Tao GZ, et al.
Clin Gastroenterol Hepatol 2007 May

Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype
Fraser Cummings JR, et al.
Inflamm Bowel Dis 2007 May

 

Diseases of the Genitourinary System

A Polymorphism of Matrix Gla Protein Gene is Associated With Kidney Stones
Gao B, et al.
J Urol 2007 Jun;177(6):2361-5

Association between susceptibility to advanced stage endometriosis and the genetic polymorphisms of aryl hydrocarbon receptor repressor and glutathione-S-transferase T1 genes
Kim SH, et al.
Hum Reprod 2007 May

 

Diseases of the Skin and Subcutaneous Tissue

Association of the single-nucleotide polymorphism and haplotype of the interleukin 18 gene with atopic dermatitis in Koreans
Kim E, et al.
Clin Exp Allergy 2007 Jun;37(6):865-71

 

Diseases of the Musculoskeletal System and Connective Tissue

Are there common human leucocyte antigen associations in juvenile idiopathic arthritis and periodontitis?
Reichert S, et al.
J Clin Periodontol 2007 Jun;34(6):492-8

The Effect of LRP5 Polymorphisms on Bone Mineral Density Is Apparent in Childhood
Koay MA, et al.
Calcif Tissue Int 2007 May

Meta-analysis of association between the ASPN D-repeat and osteoarthritis
Nakamura T, et al.
Hum Mol Genet 2007 May

Association of Gene Polymorphisms With Intervertebral Disc Degeneration and Vertebral Osteophyte Formation
Sakai Y, et al.
Spine 2007 May;32(12):1279-86

Association Study of Toll-like Receptor 5 (TLR5) and Toll-like Receptor 9 (TLR9) Polymorphisms in Systemic Lupus Erythematosus
Demirci FY, et al.
J Rheumatol 2007 May

Caspase 7 influences susceptibility to rheumatoid arthritis
Garcia-Lozano JR, et al.
Rheumatology (Oxford) 2007 May

The Catechol-O-Methyltransferase Met158 "low activity" allele and association with non-vertebral fracture risk in elderly men
Stolk L, et al.
J Clin Endocrinol Metab 2007 May

 

Congenital Anomalies

Angiotensin II Type 2 Receptor Gene Polymorphism in Caucasian Children With a Wide Spectrum of Congenital Anomalies of the Kidney and Urinary Tract
Siomou E, et al.
Pediatr Res 2007 May

 

Certain Conditions Originating in the Perinatal Period

The IL6 -174G/C polymorphism and sudden infant death syndrome
Opdal SH & Rognum TO
Hum Immunol 2007 Jun;68(6):541-3

 

 

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Page last reviewed: May 24, 2007 (archived document)
Page last updated: November 2, 2007
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