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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
May 31, 2007
Volume 18, No. 22

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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

A Common Polymorphism in the Bile Acid Receptor FXR is Associated with Decreased Hepatic Target Gene Expression
Marzolini C, et al.
Mol Endocrinol 2007 May

Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss.
Circir YE, et al.
Kulak Burun Bogaz Ihtis Derg 2007 Mar-2007 Apr;17(2):75-80

 

Infectious and Parasitic Diseases

The Polymorphisms in DC-SIGNR Affect Susceptibility to HIV Type 1 Infection
Wichukchinda N, et al.
AIDS Res Hum Retroviruses 2007 May;23(5):686-92

RANTES -28G Delays and DC-SIGN - 139C Enhances AIDS Progression in HIV Type 1-Infected Japanese Hemophiliacs
Koizumi Y, et al.
AIDS Res Hum Retroviruses 2007 May;23(5):713-9

Genetic Polymorphisms of LMP/TAP Gene and Hepatitis B Virus Infection Risk in the Chinese Population
Xu C, et al.
J Clin Immunol 2007 May

Hemoglobin variants and disease manifestations in severe falciparum malaria
May J, et al.
JAMA 2007 May;297(20):2220-6

 

Neoplasms

Further observations on the relationship between the FGFR4 Gly388Arg polymorphism and lung cancer prognosis
Matakidou A, et al.
Br J Cancer 2007 May

Heme Oxygenase-1 Gene Promoter Polymorphism is Associated with Risk of Gastric Adenocarcinoma and Lymphovascular Tumor Invasion
Lo SS, et al.
Ann Surg Oncol 2007 May

Prognostic significance of folate metabolism polymorphisms for lung cancer
Matakidou A, et al.
Br J Cancer 2007 May

NAT2 Fast Acetylator Genotype is Associated with an Increased Risk of Colorectal Cancer in Taiwan
Huang CC, et al.
Dis Colon Rectum 2007 May

Fibronectin gene polymorphisms are associated with the development of B-cell lymphoma in type II mixed cryoglobulinemia
Fabris M, et al.
Ann Rheum Dis 2007 May

Genome-wide association study identifies novel breast cancer susceptibility loci
Easton DF, et al.
Nature 2007 May

A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
Hunter DJ, et al.
Nat Genet 2007 May

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
Stacey SN, et al.
Nat Genet 2007 May

No association of ERCC1 C8092A and T19007C polymorphisms to cancer risk: a meta-analysis
Li Y, et al.
Eur J Hum Genet 2007 May

Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients
Sulova M, et al.
Eur J Cancer 2007 May

Hair dye use, genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2), and risk of non-Hodgkin lymphoma
Morton LM, et al.
Carcinogenesis 2007 May

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia
Georgitsi M, et al.
J Clin Endocrinol Metab 2007 May

Clinicopathologic significance of BRAF V600E mutation in papillary carcinomas of the thyroid: a meta-analysis
Lee JH, et al.
Cancer 2007 May

Association of progesterone receptor gene polymorphism (PROGINS) with endometriosis, uterine fibroids and breast cancer
Govindan S, et al.
Cancer Biomark 2007;3(2):73-8

Polymorphisms in TRAIL receptor genes and risk of breast cancer in Spanish women
Martinez-Ferrandis JI, et al.
Cancer Biomark 2007;3(2):89-93

 

Endocrine, Nutritional and Metabolic Diseases

Fcgamma Receptor Polymorphisms are not Associated with Autoimmune Addison's Disease
Wolff AS, et al.
Scand J Immunol 2007 Jun;65(6):555-8

Detection of the C282Y and H63D Polymorphisms Associated With Hereditary Hemochromatosis Using the ABI 7500 FAST Real Time PCR Platform
Tafe LJ, et al.
Diagn Mol Pathol 2007 Jun;16(2):112-5

Susceptibility genes in Graves' ophthalmopathy: searching for a needle in a haystack?
Bednarczuk T, et al.
Clin Endocrinol (Oxf) 2007 May

Non synonymous polymorphisms in Melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene
Stutzmann F, et al.
Hum Mol Genet 2007 May

CETP genotypes and HDL-cholesterol phenotypes in the HERITAGE Family Study
Spielmann N, et al.
Physiol Genomics 2007 May

Association between decreased vitamin levels and MTHFR, MTR and MTRR gene polymorphisms as determinants for elevated total homocysteine concentrations in pregnant women
Barbosa PR, et al.
Eur J Clin Nutr 2007 May

Genetic Variation in Two Proteins of the Endocannabinoid System and their Influence on Body Mass Index and Metabolism under Low Fat Diet
Aberle J, et al.
Horm Metab Res 2007 May;39(5):395-7

 

Mental Disorders

Catechol-O-methyltransferase val108/158met genotype and response to antipsychotic medication in schizophrenia
Illi A, et al.
Hum Psychopharmacol 2007 May;22(4):211-5

Association of the COMT val158met Variant with Antidepressant Treatment Response in Major Depression
Baune BT, et al.
Neuropsychopharmacology 2007 May

Analysis of DRD4 and DAT polymorphisms and behavioral inhibition in healthy adults: Implications for impulsivity
Congdon E, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

D2 dopamine receptor gene haplotypes and their influence on alcohol and tobacco consumption magnitude in alcohol-dependent individuals
Preuss UW, et al.
Alcohol Alcohol 2007 May-2007 Jun;42(3):258-66

Differential dopamine receptor D4 allele association with ADHD dependent of proband season of birth
Brookes KJ, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

Evidence that the COMT(Val158Met) polymorphism moderates sensitivity to stress in psychosis: An experience-sampling study
van Winkel R, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

Meta-analyses suggest association between COMT, but not HTR1B, alleles, and suicidal behavior
Kia-Keating BM, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

Candidate gene analysis of 21q22: Support for S100B as a susceptibility gene for bipolar affective disorder with psychosis
Roche S, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

Association study between the corticotropin-releasing hormone receptor 2 gene and suicidality in bipolar disorder
De Luca V, et al.
Eur Psychiatry 2007 May

 

Diseases of the Nervous System and Sense Organs

Therapeutic Drug Monitoring and Clinical Outcomes in Epileptic Egyptian Patients: A Gene Polymorphism Perspective Study
Mohammed Ebid AH, et al.
Ther Drug Monit 2007 Jun;29(3):305-12

Apolipoprotein E Polymorphisms in Patients With Primary Open-Angle Glaucoma
Zetterberg M, et al.
Am J Ophthalmol 2007 Jun;143(6):1059-60

No association of CETP genotype with cognitive function or age-related cognitive change
Johnson W, et al.
Neurosci Lett 2007 May

An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis
Alkassab F, et al.
Rheumatology (Oxford) 2007 May

Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis
Coppede F, et al.
Neurosci Lett 2007 May

Prediction of psychosis onset in Alzheimer disease: The role of depression symptom severity and the HTR2A T102C polymorphism
Wilkosz PA, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 May

A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease
Haubenberger D, et al.
Mov Disord 2007 May

Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese
Kwan P, et al.
Epilepsy Behav 2007 May

The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica
McInnes LA, et al.
BMC Psychiatry 2007 May;7(1):21

CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland
Heggarty S, et al.
J Neuroimmunol 2007 May

Familial genes in sporadic disease: Common variants of alpha-synuclein gene associate with Parkinson's disease
Ross OA, et al.
Mech Ageing Dev 2007 Apr

CYP2D6 gene polymorphism as a probable risk factor for Alzheimer's disease and Parkinson's disease with dementia
Golab-Janowska M, et al.
Neurol Neurochir Pol 2007 Mar-2007 Apr;41(2):113-21

HLA-DRB1*1501, -DQB1*0301, -DQB1*0302, -DQB1*0602, and -DQB1*0603 Alleles are Associated With More Severe Disease Outcome on Mri in Patients With Multiple Sclerosis
Zivadinov R, et al.
Int Rev Neurobiol 2007;79C:521-35

 

 

Diseases of the Circulatory System

beta2-Adrenergic Receptor Gene Polymorphisms and Risk of Ischemic Stroke
Stanzione R, et al.
Am J Hypertens 2007 Jun;20(6):657-62

Sex Differences in the Relationship Between Estrogen Receptor Alpha Gene Polymorphisms and Arterial Stiffness in Older Humans
Hayashi K, et al.
Am J Hypertens 2007 Jun;20(6):650-6

Interaction of Genetic Risk Factors Confers Higher Risk for Thrombotic Stroke in Male Chinese: A Multicenter Case-Control Study
Shen CD, et al.
Ann Hum Genet 2007 May

Renin-Angiotensin System Haplotypes and the Risk of Myocardial Infarction and Stroke in Pharmacologically Treated Hypertensive Patients
Marciante KD, et al.
Am J Epidemiol 2007 May

The Bradykinin Type 2 Receptor BE1 Polymorphism and Ethnicity Influence Systolic Blood Pressure and Vascular Resistance
Pretorius MM, et al.
Clin Pharmacol Ther 2007 May

Association of single nucleotide polymorphisms in endothelin family genes with the progression of atherosclerosis in patients with essential hypertension
Yasuda H, et al.
J Hum Hypertens 2007 May

Prothrombotic Mutations as Risk Factors for Cryptogenic Ischemic Cerebrovascular Events in Young Subjects With Patent Foramen Ovale
Botto N, et al.
Stroke 2007 May

Effect of renin-angiotensin-aldosterone system gene polymorphisms on blood pressure response to antihypertensive treatment
Jiang X, et al.
Chin Med J (Engl) 2007 May;120(9):782-6

Renin-angiotensin-aldosterone system polymorphisms: a role or a hole in occurrence and long-term prognosis of acute myocardial infarction at young age
Franco E, et al.
BMC Med Genet 2007 May;8(1):27

The S447X polymorphism of lipoprotein lipase: effect on the incidence of premature coronary disease and on plasma lipids
Almeida KA, et al.
Arq Bras Cardiol 2007 Mar;88(3):297-303

Endothelial Lipase Gene Polymorphism is Associated With Acute Myocardial Infarction, Independently of High-Density Lipoprotein-Cholesterol Levels
Shimizu M, et al.
Circ J 2007;71(6):842-6

 

Diseases of the Respiratory System

Polymorphisms of STAT-6, STAT-4 and IFN-gamma genes and the risk of asthma in Chinese population
Li Y, et al.
Respir Med 2007 May

Filaggrin null mutations are associated with increased asthma severity in children and young adults
Palmer CN, et al.
J Allergy Clin Immunol 2007 May

Genetic polymorphisms of GSTP1 and mEPHX correlate with oxidative stress markers and lung function in COPD
Vibhuti A, et al.
Biochem Biophys Res Commun 2007 May

Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome
Thomas NJ, et al.
Acta Paediatr 2007 May

Smoking status increases risk of bronchial asthma in heterozygous carriers of Pro198Leu mutation within glutathione peroxidase-1 gene
Ter Arkh 2007;79(3):33-6

 

Diseases of the Digestive System

Heat shock protein gene 70-2 polymorphism is differentially associated with the clinical phenotypes of ulcerative colitis and Crohn's disease
Nam SY, et al.
J Gastroenterol Hepatol 2007 May

 

Diseases of the Genitourinary System

Genetic Association of Interleukin-4, Interleukin-10, and Transforming Growth Factor-beta Gene Polymorphism With Allograft Function in Renal Transplant Patients
Amirzargar M, et al.
Transplant Proc 2007 May;39(4):954-7

VNTR I/I genotype of insulin gene is associated with the increase of follicle number independent from polycystic ovary syndrome
Haller K, et al.
Acta Obstet Gynecol Scand 2007;86(6):726-32

 

Complications of Pregnancy, Childbirth, and the Puerperium

Synergistic effect of renin-angiotensin system and nitric oxide synthase genes polymorphisms in pre-eclampsia
Benedetto C, et al.
Acta Obstet Gynecol Scand 2007;86(6):678-82

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of HLA genes with Ankylosing Spondylitis in Han Population of eastern China
Fang M, et al.
Scand J Immunol 2007 Jun;65(6):559-66

TNF polymorphisms in psoriasis: Association of psoriatic arthritis with the promoter polymorphism TNF*-857 independent of the PSORS1 risk allele
Reich K, et al.
Arthritis Rheum 2007 May;56(6):2056-64

A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis
Wessels JA, et al.
Arthritis Rheum 2007 May;56(6):1765-75

Glucocorticoid receptor gene polymorphisms and susceptibility to rheumatoid arthritis
Donn R, et al.
Clin Endocrinol (Oxf) 2007 May

SNPs in the FOXP3 gene region show no association with Juvenile Idiopathic Arthritis in a UK Caucasian population
Eastell T, et al.
Rheumatology (Oxford) 2007 May

Polymorphisms in ALOX12, but not ALOX15, Are Significantly Associated With BMD in Postmenopausal Women
Mullin BH, et al.
Calcif Tissue Int 2007 May

Potential influence of IL1B haplotype and IL1A-IL1B-IL1RN extended haplotype on hand osteoarthritis risk
Moxley G, et al.
Osteoarthritis Cartilage 2007 May

ApoB C7623T polymorphism predicts risk for steroid-induced osteonecrosis of the femoral head after renal transplantation
Hirata T, et al.
J Orthop Sci 2007 May;12(3):199-206

 

Certain Conditions Originating in the Perinatal Period

Infant serotonin transporter (SLC6A4) promoter genotype is associated with adverse neonatal outcomes after prenatal exposure to serotonin reuptake inhibitor medications
Oberlander TF, et al.
Mol Psychiatry 2007 May

Passive Smoking, Metabolic Gene Polymorphisms, and Infant Birth Weight in a Prospective Cohort Study of Chinese Women
Wu T, et al.
Am J Epidemiol 2007 May

 

Injury and Poisoning

Apolipoprotein e4 allele presence and functional outcome after severe traumatic brain injury
Alexander S, et al.
J Neurotrauma 2007 May;24(5):790-7

 

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Page last reviewed: May 31, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics