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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
July 31, 2008
Volume 21, 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

Assessment of Carriers' Frequency of a Novel MRE11 Mutation Responsible for the Rare Ataxia Telangiectasia-Like Disorder
Alsbeih G, et al.
Genet Test 2008 Jul

Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by Screening ATP7B Major Mutations in Newborn Filter Papers Using the  SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System
Kim GH, et al.
Genet Test 2008 Jul

An unusually frequent beta-thalassemia mutation in an Iranian Province
Eshghi P, et al.
Hemoglobin 2008;32(4):387-92

 

Infectious and Parasitic Diseases

Variants in the Toll-Like Receptor Signaling Pathway and Clinical Outcomes of Malaria
Leoratti FM, et al.
J Infect Dis 2008 Jul

The associations between polymorphisms of APOBEC3G and different outcomes of persistent HBV infection
Tian D, et al.
Zhonghua Gan Zang Bing Za Zhi 2008 Jul;16(7):481-6

Absence of H186R Polymorphism in Exon 4 of the APOBEC3G Gene among North Indian Individuals
Rathore A, et al.
Genet Test 2008 Jul

CCR5Delta32 genotypes in a German HIV-1 seroconverter cohort and report of HIV-1  infection in a CCR5Delta32 homozygous individual
Oh DY, et al.
PLoS ONE 2008;3(7):e2747

 

Neoplasms

TP53 gene mutations of lung cancer patients in upper northern Thailand and environmental risk factors
Bumroongkit K, et al.
Cancer Genet Cytogenet 2008 Aug;185(1):20-7

Association of the Polymorphisms of MTHFR C677T, VDR C352T, and MPO G463A with Risk for Esophageal Squamous Cell Dysplasia and Carcinoma
Li D, et al.
Arch Med Res 2008 Aug;39(6):594-600

Computed Tomography-Guided Core-Needle Biopsy Specimens Demonstrate Epidermal Growth Factor Receptor Mutations in Patients with Non-Small-Cell Lung Cancer
Chen CM, et al.
Acta Radiol 2008 Jul:1-4

MHC loci affecting cervical cancer risk: distinguishing the effects of HLA-DQB1 and non-HLA genes TNF, LTA, TAP1 and TAP2
Ivansson EL, et al.
Genes Immun 2008 Jul

Promoter polymorphisms of DNMT3B and the risk of colorectal cancer in Chinese: A  case-control study
Fan H, et al.
J Exp Clin Cancer Res 2008 Jul;27(1):24

Clinical Significance of Interleukin-6 (Il-6) Gene Polymorphism and Il-6 Serum Level in Pancreatic Adenocarcinoma and Chronic Pancreatitis
Talar-Wojnarowska R, et al.
Dig Dis Sci 2008 Jul

Common MMP-7 Polymorphisms and Breast Cancer Susceptibility: A Multistage Study of Association and Functionality
Beeghly-Fadiel A, et al.
Cancer Res 2008 Jul

Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1  gene in Sri Lankan breast cancer patients and at risk individuals
De Silva W, et al.
BMC Cancer 2008 Jul;8(1):214

Replication of a genome-wide case-control study of esophageal squamous cell carcinoma
Ng D, et al.
Int J Cancer 2008 Jul

The D84E variant of the alpha-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset
F-de-Misa R, et al.
J Dermatol Sci 2008 Jul

A Functional Polymorphism in the miR-146a Gene and Age of Familial Breast/Ovarian Cancer Diagnosis
Shen J, et al.
Carcinogenesis 2008 Jul

mtDNA sequence variants in subtypes of epithelial ovarian cancer stages in relation to ethnic and age difference
Aikhionbare FO, et al.
Diagn Pathol 2008 Jul;3(1):32

Lack of Association of GSTT1, GSTM1, GSTO1, GSTP1 and CYP1A1 Polymorphisms for Susceptibility and Outcome in Brazilian Prostate Cancer Patients
Lima MM Jr, et al.
Folia Biol (Praha) 2008;54(3):102-8

 

Endocrine, Nutritional and Metabolic Diseases

Effect of ENPP1/PC-1-K121Q and PPARgamma-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population
Bouhaha R, et al.
Diabetes Res Clin Pract 2008 Jul

A Common P2 Promoter Polymorphism of the Hepatocyte Nuclear Factor-4alpha Gene Is Associated with Insulin Secretion in Non-Obese Japanese with Type 2 Diabetes
Tokunaga A, et al.
Endocr J 2008 Jul

Manganese superoxide dismutase Ala16Val polymorphism is associated with the development of type 2 diabetes in Japanese-Americans
Nakanishi S, et al.
Diabetes Res Clin Pract 2008 Jul

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population
Alsmadi O, et al.
BMC Med Genet 2008 Jul;9(1):72

Salt consumption-dependent association of the GNB3 gene polymorphism with type 2  DM
Daimon M, et al.
Biochem Biophys Res Commun 2008 Jul

Interaction between Calpain-5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach  to obesity
Saez ME, et al.
Cardiovasc Diabetol 2008 Jul;7(1):23

Impact on weight dynamics and general growth of the common FTO rs9939609: a longitudinal Danish cohort study
Jess T, et al.
Int J Obes (Lond) 2008 Jul

SUMO4 gene polymorphisms in Chinese Han patients with Behcet's disease
Hou S, et al.
Clin Immunol 2008 Jul

Thyroid-Stimulating Hormone and Free Thyroxine Levels in Persons with HFE C282Y Homozygosity, a Common Hemochromatosis Genotype: The HEIRS Study
Barton JC, et al.
Thyroid 2008 Jul

AR CAG repeat length is not associated with serum gonadal steroids and lipid levels in healthy men
Goutou M, et al.
Int J Androl 2008 Jul

The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol
Samani NJ, et al.
J Mol Med 2008 Jul

A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3
Concannon P, et al.
Diabetes 2008 Jul

FTO Gene Variant Is Associated with Obesity: Longitudinal Analyses in Two Cohort  Studies and Functional Test
Qi L, et al.
Diabetes 2008 Jul

PCLO Variants are Nominally Associated with Early Onset Type 2 Diabetes and Insulin Resistance in Pima Indians
Ma L, et al.
Diabetes 2008 Jul

Thyroglobulin polymorphisms in Tunisian patients with autoimmune thyroid diseases (AITD)
Belguith-Maalej S, et al.
Immunobiology 2008;213(7):577-83

 

Diseases of the Blood & Blood-Forming Organ Disorders

The Prevalence of the Platelet Glycoprotein IIIa Pl(A1/A2) Polymorphism in Three  South African Ethnic Groups and its Effect on Platelet Function
Naran NH, et al.
Thromb Res 2008 Jul

 

Mental Disorders

Panic disorder is associated with the serotonin transporter gene (SLC6A4) but not the promoter region (5-HTTLPR)
Strug LJ, et al.
Mol Psychiatry 2008 Jul

Association of the STin2 polymorphism of the serotonin transporter gene with a neurocognitive endophenotype in major depressive disorder
Sarosi A, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2008 Jul

Association between brain-derived neurotrophic factor gene and a severe form of bipolar disorder, but no interaction with the serotonin transporter gene
Vincze I, et al.
Bipolar Disord 2008 Jul;10(5):580-7

 

Diseases of the Nervous System and Sense Organs

HLA-DRB1( *)0401 and HLA-DRB1( *)0408 Are Strongly Associated with the Development of Antibodies against Interferon-beta Therapy in Multiple Sclerosis
Hoffmann S, et al.
Am J Hum Genet 2008 Jul

Vitamin D receptor gene polymorphism is associated with reduced disability in multiple sclerosis
Mamutse G, et al.
Mult Scler 2008 Jul

Association between the gamma-aminobutyric acid type B receptor 1 and 2 gene polymorphisms and mesial temporal lobe epilepsy in a Han Chinese population
Wang X, et al.
Epilepsy Res 2008 Jul

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The GenePD study
McNicoll CF, et al.
Mov Disord 2008 Jul

Association of APOE with age at onset of sporadic amyotrophic lateral sclerosis
Zetterberg H, et al.
J Neurol Sci 2008 Jul

Nitric oxide synthase genes and their interactions with environmental factors in  Parkinson's disease
Hancock DB, et al.
Neurogenetics 2008 Jul

Association Between Polymorphisms in the beta2-adrenoceptor Gene and Migraine in  Women
Schurks M, et al.
Headache 2008 Jul

Age and apoE associations with complex pathologic features in Alzheimer's disease
Jicha GA, et al.
J Neurol Sci 2008 Jul

Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
Rubio JP, et al.
Genes Immun 2008 Jul

Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes
Aung T, et al.
Mol Vis 2008;14:1313-8

 

Diseases of the Circulatory System

Validation of the association of genetic variants on chromosome 9p21 and 1q41 with myocardial infarction in a Japanese population
Hiura Y, et al.
Circ J 2008 Aug;72(8):1213-7

Alpha-adducin polymorphism associated with increased risk of adverse cardiovascular outcomes: results from GENEtic Substudy of the INternational VErapamil SR-trandolapril STudy (INVEST-GENES)
Gerhard T, et al.
Am Heart J 2008 Aug;156(2):397-404

Effect of monocyte chemoattractant protein-1 (MCP-1) gene polymorphism in Turkish patients with premature coronary artery disease
Cam SF, et al.
Scand J Clin Lab Invest 2008 Jul:1-5

Functional promoter variant in zinc finger protein 202 predicts severe atherosclerosis and ischemic heart disease
Stene MC, et al.
J Am Coll Cardiol 2008 Jul;52(5):369-77

A common polymorphism in the renin angiotensin system is associated with differential outcome of antihypertensive pharmacotherapy prescribed to Brazilian  older women
Moraes CF, et al.
Clin Chim Acta 2008 Jul

Investigation of Association between Plasminogen Activator Inhibitor Type-1 (PAI-1) Gene 4G/5G Polymorphism Frequency and Plasma PAI-1 Enzyme Activity in Patients with Acute Stroke
Kucukarabaci B, et al.
Genet Test 2008 Jul

Lack of Association between Angiotensin-converting Enzyme Gene Polymorphism and Type I Aortic Dissection
Tangurek B, et al.
J Int Med Res 2008 Jul-2008 Aug;36(4):714-20

The angiotensin-converting enzyme I/D polymorphism is associated with phagocytic  NADPH oxidase-dependent superoxide generation: potential implication in hypertension
San Jose G, et al.
Clin Sci (Lond) 2008 Jul

Lipoprotein lipase variants associated with an endophenotype of hypertension: hypertension combined with elevated triglycerides
Chen P, et al.
Hum Mutat 2008 Jul

Long-Term Survival after Ischemic Stroke in Postmenopausal Women Is Affected by an Interaction between Smoking and Genetic Variation in Nitric Oxide Synthases
Oksala NK, et al.
Cerebrovasc Dis 2008 Jul;26(3):250-8

Polymorphisms of the endothelin-1 gene associate with hypertension in patients with rheumatoid arthritis
Panoulas VF, et al.
Endothelium 2008 Jul-2008 Aug;15(4):203-12

Association of genetic variation on chromosome 9p21 with susceptibility and progression of atherosclerosis: a population-based, prospective study
Ye S, et al.
J Am Coll Cardiol 2008 Jul;52(5):378-84

Synergistic effects between 561A > C and 98G > T polymorphisms of E-selectin gene and hypercholesterolemia in determining the susceptibility to coronary artery disease
Zak I, et al.
Heart Vessels 2008 Jul;23(4):257-63

Factor V HR2 haplotype: a risk factor for venous thromboembolism in individuals with absence of Factor V Leiden
Otrock ZK, et al.
Ann Hematol 2008 Jul

Prothrombotic gene variation and new vascular events after cerebral ischemia of arterial origin
Pruissen DM, et al.
J Thromb Haemost 2008 Jul

 

Diseases of the Respiratory System

The CFTR M470V Gene Variant as a Potential Modifier of COPD Severity-Study of Serbian Population
Stankovic M, et al.
Genet Test 2008 Jul

HLA-DQB1 and -DPB1 allele profile in HIV infected patients with and without pulmonary tuberculosis of south India
Selvaraj P, et al.
Infect Genet Evol 2008 Jul

 

Diseases of the Digestive System

Squamous cell carcinoma antigen-1 (SERPINB3) polymorphism in chronic liver disease
Turato C, et al.
Dig Liver Dis 2008 Jul

Frequency of representative single nucleotide polymorphisms associated with inflammatory bowel disease in the czech republic and slovak republic
Hosek J, et al.
Folia Biol (Praha) 2008;54(3):88-96

 

Diseases of the Genitourinary System

Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis
Zhao ZZ, et al.
Mol Hum Reprod 2008 Jul

TCF7L2 Variants Associate with CKD Progression and Renal Function in Population-Based Cohorts
Kottgen A, et al.
J Am Soc Nephrol 2008 Jul

 

Complications of Pregnancy, Childbirth, and the Puerperium

Interleukin-4 -590 (C>T), toll-like receptor-2 +2258 (G>A) and matrix metalloproteinase-9 -1562 (C>T) polymorphisms in pre-eclampsia
Fraser R, et al.
BJOG 2008 Jul;115(8):1052-6; discussion 1056

 

Diseases of the Skin and Subcutaneous Tissue

Polymorphisms of the VDR gene are associated with presence of solar keratoses on  the skin
Carless MA, et al.
Br J Dermatol 2008 Jul

Detailed genetic characterization of the interleukin-23 receptor in psoriasis
Garcia VE, et al.
Genes Immun 2008 Jul

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of interleukin-6 gene polymorphisms with bone mineral density in mexican women
Magana JJ, et al.
Arch Med Res 2008 Aug;39(6):618-24

Evidence for association of an interleukin-23 receptor variant independent of the R381Q variant with rheumatoid arthritis
Hollis-Moffatt JE, et al.
Ann Rheum Dis 2008 Jul

G/T polymorphism in the interleukin-2 exon 1 region among Han Chinese systemic lupus erythematosus patients in Taiwan
Lin YJ, et al.
Clin Immunol 2008 Jul

A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2
Chang M, et al.
PLoS Genet 2008;4(6):e1000107

 

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Page last reviewed: July 31, 2008 (archived document)
Content Source: National Office of Public Health Genomics