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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
January 25, 2007
Volume 18, No. 4

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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

Allelic distributions of CYP2D6 gene copy number variation in the Eastern Han Chinese population
Sheng HH, et al.
Acta Pharmacol Sin 2007 Feb;28(2):279-86

Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients
Alibakhshi R & Zamani M
Iran J Allergy Asthma Immunol 2006 Mar;5(1):3-8

 

Infectious and Parasitic Diseases

Human Leukocyte Antigen Alleles and Haplotypes Associated With Chronicity of Hepatitis B Virus Infection in Koreans
Hwang SH, et al.
Arch Pathol Lab Med 2007 Jan;131(1):117

Predictive Value of Known and Novel Alleles of CYP2B6 for Efavirenz Plasma Concentrations in HIV-infected Individuals
Rotger M, et al.
Clin Pharmacol Ther 2007 Jan

Human leukocyte antigen and interleukin 2, 10 and 12p40 cytokine responses to measles: Is there evidence of the HLA effect?
Ovsyannikova IG, et al.
Cytokine 2007 Jan

Distribution of CCR5Delta32, CCR2-64I and SDF1-3'A and plasma levels of SDF-1 in HIV-1 seronegative North Indians
Verma R, et al.
J Clin Virol 2007 Jan

 

Neoplasms

A Three-Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation
Duffy DL, et al.
Am J Hum Genet 2007 Feb;80(2):241-52

p53 codon 72 Pro homozygosity increases the risk of cutaneous melanoma in individuals with dark skin complexion and among noncarriers of melanocortin 1 receptor red hair variants
Stefanaki I, et al.
Br J Dermatol 2007 Feb;156(2):357-62

Slow Acetylator Genotype of N-Acetyl Transferase2 (NAT2) is Associated with Increased Susceptibility to Gallbladder Cancer: The Cancer Risk Not Modulated by Gallstone Disease
Pandey SN, et al.
Cancer Biol Ther 2007 Jan;6(1)

The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1
Kruger S, et al.
Cancer Lett 2007 Jan

CYP17 gene polymorphism and its association with high-risk north Indian breast cancer patients
Chakraborty A, et al.
J Hum Genet 2007 Jan

Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers
Georgitsi M, et al.
Br J Cancer 2007 Jan;96(2):352-6

Oral anticoagulation with warfarin is significantly influenced by steroids and CYP2C9 polymorphisms in children with cancer
Ruud E, et al.
Pediatr Blood Cancer 2007 Jan

Effects of base excision repair gene polymorphisms on pancreatic cancer survival
Li D, et al.
Int J Cancer 2007 Jan

Pharmacogenetic analysis of paclitaxel transport and metabolism genes in breast cancer
Marsh S, et al.
Pharmacogenomics J 2007 Jan

TNF alpha promoter polymorphisms analysis in benign and malignant breast lesions
Sirotkovic-Skerlev M, et al.
Exp Mol Pathol 2007 Jan

Amino acid substitution polymorphisms of the DNA repair gene MGMT and the susceptibility to cervical carcinoma
Huang J, et al.
Carcinogenesis 2007 Jan

Trans Fatty Acid Intake and Increased Risk of Advanced Prostate Cancer: Modification by RNASEL R462Q Variant
Liu X, et al.
Carcinogenesis 2007 Jan

Investigation of the VDR gene polymorphisms association with susceptibility to colorectal cancer
Yaylim-Eraltan I, et al.
Cell Biochem Funct 2007 Jan

Common polymorphisms in 5-lipoxygenase and 12-lipoxygenase genes and the risk of incident, sporadic colorectal adenoma
Gong Z, et al.
Cancer 2007 Jan

 

Endocrine, Nutritional and Metabolic Diseases

Hemochromatosis (HFE) gene splice site mutation IVS5+1 G/A in North American Vietnamese with and without phenotypic evidence of iron overload
Steiner M, et al.
Transl Res 2007 Feb;149(2):92-5

The impact of interleukin-6 promoter(-597/-572/-174)genotype on interleukin-6 production after lipopolysaccharide stimulation
Muller-Steinhardt M, et al.
Clin Exp Immunol 2007 Feb;147(2):339-45

Resistin gene polymorphisms and progression of glycaemia in southern Chinese: a 5-year prospective study
Xu JY, et al.
Clin Endocrinol (Oxf) 2007 Feb;66(2):211-7

Association of the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene with circulating levels of soluble RAGE and inflammatory markers in nondiabetic and nonobese Koreans
Jang Y, et al.
Metabolism 2007 Feb;56(2):199-205

Association of IL-10 level and IL-10 promoter SNPs with specific antibodies in penicillin-allergic patients
Qiao HL, et al.
Eur J Clin Pharmacol 2007 Jan

Single nucleotide polymorphisms in the neuropeptide Y2 receptor (NPY2R) gene and association with severe obesity in French white subjects
Siddiq A, et al.
Diabetologia 2007 Jan

Moderate increase in dietary sucrose does not influence fasting or postprandial serum lipids regardless of the presence of apolipoprotein E2 allele in healthy subjects
Erkkila AT, et al.
Eur J Clin Nutr 2007 Jan

Apolipoprotein E polymorphism in Brazilian dyslipidemic individuals: Ouro Preto study
Mendes-Lana A, et al.
Braz J Med Biol Res 2007 Jan;40(1):49-56

Variants of the Transcription Factor 7-Like 2 Gene (TCF7L2) are Strongly Associated with Type 2 Diabetes but not with the Metabolic Syndrome in the MONICA/KORA Surveys
Marzi C, et al.
Horm Metab Res 2007 Jan;39(1):46-52

The Q121/Q121 Genotype of ENPP1/PC-1 Is Associated with Lower BMI in Non-diabetic Whites
Prudente S, et al.
Obesity (Silver Spring) 2007 Jan;15(1):1-4

Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels
Saez ME, et al.
BMC Med Genet 2007 Jan;8(1):1

The SH2B Gene is Associated with Serum Leptin and Body Fat in Normal Female Twins
Jamshidi Y, et al.
Obesity (Silver Spring) 2007 Jan;15(1):5-9

 

Mental Disorders

CYP2D6 and Clinical Response to Atomoxetine in Children and Adolescents With ADHD
Michelson D, et al.
J Am Acad Child Adolesc Psychiatry 2007 Feb;46(2):242-51

Association Studies of Serotonin System Candidate Genes in Early-onset Obsessive-Compulsive Disorder
Dickel DE, et al.
Biol Psychiatry 2007 Feb;61(3):322-9

CLOCK gene 3111C/T polymorphism is not associated with seasonal variations in mood and behavior in Korean college students
Paik JW, et al.
Psychiatry Clin Neurosci 2007 Feb;61(1):124-6

Possible association of beta-arrestin 2 gene with methamphetamine use disorder, but not schizophrenia
Ikeda M, et al.
Genes Brain Behav 2007 Feb;6(1):107-12

Supportive evidence for the association between the T102C 5-HTR2A gene polymorphism and schizophrenia: A large-scale case-control and family-based study
Golimbet VE, et al.
Eur Psychiatry 2007 Jan

Association of the mu-opioid receptor gene with smoking cessation
Munafo MR, et al.
Pharmacogenomics J 2007 Jan

Norepinephrine Transporter Gene Variation Modulates Acute Response to d-Amphetamine
Dlugos A, et al.
Biol Psychiatry 2007 Jan

No Allele Variation of the MAOA Gene Promoter in Male Chinese Subjects with Attention Deficit Hyperactivity Disorder
Lung FW, et al.
Neuropsychobiology 2007 Jan;54(3):147-51

Family-based and case-control studies reveal no association of lipocalin-type prostaglandin D2 synthase with schizophrenia
Ruano D, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jan

Antipsychotic-induced extrapyramidal symptoms in patients with schizophrenia: associations with dopamine and serotonin receptor and transporter polymorphisms
Guzey C, et al.
Eur J Clin Pharmacol 2007 Jan

Association of CYP2D6 ultrarapid metabolizer genotype with deficient patient satisfaction regarding methadone maintenance treatment
Perez de Los Cobos J, et al.
Drug Alcohol Depend 2007 Jan

Association of the neuronal nicotinic receptor beta2 subunit gene (CHRNB2) with subjective responses to alcohol and nicotine
Ehringer MA, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Jan

 

Diseases of the Nervous System and Sense Organs

Interactive Effects of a DRD4 Polymorphism, Lead, and Sex on Executive Functions in Children
Froehlich TE, et al.
Biol Psychiatry 2007 Jan

Association of prostaglandin-endoperoxide synthase 2 (PTGS2) polymorphisms and Alzheimer's disease in Chinese
Ma SL, et al.
Neurobiol Aging 2007 Jan

Genetic study evaluating LDLR polymorphisms and Alzheimer's disease
Lamsa R, et al.
Neurobiol Aging 2007 Jan

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease
Squillaro T, et al.
J Hum Genet 2007 Jan

Performance in the Wisconsin Card Sorting Test and the C957T Polymorphism of the DRD2 Gene in Healthy Volunteers
Rodriguez-Jimenez R, et al.
Neuropsychobiology 2007 Jan;54(3):166-70

ELAVL4, PARK10, and the Celts
Haugarvoll K, et al.
Mov Disord 2007 Jan

Apolipoprotein E epsilon4 allele is associated with Parkinson disease risk in a Mexican Mestizo population
Lopez M, et al.
Mov Disord 2007 Jan

G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy
Ozelius LJ, et al.
Mov Disord 2007 Jan

Association of GABRB3 Polymorphisms with Autism Spectrum Disorders in Korean Trios
Kim SA, et al.
Neuropsychobiology 2007 Jan;54(3):160-5

Independent Effects of Complement Factor H Y402H Polymorphism and Cigarette Smoking on Risk of Age-Related Macular Degeneration
Scott WK, et al.
Ophthalmology 2007 Jan

Polymorphisms of DNA repair genes XRCC1 and XPD and risk of primary open angle glaucoma (POAG)
Guven M, et al.
Mol Vis 2007;13:12-7

 

 

Diseases of the Circulatory System

The association between fibrinogen haplotypes and myocardial infarction in men is partly mediated through pleiotropic effects on the serum IL-6 concentration
Mannila MN, et al.
J Intern Med 2007 Feb;261(2):138-47

Autoimmunity and atherosclerosis: functional polymorphism of PTPN22 is associated with phenotypes related to the risk of atherosclerosis. The Cardiovascular Risk in Young Finns Study
Pertovaara M, et al.
Clin Exp Immunol 2007 Feb;147(2):265-9

Ala92 Type 2 Deiodinase Allele Increases Risk for the Development of Hypertension
Gumieniak O, et al.
Hypertension 2007 Jan

B-group vitamins, MTHFR C677T polymorphism and carotid intima-media thickness in clinically healthy subjects
Liu CS, et al.
Eur J Clin Nutr 2007 Jan

The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study
Akyol M, et al.
Eur Heart J 2007 Jan

Influence of the Angiotensin II Type I Receptor Gene 1166A > C Polymorphism on BP and Aortic Pulse Wave Velocity Among Malays
Rehman A, et al.
Ann Hum Genet 2007 Jan;71(Pt 1):86-95

 

Diseases of the Digestive System

Thiopurine S-methyltransferase gene polymorphism in Japanese patients with autoimmune liver diseases
Tamori A, et al.
Liver Int 2007 Feb;27(1):95-100

Differential roles of the SPINK1 gene mutations in alcoholic and nonalcoholic chronic pancreatitis
Masamune A, et al.
J Gastroenterol 2007 Jan;42 Suppl 17:135-40

The frequency of C3435T MDR1 gene polymorphism in Iranian patients with ulcerative colitis
Farnood A, et al.
Int J Colorectal Dis 2007 Jan

Genetic Susceptibility to Diclofenac-Induced Hepatotoxicity: Contribution of UGT2B7, CYP2C8, and ABCC2 Genotypes
Daly AK, et al.
Gastroenterology 2007 Jan;132(1):272-81

 

Diseases of the Genitourinary System

The progesterone receptor gene polymorphism, PROGINS, may be a factor related to the development of uterine fibroids
Gomes MT, et al.
Fertil Steril 2007 Jan

Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy
Li GS, et al.
Kidney Int 2007 Jan

SUMO4 M55V Variant Is Associated with Diabetic Nephropathy in Type 2 Diabetes
Lin HY, et al.
Diabetes 2007 Jan

Interleukin-1 receptor antagonist gene polymorphism affects the progression of chronic renal failure
Buraczynska M, et al.
Cytokine 2007 Jan

 

Diseases of the Skin and Subcutaneous Tissue

A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes
Cargill M, et al.
Am J Hum Genet 2007 Feb;80(2):273-390

 

Diseases of the Musculoskeletal System and Connective Tissue

Association between SNP and haplotypes in PPARGC1 and adiponectin genes and bone mineral density in Chinese nuclear families
Zhang ZL, et al.
Acta Pharmacol Sin 2007 Feb;28(2):287-95

Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene
Michou L, et al.
Proc Natl Acad Sci U S A 2007 Jan

The association between hyperuricemia and the Trp64Arg polymorphism of the beta-3 adrenergic receptor
Rho YH, et al.
Rheumatol Int 2007 Jan

Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus
Velazquez-Cruz R, et al.
Eur J Hum Genet 2007 Jan

 

 

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Page last reviewed: January 25, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics