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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
July 24, 2008
Volume 21, 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

Three single nucleotide polymorphisms leading to non-synonymous amino acid substitution in the human ribonuclease 2 and angiogenin genes exhibit markedly less genetic heterogeneity in six populations
Ueki M, et al.
Cell Biochem Funct 2008 Jul

Systematic polymorphism analysis of the CYP2D6 gene in four different geographical Han populations in mainland China
Qin S, et al.
Genomics 2008 Jul

 

Infectious and Parasitic Diseases

Detrimental Effects of Mannose-Binding Lectin (MBL2) Promoter Genotype XA/XA on HIV-1 Vertical Transmission and AIDS Progression
Mangano A, et al.
J Infect Dis 2008 Jul

Mannose-binding lectin genotypes in susceptibility to community acquired pneumonia
Endeman H, et al.
Chest 2008 Jul

 

Neoplasms

Association of poor metabolizers of cytochrome P450 2C19 with head and neck cancer and poor treatment response
Yadav SS, et al.
Mutat Res 2008 Jul

Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer
Diergaarde B, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jul;17(7):1751-9

Effects of common haplotypes of the ileal sodium dependent bile acid transporter  gene on the development of sporadic and familial colorectal cancer: a case control study
Grunhage F, et al.
BMC Med Genet 2008 Jul;9(1):70

Influence of interleukin-8 and interleukin-10 on sporadic colon cancer development and progression
Cacev T, et al.
Carcinogenesis 2008 Jul

Case-control study of oral and oropharyngeal cancer in whites and genetic variation in eight metabolic enzymes
Buch SC, et al.
Head Neck 2008 Jul

Breast cancer risk reduction and membrane-bound catechol O-methyltransferase genetic polymorphisms
Ji Y, et al.
Cancer Res 2008 Jul;68(14):5997-6005

DNA repair polymorphisms and the risk of stomach adenocarcinoma and severe chronic gastritis in the EPIC-EURGAST study
Capella G, et al.
Int J Epidemiol 2008 Jul

Manganese superoxide dismutase (MnSOD) genetic polymorphism is associated with risk of early-onset prostate cancer
Arsova-Sarafinovska Z, et al.
Cell Biochem Funct 2008 Jul

Association of the CYP17 gene polymorphism with risk for uterine leiomyoma in Brazilian women
Vieira LC, et al.
Gynecol Endocrinol 2008 Jul;24(7):373-7

Polymorphisms of the DNA Repair Gene XPA and XPC and its Correlation With Gastric Cardiac Adenocarcinoma in a High Incidence Population in North China
Dong Z, et al.
J Clin Gastroenterol 2008 Jul

MDR1 C3435T polymorphism has no influence on developing Helicobacter pylori infection-related gastric cancer and peptic ulcer in Japanese
Sugimoto M, et al.
Life Sci 2008 Jul

VEGF G-1154A is Predictive of Severe Acute Toxicities during Chemoradiotherapy for Esophageal Squamous Cell Carcinoma in Japanese Patients
Sakaeda T, et al.
Ther Drug Monit 2008 Jul

Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes
Figueroa JD, et al.
Carcinogenesis 2008 Jul

Cytokine gene polymorphisms and the risk of adenocarcinoma of the stomach in the  European prospective investigation into cancer and nutrition (EPIC-EURGAST)
Crusius JB, et al.
Ann Oncol 2008 Jul

Evaluation of BRCA1 and BRCA2 mutations and risk prediction models in a typical Asian country (Malaysia) with relatively low incidence of breast cancer
Thirthagiri E, et al.
Breast Cancer Res 2008 Jul;10(4):R59

Association of Vitamin D Receptor Gene Variants, Adiposity and Colon Cancer
Ochs-Balcom HM, et al.
Carcinogenesis 2008 Jul

The hOGG1 Ser326Cys Polymorphism and Lung Cancer Risk: A Meta-analysis
Li H, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jul;17(7):1739-45

Polymorphisms and haplotypes in the multidrug resistance 1 gene (MDR1/ABCB1) and  risk of multiple myeloma
Jamroziak K, et al.
Leuk Res 2008 Jul

A novel functional polymorphism in the Cdc6 promoter is associated with the risk  for hepatocellular carcinoma
Xiong XD, et al.
Mutat Res 2008 Jul

Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women
Hu Z, et al.
Hum Mutat 2008 Jul

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk
Mitui M, et al.
Hum Mutat 2008 Jul

The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population
Brudnik U, et al.
Exp Dermatol 2008 Jul

Analysis of variants in DNA damage signalling genes in bladder cancer
Choudhury A, et al.
BMC Med Genet 2008 Jul;9(1):69

The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases
De Vecchi G, et al.
Cancer Detect Prev 2008 Jul

Polymorphisms in cell cycle regulatory genes, urinary arsenic profile and urothelial carcinoma
Chung CJ, et al.
Toxicol Appl Pharmacol 2008 Jul

The DLC-1 -29A/T Polymorphism Is Not Associated with Nasopharyngeal Carcinoma Risk in Chinese Population
Feng XL, et al.
Genet Test 2008 Jul

Penetrance Analysis of the PALB2 c.1592delT Founder Mutation
Erkko H, et al.
Clin Cancer Res 2008 Jul;14(14):4667-71

GSTM1 and GSTT1 Gene Deletions and the Risk for Nasopharyngeal Carcinoma in Han Chinese
Guo X, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jul;17(7):1760-3

Cervical and Vulvar Cancer Risk in Relation to the Joint Effects of Cigarette Smoking and Genetic Variation in Interleukin 2
Hussain SK, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jul;17(7):1790-9

Genetic Polymorphisms of CYP2E1 and Risk of Colorectal Adenomas in the Self Defense Forces Health Study
Morita M, et al.
Cancer Epidemiol Biomarkers Prev 2008 Jul;17(7):1800-7

ABCB1 Genetic Variation Influences the Toxicity and Clinical Outcome of Patients  with Androgen-Independent Prostate Cancer Treated with Docetaxel
Sissung TM, et al.
Clin Cancer Res 2008 Jul;14(14):4543-9

Association of genetic polymorphisms of ER-alpha and the estradiol-synthesizing enzyme genes CYP17 and CYP19 with breast cancer risk in Chinese women
Zhang L, et al.
Breast Cancer Res Treat 2008 Jul

Influence of MUC1 genetic variation on prostate cancer risk and survival
Strawbridge RJ, et al.
Eur J Hum Genet 2008 Jul

 

Endocrine, Nutritional and Metabolic Diseases

Interactions between hepatic lipase and apolipoprotein E gene polymorphisms affect serum lipid profiles of healthy Canadian adults
Wood KC, et al.
Appl Physiol Nutr Metab 2008 Aug;33(4):761-8

Association of arachidonate 12-lipoxygenase genotype variation and glycemic control with albuminuria in type 2 diabetes
Liu Y, et al.
Am J Kidney Dis 2008 Aug;52(2):242-50

Association between non-responsiveness to plant sterol intervention and polymorphisms in cholesterol metabolism genes: a case-control study
Rudkowska I, et al.
Appl Physiol Nutr Metab 2008 Aug;33(4):728-34

Genotypes and haplotypes of beta(2)-adrenergic receptor and parameters of the metabolic syndrome in Korean adolescents
Park HS, et al.
Metabolism 2008 Aug;57(8):1064-70

Association study for single nucleotide polymorphisms in the CYP17A1 gene and polycystic ovary syndrome
Park JM, et al.
Int J Mol Med 2008 Aug;22(2):249-54

Zinc Transporter-8 Gene (SLC30A8) Is Associated with Type 2 Diabetes in Chinese
Xiang J, et al.
J Clin Endocrinol Metab 2008 Jul

Multiple Genetic Factors in Olanzapine-Induced Weight Gain in Schizophrenia Patients: A Cohort Study
Ujike H, et al.
J Clin Psychiatry 2008 Jul:e1-e7

A G/T substitution in intron-1 of UNC13B gene is associated with increased risk of nephropathy in patients with type 1 diabetes
Tregouet DA, et al.
Diabetes 2008 Jul

Genetic interactions of KIR and G1M immunoglobulin allotypes differ in obese from non-obese individuals with type 2 diabetes
Romero V, et al.
Mol Immunol 2008 Jul

Androgen receptor gene CAG repeat length in women with metabolic syndrome
Jaaskelainen J, et al.
Gynecol Endocrinol 2008 Jul;24(7):411-6

Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8 and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population
Wu Y, et al.
Diabetes 2008 Jul

Serum levels of testosterone and gonadotrophins with respect to smoking status and genetic polymorphism of GSTT1
Saadat M
Mol Biol Rep 2008 Jul

Interaction between PPARG Pro12Ala and ADIPOQ G276T concerning cholesterol levels in childhood obesity
Johansson LE, et al.
Int J Pediatr Obes 2008 Jul:1-7

 

Mental Disorders

Association study between genetic variants at the VAMP2 and VAMP3 loci and bipolar affective disorder
Abou Jamra R, et al.
Psychiatr Genet 2008 Aug;18(4):199-203

The influence of 5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene on treatment effect of selective serotonin reuptake inhibitors in depressive patients
Smits KM, et al.
Psychiatr Genet 2008 Aug;18(4):184-90

No support for an association with TAAR6 and schizophrenia in a linked population of European ancestry
Ludewick HP, et al.
Psychiatr Genet 2008 Aug;18(4):208-10

Polymorphisms of the serotonin transporter gene (5-HTTLPR, A/G SNP in 5-HTTLPR, and STin2 VNTR) and their relation to personality traits in healthy individuals from Russia
Kazantseva AV, et al.
Psychiatr Genet 2008 Aug;18(4):167-76

Brain-derived neurotrophic factor polymorphisms and frontal cortex morphology in  schizophrenia
Varnas K, et al.
Psychiatr Genet 2008 Aug;18(4):177-83

Angiotensinogen M235T polymorphism and symptoms of depression in a population-based study and a family-based study
Lopez-Leon S, et al.
Psychiatr Genet 2008 Aug;18(4):162-6

Sensorimotor Gating of Schizophrenia Patients Depends on Catechol O-Methyltransferase Val158Met Polymorphism
Quednow BB, et al.
Schizophr Bull 2008 Jul

Lack of association between AKT1 variances versus clinical manifestations and social function in patients with schizophrenia
Liu YC, et al.
J Psychopharmacol 2008 Jul

Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia
Deng X, et al.
BMC Psychiatry 2008 Jul;8(1):58

Association of SNPs and haplotypes in APOL1, 2 and 4 with schizophrenia
Takahashi S, et al.
Schizophr Res 2008 Jul

TNF-alpha polymorphisms are associated with obsessive-compulsive disorder
Hounie AG, et al.
Neurosci Lett 2008 Jul

5-HTTLPR genotype, stressful life events and late-life depression: No evidence of interaction in a French population
Power T, et al.
Neurobiol Aging 2008 Jul

Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome
Vorstman JA, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jul

Blushing propensity in social anxiety disorder: influence of serotonin transporter gene variation
Domschke K, et al.
J Neural Transm 2008 Jul

 

Diseases of the Nervous System and Sense Organs

Analysis of the neuroligin 4Y gene in patients with autism
Yan J, et al.
Psychiatr Genet 2008 Aug;18(4):204-7

Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss
Bae JW, et al.
Int J Mol Med 2008 Aug;22(2):175-80

Lack of evidence for association of a UCH-L1 S18Y polymorphism with Parkinson's disease in a Han-Chinese population
Zhang ZJ, et al.
Neurosci Lett 2008 Jul

The relationship between ApoE, TNFA, IL1a, IL1b and IL12b genes and HIV-1-associated dementia
Pemberton L, et al.
HIV Med 2008 Jul

The PPAR-gamma Pro12Ala polymorphism and risk of cognitive impairment in a longitudinal study
West NA, et al.
Neurobiol Aging 2008 Jul

Butyrylcholinesterase K variant associated with higher enzyme activity in the temporal cortex of elderly patients
Tasker A, et al.
Neurosci Lett 2008 Jul

No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis
Pronk JC, et al.
Mult Scler 2008 Jul

Catechol-O-methyltransferase val(158)met genotype influences neural processing of reward anticipation
Schmack K, et al.
Neuroimage 2008 Jun

 

Diseases of the Circulatory System

Aldosterone synthase gene polymorphism as a determinant of atrial fibrillation in patients with heart failure
Amir O, et al.
Am J Cardiol 2008 Aug;102(3):326-9

The association of endothelial nitric oxide synthase G894T polymorphism with C-reactive protein level and metabolic syndrome in a Chinese study group
Hsieh MC, et al.
Metabolism 2008 Aug;57(8):1125-9

Common polymorphisms in the cannabinoid CB2 receptor gene (CNR2) are not associated with myocardial infarction and cardiovascular risk factors
Reinhard W, et al.
Int J Mol Med 2008 Aug;22(2):165-74

Synergism Between Oral Estrogen Therapy and Cytochrome P450 3A5*1 Allele on the Risk of Venous Thromboembolism among Postmenopausal Women
Canonico M, et al.
J Clin Endocrinol Metab 2008 Jul

RAS gene polymorphisms, classical risk factors and the advent of coronary artery  disease in the Portuguese population
Freitas AI, et al.
BMC Cardiovasc Disord 2008 Jul;8(1):15

Cholesteryl Ester Transfer Protein (CETP) Genetic Variation and Early Onset of Non-Fatal Myocardial Infarction
Meiner V, et al.
Ann Hum Genet 2008 Jul

Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project
Grisoni ML, et al.
Eur J Hum Genet 2008 Jul

Association of angiotensin-converting enzyme and endothelial Nitric Oxide synthase gene polymorphisms with vascular disease in ESRD patients in a Chinese population
Tang FY, et al.
Mol Cell Biochem 2008 Jul

Genotype-phenotype associations between chymase and angiotensin-converting enzyme gene polymorphisms in chronic systolic heart failure patients
Amir RE, et al.
Genet Med 2008 Jul

Case-control study of patients with essential tremor in Latvia
Inashkina I, et al.
Eur J Neurol 2008 Jul

Genetic Analysis of 56 Polymorphisms in 17 Genes involved in Methionine Metabolism in patients with Abdonminal Aortic Aneurysm
Giusti B, et al.
J Med Genet 2008 Jul

The CCR5 (-2135C/T) Polymorphism may be Associated with the Development of Kawasaki Disease in Korean Children
Jhang WK, et al.
J Clin Immunol 2008 Jul

 

Diseases of the Respiratory System

Telomere Shortening in Familial and Sporadic Pulmonary Fibrosis
Cronkhite JT, et al.
Am J Respir Crit Care Med 2008 Jul

Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency
Litzman J, et al.
Clin Exp Immunol 2008 Jul

 

Diseases of the Digestive System

MTHFR C677T polymorphism in chronic pancreatitis and pancreatic adenocarcinoma
Nisevic I, et al.
Cell Biochem Funct 2008 Jul

Matrix metalloproteinases and their tissue inhibitors as prognostic indicators for diagnostic and surgical recurrence in Crohn's disease
Meijer MJ, et al.
Inflamm Bowel Dis 2008 Jul

 

Diseases of the Genitourinary System

Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation
Israni AK, et al.
Am J Kidney Dis 2008 Aug;52(2):331-9

Association of MDR1, CYP3A4*18B, and CYP3A5*3 polymorphisms with cyclosporine pharmacokinetics in Chinese renal transplant recipients
Qiu XY, et al.
Eur J Clin Pharmacol 2008 Jul

Influence of cytokine and intercellular adhesion molecule-1 gene polymorphisms on acute rejection in pediatric renal transplantation
Mendoza-Carrera F, et al.
Pediatr Transplant 2008 Jul

 

Complications of Pregnancy, Childbirth, and the Puerperium

Reduced folate carrier 80A-->G polymorphism, plasma folate, and risk of placental abruption
Ananth CV, et al.
Hum Genet 2008 Jul

Genetic Analysis of the Angiotensinogen Gene in Pre-Eclampsia: Study of German Women and Review of the Literature
Knyrim E, et al.
Gynecol Obstet Invest 2008 Jul;66(3):203-8

Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia
Kim SY, et al.
BMC Med Genet 2008 Jul;9(1):68

 

Diseases of the Skin and Subcutaneous Tissue

Polymorphisms within the C3 gene are associated with specific IgE levels to common allergens and super-antigens among atopic dermatitis patients
Purwar R, et al.
Exp Dermatol 2008 Jul

A study of the killer cell immunoglobulin-like receptor gene KIR2DS1 in a Caucasoid Brazilian population with psoriasis vulgaris
Jobim M, et al.
Tissue Antigens 2008 Jul

Loss-of-function polymorphisms in the filaggrin gene are associated with an increased susceptibility to chronic irritant contact dermatitis: a case-control study
de Jongh CM, et al.
Br J Dermatol 2008 Jul

 

Diseases of the Musculoskeletal System and Connective Tissue

FokI variant of vitamin D receptor gene and factors related to atherosclerosis associated with ossification of the posterior longitudinal ligament of the spine: a multi-hospital case-control study
Kobashi G, et al.
Spine 2008 Jul;33(16):E553-8

Activating KIR genes are associated with ankylosing spondylitis in Asian populations
Diaz-Pena R, et al.
Hum Immunol 2008 Jul;69(7):437-42

Single Nucleotide Polymorphism of COL6A1 in Patients with Ankylosing Spondylitis
Kim TH, et al.
J Rheumatol 2008 Jul

TNF Promoter Polymorphisms Associated with Muscle Phenotypes in Humans
Liu D, et al.
J Appl Physiol 2008 Jul

Toll-like Receptor 4 and CD14 Polymorphisms in Ankylosing Spondylitis: Evidence of a Weak Association in Finns
Pointon JJ, et al.
J Rheumatol 2008 Jul

Tumor Necrosis Factor-alpha -1031 T/C Polymorphism Is Associated with Smaller and More Proatherogenic Low Density Lipoprotein Particles in Patients with Rheumatoid Arthritis
Vallve JC, et al.
J Rheumatol 2008 Jul

Multiple antibody reactivities to citrullinated antigens in sera from rheumatoid  arthritis patients - association with HLA-DRB1 alleles
Snir O, et al.
Ann Rheum Dis 2008 Jul

No Association Between Systemic Sclerosis and C77G Polymorphism in the Human PTPRC (CD45) Gene
Kirsten H, et al.
J Rheumatol 2008 Jul

Investigation of CD69 as a new candidate gene for rheumatoid arthritis
Rueda B, et al.
Tissue Antigens 2008 Jul

Influence of peptidylarginine deiminase type 4 genotype and shared epitope on clinical characteristics and autoantibody profile of rheumatoid arthritis
Hoppe B, et al.
Ann Rheum Dis 2008 Jul

 

Congenital Anomalies

Mutations of CXorf6 are associated with a range of severities of hypospadias
Kalfa N, et al.
Eur J Endocrinol 2008 Jul

 

Certain Conditions Originating in the Perinatal Period

TNF-alpha AND IL-10 GENE POLYMORPHISMS VERSUS CARDIOIMMUNOLOGICAL RESPONSES IN SUDDEN INFANT DEATH
Perskvist N, et al.
Fetal Pediatr Pathol 2008 Oct;27(3):149-65

 

Injury and Poisoning

Genotypes and haplotypes of ERCC1 and ERCC2/XPD genes predict levels of benzo[a]pyrene diol epoxide-induced DNA adducts in cultured primary lymphocytes from healthy individuals: a genotype-phenotype correlation analysis
Zhao H, et al.
Carcinogenesis 2008 Jul

 

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Page last reviewed: July 24, 2008 (archived document)
Content Source: National Office of Public Health Genomics