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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
August 3, 2006
Volume 17, No. 5

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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

High-resolution molecular characterization of the HLA class I and class II in the Tarahumara Amerindian population
Garcia-Ortiz JE, et al.
Tissue Antigens 2006 Aug;68(2):135-46

Analysis of HLA-B Locus Gene Polymorphism in Sichuan Yi Ethnic Group and Xinjiang Uygur Ethnic Group
Xu MY, et al.
Yi Chuan 2006 Aug;28(8):913-7

The contribution of HLA class I and II alleles and haplotypes to the investigation of the evolutionary history of Tunisians
Hajjej A, et al.
Tissue Antigens 2006 Aug;68(2):153-62

Diversity of human leukocyte antigen-B27 alleles in Han population of Hunan province, southern China
Ma HJ & Hu FP
Tissue Antigens 2006 Aug;68(2):163-6

CYP2D6 Genetic Polymorphism in South Indian Populations
Naveen AT, et al.
Biol Pharm Bull 2006 Aug;29(8):1655-8

 

Infectious and Parasitic Diseases

Cohort- and time-specific associations of CTLA4 genotypes with HIV-1 disease progression
Shao W, et al.
AIDS 2006 Aug;20(12):1583-90

Influence of genotypes and precore mutations on fulminant or chronic outcome of acute hepatitis B virus infection
Ozasa A, et al.
Hepatology 2006 Jul;44(2):326-34

           

 

Neoplasms

Microsatelite GT polymorphism in the toll-like receptor 2 is associated with colorectal cancer
Boraska Jelavic T, et al.
Clin Genet 2006 Aug;70(2):156-60

Prospective study of FGFR3 mutations as a prognostic factor in nonmuscle invasive urothelial bladder carcinomas
Hernandez S, et al.
J Clin Oncol 2006 Aug;24(22):3664-71

MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients
Pardanani AD, et al.
Blood 2006 Jul

MDM2 309T>G polymorphism and risk of lung cancer in a Korean population
Park SH, et al.
Lung Cancer 2006 Jul

XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer
Chung HH, et al.
Gynecol Oncol 2006 Jul

Single nucleotide polymorphisms of the TGFB1 gene and lung cancer risk in a Korean population
Park KH, et al.
Cancer Genet Cytogenet 2006 Aug;169(1):39-44

Folate cycle gene variants and chemotherapy toxicity in pediatric patients with acute lymphoblastic leukemia
Costea I, et al.
Haematologica 2006 Jul

Polymorphism of the DNA repair gene ERCC2 Lys751Gln and risk of lung cancer in a northeastern Chinese population
Yin J, et al.
Cancer Genet Cytogenet 2006 Aug;169(1):27-32

Single nucleotide polymorphisms in DNA repair genes might be prognostic factors in muscle-invasive bladder cancer patients treated with chemoradiotherapy
Sakano S, et al.
Br J Cancer 2006 Aug

 

Endocrine, Nutritional and Metabolic Diseases

Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects
Yokoi N, et al.
Diabetes 2006 Aug;55(8):2379-86

The European-specific mitochondrial cluster J/T could confer an increased risk of insulin-resistance and type 2 diabetes: an analysis of the m.4216T > C and m.4917A > G variants
Crispim D, et al.
Ann Hum Genet 2006 Jul;70(Pt 4):488-95

Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET
Jun JK, et al.
J Hum Genet 2006 Jul

Assessment of the Role of Common Genetic Variation in the Transient Neonatal Diabetes Mellitus (TNDM) Region in Type 2 Diabetes: A Comparative Genomic and Tagging Single Nucleotide Polymorphism Approach
Gloyn AL, et al.
Diabetes 2006 Aug;55(8):2272-6

Insulin Gene VNTR Genotype and Metabolic Syndrome in Childhood Obesity
Santoro N, et al.
J Clin Endocrinol Metab 2006 Jul

The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women
Evans D & Beil FU
BMC Med Genet 2006 Jul;7(1):66

Neither an intronic CA repeat within the CD48 gene nor the HERV-K18 polymorphisms are associated with type 1 diabetes
Ramos-Lopez E, et al.
Tissue Antigens 2006 Aug;68(2):147-52

IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women
Guglielmi L, et al.
Allergy 2006 Aug;61(8):921-7

The ACAA-insertion/deletion polymorphism at the 3' UTR of the IGF-II receptor gene is associated with type 2 diabetes and surrogate markers of insulin resistance
Villuendas G, et al.
Eur J Endocrinol 2006 Aug;155(2):331-6

Analysis of Coding Variants in the Betacellulin Gene in Type 2 Diabetes and Insulin Secretion in African American Subjects
Elbein SC, et al.
BMC Med Genet 2006 Jul;7(1):62

 

Mental Disorders

Association of DRD2 polymorphisms and chlorpromazine-induced extrapyramidal syndrome in Chinese schizophrenic patients
Wu SN, et al.
Acta Pharmacol Sin 2006 Aug;27(8):966-70

No Observable Relationship between the ACE Gene Insertion/Deletion Polymorphism and Psychometric IQ and Psychomotor Ability in Chinese Children
Gao J, et al.
Neuropsychobiology 2006 Jul;53(4):196-202

Effects of the Serotonin Type 2A, 3A and 3B Receptor and the Serotonin Transporter Genes on Paroxetine and Fluvoxamine Efficacy and Adverse Drug Reactions in Depressed Japanese Patients
Kato M, et al.
Neuropsychobiology 2006 Jul;53(4):186-95

Impaired Temporal Resolution of Visual Attention and Dopamine Beta Hydroxylase Genotype in Attention-Deficit/Hyperactivity Disorder
Bellgrove MA, et al.
Biol Psychiatry 2006 Jul

Association study of the dysbindin (DTNBP1) gene in schizophrenia from the Japanese population
Tochigi M, et al.
Neurosci Res 2006 Jul

Catechol-O-Methyltransferase (COMT) Gene Variants Predict Response to Bupropion Therapy for Tobacco Dependence
Berrettini WH, et al.
Biol Psychiatry 2006 Jul

           

 

Diseases of the Nervous System and Sense Organs

Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology
Shadrina M, et al.
Neurosci Lett 2006 Jul

Positive association between risk for late-onset Alzheimer disease and genetic variation in IDE
Bjork BF, et al.
Neurobiol Aging 2006 Jul

Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation
Tejada MI, et al.
Clin Genet 2006 Aug;70(2):140-4

Intravenous synthetic peptide MBP8298 delayed disease progression in an HLA Class II-defined cohort of patients with progressive multiple sclerosis: results of a 24-month double-blind placebo-controlled clinical trial and 5 years of follow-up treatment
Warren KG, et al.
Eur J Neurol 2006 Aug;13(8):887-95

Association of mu-opioid receptor gene polymorphism (A118G) with variations in morphine consumption for analgesia after total knee arthroplasty
Chou WY, et al.
Acta Anaesthesiol Scand 2006 Aug;50(7):787-92

Association of the Y402H Polymorphism in Complement Factor H Gene and Neovascular Age-Related Macular Degeneration in Chinese Patients
Lau LI, et al.
Invest Ophthalmol Vis Sci 2006 Aug;47(8):3242-6

Correlation of tau gene polymorphism with age at onset of Parkinson's disease
Kobayashi H, et al.
Neurosci Lett 2006 Jul

A Glaucoma Case-control Study of the WDR36 Gene D658G Sequence Variant
Hewitt AW, et al.
Am J Ophthalmol 2006 Aug;142(2):324-5

Genetic polymorphisms of vascular endothelial growth factor and angiopoietin 2 in retinopathy of prematurity
Banyasz I, et al.
Curr Eye Res 2006 Jul-2006 Aug;31(7):685-90

Personality, Dopamine Receptor D4 Exon III Polymorphisms, and Academic Achievement in Medical Students
Ham BJ, et al.
Neuropsychobiology 2006 Jul;53(4):203-9

An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians
Bugeja MJ, et al.
BMC Med Genet 2006 Jul;7(1):64

Three Allele Combinations Associated with Multiple Sclerosis
Favorova OO, et al.
BMC Med Genet 2006 Jul;7(1):63

Circulating cholesterol levels, apolipoprotein E genotype and dementia severity influence the benefit of atorvastatin treatment in Alzheimer's disease: results of the Alzheimer's Disease Cholesterol-Lowering Treatment (ADCLT) trial
Sparks DL, et al.
Acta Neurol Scand Suppl 2006;185:3-7

Human Opioid Receptor A118G Polymorphism Affects Intravenous Patient-controlled Analgesia Morphine Consumption after Total Abdominal Hysterectomy
Chou WY, et al.
Anesthesiology 2006 Aug;105(2):334-7

Genetic Association Between USF 1 and USF 2 Gene Polymorphisms and Japanese Alzheimer's Disease
Shibata N, et al.
J Gerontol A Biol Sci Med Sci 2006 Jul;61(7):660-2

 

Diseases of the Circulatory System

Associations between two common polymorphisms in the ABCA1 gene and subclinical atherosclerosis: Multi-Ethnic Study of Atherosclerosis (MESA)
Benton JL, et al.
Atherosclerosis 2006 Jul

Polymorphisms of prostaglandin-endoperoxide synthase 2 gene, and prostaglandin-E receptor 2 gene, C-reactive protein concentrations and risk of atherothrombosis: a nested case-control approach
Hegener HH, et al.
J Thromb Haemost 2006 Aug;4(8):1718-22

The C-480T hepatic lipase polymorphism is associated with HDL-C but not with risk of coronary heart disease
McCaskie PA, et al.
Clin Genet 2006 Aug;70(2):114-21

Polymorphisms of the inflammatory system and risk of ischemic cerebrovascular events
Lalouschek W, et al.
Clin Chem Lab Med 2006;44(8):918-23

Is there an association between angiotensin-converting enzyme gene polymorphism and functional activation of monocytes and macrophage in young patients with essential hypertension?
Zapolska-Downar D, et al.
J Hypertens 2006 Aug;24(8):1565-73

Factor V Leiden is not commonly associated with idiopathic portal vein thrombosis in Southern India
Koshy A & Jeyakumari M
Indian J Gastroenterol 2006 Jul-2006 Sep;25(3):140-2

A functional polymorphism in the lymphotoxin-alpha gene is associated with carotid artery wall thickness: The Diabetes Heart Study
Liu Y, et al.
Eur J Cardiovasc Prev Rehabil 2006 Aug;13(4):655-7

Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study
Ogata T, et al.
BMC Med Genet 2006 Jul;7(1):67

Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients
Collins RP, et al.
Am Heart J 2006 Aug;152(2):312-20

Association of Gln222Arg polymorphism in the deoxyribonuclease I (DNase I) gene with myocardial infarction in Japanese patients
Kumamoto T, et al.
Eur Heart J 2006 Jul

Gene polymorphisms of the Renin-Angiotensin system and early development of hypertension
Barbalic M, et al.
Am J Hypertens 2006 Aug;19(8):837-42

Effects of Dopamine Receptor Type 1 and Gs Protein alpha Subunit Gene Polymorphisms on Blood Pressure at Rest and in Response to Stress
Lu Y, et al.
Am J Hypertens 2006 Aug;19(8):832-6

Angiotensin-converting enzyme genotype predicts cardiac and autonomic responses to prolonged exercise
Ashley EA, et al.
J Am Coll Cardiol 2006 Aug;48(3):523-31

Association of atrial natriuretic peptide and type a natriuretic peptide receptor gene polymorphisms with left ventricular mass in human essential hypertension
Rubattu S, et al.
J Am Coll Cardiol 2006 Aug;48(3):499-505

 

Diseases of the Respiratory System

Tumour necrosis factor gene complex polymorphisms in chronic obstructive pulmonary disease
Ruse CE, et al.
Respir Med 2006 Jul

 

Diseases of the Genitourinary System

The association between intron 4 VNTR, E298A and IVF 23+10 G/T polymorphisms of ecNOS gene and sildenafil responsiveness in patients with erectile dysfunction
Peskircioglu L, et al.
Int J Impot Res 2006 Jul

The PON1-108C/T polymorphism, and not the polycystic ovary syndrome, is an important determinant of reduced serum paraoxonase activity in premenopausal women
San Millan JL, et al.
Hum Reprod 2006 Jul

 

Complications of Pregnancy, Childbirth, and the Puerperium

Haptoglobin polymorphism in patients with preeclampsia
Depypere HT, et al.
Clin Chem Lab Med 2006;44(8):924-8

Role of C825T polymorphism of GNbeta3 gene in preeclampsia
Tang X, et al.
Hypertens Pregnancy 2006;25(2):93-101

MTHFR C677T polymorphism is not associated with placental abruption or preeclampsia in Finnish women
Jaaskelainen E, et al.
Hypertens Pregnancy 2006;25(2):73-80

The -56T HLA-G promoter polymorphism is not associated with pre-eclampsia/eclampsia in Australian and New Zealand women
Doherty VL, et al.
Hypertens Pregnancy 2006;25(2):63-71

 

Diseases of the Skin and Subcutaneous Tissue

Toll-like receptor (TLR) 4 polymorphism Asp299Gly is not associated with disease course in Dutch sarcoidosis patients
Veltkamp M, et al.
Clin Exp Immunol 2006 Aug;145(2):215-8

GSTM1 and GSTT1 null genotypes as possible heritable factors of rosacea
Yazici AC, et al.
Photodermatol Photoimmunol Photomed 2006 Aug;22(4):208-10

 

Diseases of the Musculoskeletal System and Connective Tissue

Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus
Kaufman KM, et al.
Arthritis Rheum 2006 Jul;54(8):2533-40

Influence of CTLA4 haplotypes on susceptibility and some extraglandular manifestations in primary Sjogren's syndrome
Downie-Doyle S, et al.
Arthritis Rheum 2006 Jul;54(8):2434-40

Cyclooxygenase-2 polymorphisms and risk of systemic lupus erythematosus in Koreans
Her MY, et al.
Rheumatol Int 2006 Jul

Tumor necrosis factor receptor 2 M196R polymorphism in rheumatoid arthritis and osteoarthritis: relationship with sTNFR2 levels and clinical features
Oregon-Romero E, et al.
Rheumatol Int 2006 Jul

 

Congenital Anomalies

MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population
Tongkobpetch S, et al.
J Hum Genet 2006 Jul

 

 

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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