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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
April 17, 2008
Volume 20, No. 16

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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

Single Nucleotide Polymorphisms of the Pregnane X Receptor Gene in Han Chinese and a Comparison with Other Ethnic Populations
Wang XD, et al.
Pharmacology 2008 Apr;81(4):350-4

Genetic polymorphism of MTHFR G1793A in Chinese populations
Mao R, et al.
Eur J Epidemiol 2008 Apr

Polymorphisms of Glutathione S-transferases Omega-1 among ethnic populations in China
Fu S, et al.
BMC Genet 2008 Apr;9(1):29

Study on genetic polymorphisms of P-selectins in Chinese Han of Chengdu and Thai populations
Wei YS, et al.
Sichuan Da Xue Xue Bao Yi Xue Ban 2008 Jan;39(1):55-8

 

Infectious and Parasitic Diseases

Host Genetic Influences on Highly Active Antiretroviral Therapy Efficacy and AIDS-Free Survival
Hendrickson SL, et al.
J Acquir Immune Defic Syndr 2008 Mar

Lack of association between TREM-1 gene polymorphisms and severe sepsis in a Chinese Han population
Chen Q, et al.
Hum Immunol 2008 Mar;69(3):220-6

 

Neoplasms

CCR5 Delta32 polymorphism: associated with gallbladder cancer susceptibility
Srivastava A, et al.
Scand J Immunol 2008 May;67(5):516-22

MDR1 diplotypes as prognostic markers in multiple myeloma
Maggini V, et al.
Pharmacogenet Genomics 2008 May;18(5):383-9

Combinational polymorphisms of four DNA repair genes XRCC1, XRCC2, XRCC3, and XRCC4 and their association with oral cancer in Taiwan
Yen CY, et al.
J Oral Pathol Med 2008 May;37(5):271-7

Folate pathway genetic polymorphisms and susceptibility of central nervous system tumors in Thai children
Sirachainan N, et al.
Cancer Detect Prev 2008 Apr

Association of single nucleotide polymorphisms (SNPs) in TNF-LTA locus with breast cancer risk in Indian population
Kohaar I, et al.
Breast Cancer Res Treat 2008 Apr

Ovarian cancer risk is associated with a common variant in the promoter sequence  of the mismatch repair gene MLH1
Harley I, et al.
Gynecol Oncol 2008 Apr

DNMT3B 579 G>T promoter polymorphism and risk of esophagus carcinoma in Chinese
Fan H, et al.
World J Gastroenterol 2008 Apr;14(14):2230-4

Association between CYP2D6 *10 genotype and survival of breast cancer patients receiving tamoxifen treatment
Xu Y, et al.
Ann Oncol 2008 Apr

XRCC1 polymorphisms, cooking oil fume and lung cancer in Chinese women nonsmokers
Li M, et al.
Lung Cancer 2008 Apr

MDM2 and p53 Polymorphisms are Associated with the Development of Hepatocellular  Carcinoma in Patients with Chronic Hepatitis B Virus Infection
Yoon YJ, et al.
Carcinogenesis 2008 Apr

XRCC1 polymorphisms and severe toxicity in lung cancer patients treated with cisplatin-based chemotherapy in Chinese population
Wang Z, et al.
Lung Cancer 2008 Apr

Variation in bleomycin hydrolase gene is associated with reduced survival after chemotherapy for testicular germ cell cancer
de Haas EC, et al.
J Clin Oncol 2008 Apr;26(11):1817-23

Association of TP53 gene polymorphisms with genetic susceptibility to liver metastases of colorectal cancer
Wang A, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Apr;25(2):168-71

Opposite impact of NKG2D genotype by lifestyle exposure to risk of aerodigestive  tract cancer among Japanese
Furue H, et al.
Int J Cancer 2008 Apr

JAK2 V617F patients with essential thrombocythemia present with clinical features of polycythemia vera
Zhang S, et al.
Leuk Lymphoma 2008 Apr;49(4):696-9

Association of three single nucleotide polymorphisms of the E-cadherin gene with susceptibility to epithelial ovarian carcinoma
Liang J, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Apr;25(2):183-6

Polymorphisms of TNF-alpha and LT-alpha genes in multiple myeloma
Kadar K, et al.
Leuk Res 2008 Apr

Genetic polymorphisms of GSTO2, GSTM1, and GSTT1 and risk of gastric cancer
Masoudi M, et al.
Mol Biol Rep 2008 Apr

Single nucleotide polymorphisms in obesity-related genes and the risk of esophageal cancers
Doecke JD, et al.
Cancer Epidemiol Biomarkers Prev 2008 Apr;17(4):1007-12

Coffee Consumption and CYP1A2*1F Genotype Modify Age at Breast Cancer Diagnosis and Estrogen Receptor Status
Bageman E, et al.
Cancer Epidemiol Biomarkers Prev 2008 Apr;17(4):895-901

Association between Genetic Polymorphisms of Macrophage Scavenger Receptor 1 Gene and Risk of Prostate Cancer in the Health Professionals Follow-up Study
Chen YC, et al.
Cancer Epidemiol Biomarkers Prev 2008 Apr;17(4):1001-3

Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the  prohibitin 3' untranslated region polymorphism
Jakubowska A, et al.
BMC Cancer 2008 Apr;8(1):90

MDM2 SNP309 Is Associated with Endometrial Cancer Risk
Terry K, et al.
Cancer Epidemiol Biomarkers Prev 2008 Apr;17(4):983-6

Association of the XRCC1 and hOGG1 polymorphisms with the risk of laryngeal carcinoma
Yang Y, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Apr;25(2):211-3

Polymorphisms in angiogenesis-related genes and prostate cancer
Jacobs EJ, et al.
Cancer Epidemiol Biomarkers Prev 2008 Apr;17(4):972-7

The Common D302H Variant of CASP8 Is Associated with Risk of Glioma
Bethke L, et al.
Cancer Epidemiol Biomarkers Prev 2008 Apr;17(4):987-9

Transcription Factor 7-like 2 Polymorphism and Colon Cancer
Slattery ML, et al.
Cancer Epidemiol Biomarkers Prev 2008 Apr;17(4):978-82

Role of Environmental and Genetic Factor Interaction in Age-related Disease Development: The Gastric Cancer Paradigm
Forte GI, et al.
Rejuvenation Res 2008 Apr

Potential influence of interleukin-1 haplotype IL-1beta-511*T-IL-1RN*1 in conferring low risk to middle third location of esophageal cancer: A case-control study
Upadhyay R, et al.
Hum Immunol 2008 Mar;69(3):179-86

Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with B-cell chronic lymphocytic leukemia in the Polish population
Suwalska K, et al.
Hum Immunol 2008 Mar;69(3):193-201

 

Endocrine, Nutritional and Metabolic Diseases

Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans
Wermter AK, et al.
Eur J Hum Genet 2008 Apr

Influence of the cystathionine beta-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations
Summers CM, et al.
Eur J Hum Genet 2008 Apr

Total serum cholesterol levels and Alzheimer's dementia in patients with Down syndrome
Prasher VP, et al.
Int J Geriatr Psychiatry 2008 Apr

Early onset of polyglandular failure is associated with HLA-DRB1*03
Dittmar M, et al.
Eur J Endocrinol 2008 Apr

A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population
Brorsson C, et al.
Mol Genet Metab 2008 Apr

Association of the interleukin (IL)-16 gene polymorphisms with Graves' disease
Gu XJ, et al.
Clin Immunol 2008 Apr

TCF7L2 Polymorphisms are Associated with Type 2 Diabetes in Khatri Sikhs from North India: Genetic Variation Affects Lipid Levels
Sanghera DK, et al.
Ann Hum Genet 2008 Apr

TIM-3 polymorphisms in type 1 diabetes families
Bruck P, et al.
J Hum Genet 2008 Apr

Genetic Polymorphisms of beta2- and beta3-Adrenergic Receptor Genes Associated with Characteristics of the Metabolic Syndrome in Black South African Women
Rooyen JM, et al.
Exp Clin Endocrinol Diabetes 2008 Apr;116(4):236-40

Familial mediterranean Fever in armenian population
Sarkisian T, et al.
Georgian Med News 2008 Mar(156):105-11

 

Mental Disorders

Stargazin involvement with bipolar disorder and response to lithium treatment
Silberberg G, et al.
Pharmacogenet Genomics 2008 May;18(5):403-12

Lack of influence of COMT Val158Met genotype on cognition in first-episode non-affective psychosis
Mata I, et al.
Schizophr Res 2008 Apr

Some ADHD polymorphisms (in genes DAT1, DRD2, DRD3, DBH, 5-HTT) in case-control study of 100 subjects 6-10 age
Kopeckova M, et al.
Neuro Endocrinol Lett 2008 Apr;29(2)

The transmission disequilibrium analysis between neuronal nicotinic acetylcholine receptor alpha 7 subunit gene polymorphisms and schizophrenia
Peng Z, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Apr;25(2):154-8

Polymorphisms in the brain-specific thyroid hormone transporter OATP1C1 are associated with fatigue and depression in hypothyroid patients
van der Deure WM, et al.
Clin Endocrinol (Oxf) 2008 Apr

FBXL21 association with schizophrenia in irish family and case-control samples
Chen X, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Apr

No pathogenic rearrangement within the DISC 1 gene in psychosis
Legallic S, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Apr

BDNF gene is a genetic risk factor for schizophrenia and is related to the chlorpromazine-induced extrapyramidal syndrome in the Chinese population
Xu MQ, et al.
Pharmacogenet Genomics 2008 Apr

 

Diseases of the Nervous System and Sense Organs

EVI5 is a risk gene for multiple sclerosis
Hoppenbrouwers IA, et al.
Genes Immun 2008 Apr

Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects
Dai L, et al.
J Hum Genet 2008 Apr

APOE {epsilon}4 allele predicts faster cognitive decline in mild Alzheimer disease
Cosentino S, et al.
Neurology 2008 Apr

Genetic analysis of tumor necrosis factor-alpha (TNF-alpha) G-308A and Saitohin Q7R polymorphisms with Alzheimer's disease
Wang B, et al.
J Neurol Sci 2008 Apr

Distribution of APOE Genotypes in a Memory Clinic Cohort
van der Flier WM, et al.
Dement Geriatr Cogn Disord 2008 Apr;25(5):433-8

Haplotype Analysis Confirms the Association Between the HCRTR2 Gene and Cluster Headache
Rainero I, et al.
Headache 2008 Apr

No Association Found Between the Promoter Variants of TNF-alpha and Diabetic Retinopathy in Chinese Patients with Type 2 Diabetes
Wang N, et al.
Curr Eye Res 2008 Apr;33(4):377-83

SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population
Bettens K, et al.
Hum Mutat 2008 Apr;29(5):769-70

Genetic association between alpha-synuclein and idiopathic parkinson's disease
Kay DM, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Apr

Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease
Bogaerts V, et al.
Hum Mutat 2008 Apr

Estrogen Receptor-alpha Variants Increase Risk of Alzheimer's Disease in Women with Down Syndrome
Schupf N, et al.
Dement Geriatr Cogn Disord 2008 Apr;25(5):476-82

Lack of an Association between Alzheimer's Disease and the Cystatin C (CST3) Gene G73A Polymorphism in Mainland Chinese
Wang B, et al.
Dement Geriatr Cogn Disord 2008 Apr;25(5):461-4

Association of LOC387715 A69S With Vitreous Hemorrhage in Polypoidal Choroidal Vasculopathy
Sakurada Y, et al.
Am J Ophthalmol 2008 Apr

Association between AKT1 gene and Parkinson's disease: A protective haplotype
Xiromerisiou G, et al.
Neurosci Lett 2008 Mar

Exercise, APOE, and working memory: MEG and behavioral evidence for benefit of exercise in epsilon4 carriers
Deeny SP, et al.
Biol Psychol 2008 Mar

 

Diseases of the Circulatory System

Polymorphism in the sorbin and SH3-domain-containing-1 (SORBS1) gene and the risk of brain infarction in the Japanese population: the Fukuoka Stroke Registry and the Hisayama study
Hagiwara N, et al.
Eur J Neurol 2008 May;15(5):481-6

Relationships among endogenous ouabain, alpha-adducin polymorphisms and renal sodium handling in primary hypertension
Manunta P, et al.
J Hypertens 2008 May;26(5):914-20

Vascular stiffness is related to superoxide generation in the vessel wall
Delles C, et al.
J Hypertens 2008 May;26(5):946-55

Association of TNFRSF4 gene polymorphisms with essential hypertension
Mashimo Y, et al.
J Hypertens 2008 May;26(5):902-13

Association of CETP and CRP gene polymorphisms with non-valvular atrial fibrillation in Chinese Han population
Yang W, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Apr;25(2):225-9

Haplotypes of the EPCR gene, prothrombin levels, and the risk of venous thrombosis in carriers of the prothrombin G20210A mutation
Navarro S, et al.
Haematologica 2008 Apr

Polymorphisms in Platelet Glycoprotein 1b{alpha} and Factor VII and Risk of Ischemic Stroke. A Meta-Analysis
Maguire JM, et al.
Stroke 2008 Apr

Factor VII-activating protease in patients with acute deep venous thrombosis
Sidelmann JJ, et al.
Thromb Res 2008 Apr

Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Ji W, et al.
Nat Genet 2008 Apr

Factor VII, blood lipids and fat intake: gene-nutrient interaction and risk of coronary heart disease with the factor VII R353Q polymorphism
Bowman R, et al.
Eur J Clin Nutr 2008 Apr

Inherited thrombophilic abnormalities and risk of portal vein thrombosis. A meta-analysis
Dentali F, et al.
Thromb Haemost 2008 Apr;99(4):675-82

Association of PAI-1 gene polymorphism with prognosis of coronary artery disease
Zhang A, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Apr;25(2):233-5

The M235T polymorphism of the AGT gene modifies the risk of coronary artery disease associated with the presence of hypercholesterolemia
Niemiec P, et al.
Eur J Epidemiol 2008 Apr

Association of alpha-adducin and angiotensin converting enzyme gene polymorphisms with salt-sensitive hypertension and early renal injury
Lu L, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Apr;25(2):132-5

Synergistic effect between apolipoprotein E and apolipoprotein A1 gene polymorphisms in the risk for coronary artery disease
Rai TS, et al.
Mol Cell Biochem 2008 Apr

Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region
Lovkvist H, et al.
Eur J Hum Genet 2008 Apr

15-Lipoxygenase gene variants are associated with carotid plaque but not carotid  intima-media thickness
McCaskie PA, et al.
Hum Genet 2008 Apr

Osteopontin Promoter Polymorphism Is Associated With Increased Carotid Intima-Media Thickness
de Las Fuentes L, et al.
J Am Soc Echocardiogr 2008 Apr

Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease-2 with chronic severe aortic regurgitation of rheumatic etiology
Ramasawmy R, et al.
Clin Vaccine Immunol 2008 Apr

Candidate genes of the 5-lipoxygenase pathway in acute coronary syndrome: a pilot study
Wung SF & Aouizerat BE
Biol Res Nurs 2008 Apr;9(4):280-92

Effect of polymorphisms of endothelial nitric oxide synthase on ischemic stroke:  A case-control study in a Chinese population
Cheng J, et al.
Clin Chim Acta 2008 Mar

Association of common polymorphisms in GLUT9 gene with gout but not with coronary artery disease in a large case-control study
Stark K, et al.
PLoS ONE 2008;3(4):e1948

 

Diseases of the Respiratory System

Association of corticotropin-releasing hormone receptor-2 genetic variants with acute bronchodilator response in asthma
Poon AH, et al.
Pharmacogenet Genomics 2008 May;18(5):373-82

Association of beta2-adrenoreceptor genotypes with bronchodilatory effect of tiotropium in COPD
Umeda N, et al.
Respirology 2008 May;13(3):346-52

Environmental Tobacco Smoke and Interleukin 4 Polymorphism (C-589T) Gene: Environment Interaction Increases Risk of Wheezing in African-American Infants
Smith AM, et al.
J Pediatr 2008 May;152(5):709-15

Association between C-589T polymorphisms of interleukin-4 gene promoter and asthma: A meta-analysis
Li Y, et al.
Respir Med 2008 Apr

Filaggrin mutations, atopic eczema, hay fever, and asthma in children
Weidinger S, et al.
J Allergy Clin Immunol 2008 Apr

A polymorphism controlling ORMDL3 expression is associated with asthma that is poorly controlled by current medications
Tavendale R, et al.
J Allergy Clin Immunol 2008 Apr;121(4):860-3

Common functional polymorphisms in the cathepsin S promoter in Japanese subjects: Possible contribution to pulmonary emphysema
Minematsu N, et al.
Respirology 2008 Apr

Regulatory region polymorphisms of vitamin D receptor gene in pulmonary tuberculosis patients and normal healthy subjects of south india
Selvaraj P, et al.
Int J Immunogenet 2008 Apr

 

Diseases of the Digestive System

Association of interferon regulatory factor -7 gene polymorphism with liver cirrhosis in chronic hepatitis C patients
Sermasathanasawadi R, et al.
Liver Int 2008 Apr

Vitamin D receptor polymorphism (-1056 Taq-I) interacts with smoking for the presence and progression of periodontitis
Nibali L, et al.
J Clin Periodontol 2008 Apr

Single nucleotide polymorphisms in human Paneth cell defensin A5 may confer susceptibility to inflammatory bowel disease in a New Zealand Caucasian population
Ferguson LR, et al.
Dig Liver Dis 2008 Apr

Interaction between seroreactivity to microbial antigens and genetics in Crohn's  disease: is there a role for defensins?
Lakatos PL, et al.
Tissue Antigens 2008 Apr

Polymorphisms of the ICAM-1 Gene Are Associated with Biliary Atresia
Arikan C, et al.
Dig Dis Sci 2008 Apr

SPINK1, ADH2, and ALDH2 gene variants and alcoholic chronic pancreatitis in Japan
Shimosegawa T, et al.
J Gastroenterol Hepatol 2008 Mar;23 Suppl 1:S82-6

Association analysis among polymorphisms of the various genes and chronic alcoholic pancreatitis
Maruyama K, et al.
J Gastroenterol Hepatol 2008 Mar;23 Suppl 1:S69-72

 

Diseases of the Genitourinary System

Mutation Screening and Association Study of the TSSK4 Gene in Chinese Infertile Men with Impaired Spermatogenesis
Su D, et al.
J Androl 2008 Apr

Endothelial nitric oxide synthase gene haplotypes and diabetic nephropathy among  Asian Indians
Ahluwalia TS, et al.
Mol Cell Biochem 2008 Apr

Association between cytokine gene polymorphisms and outcomes in renal transplantation: a meta-analysis of individual patient data
Thakkinstian A, et al.
Nephrol Dial Transplant 2008 Apr

 

Complications of Pregnancy, Childbirth, and the Puerperium

Tumor necrosis factor alpha and lymphotoxin alpha haplotypes in idiopathic recurrent pregnancy loss
Zammiti W, et al.
Fertil Steril 2008 Apr

 

Diseases of the Skin and Subcutaneous Tissue

Polymorphisms in the interleukin 13 and GATA binding protein 3 genes and the development of eczema during childhood
Arshad SH, et al.
Br J Dermatol 2008 Apr

 

Diseases of the Musculoskeletal System and Connective Tissue

A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese patients
Shimane K, et al.
Ann Rheum Dis 2008 Apr

Interleukin-10 promoter polymorphisms in patients with systemic lupus erythematosus from the Canary Islands
Rosado S, et al.
Int J Immunogenet 2008 Apr

Radiographic osteoarthritis at three joint sites and FRZB, LRP5, and LRP6 polymorphisms in two population-based cohorts
Kerkhof JM, et al.
Osteoarthritis Cartilage 2008 Apr

Effect of interleukin-6 and calcium sensing receptor gene polymorphisms on bone  mass accrual in Chinese adolescent girls
Li X, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Apr;25(2):136-40

 

Symptoms, Signs and Ill-defined Conditions

Identification of ten loci associated with height highlights new biological pathways in human growth
Lettre G, et al.
Nat Genet 2008 Apr

Association of progesterone receptor polymorphisms with recurrent implantation failure after in vitro fertilization and embryo transfer
Coulam CB, et al.
J Assist Reprod Genet 2008 Apr

 

Injury and Poisoning

Chromosomal aberrations in tire plant workers and interaction with polymorphisms  of biotransformation and DNA repair genes
Musak L, et al.
Mutat Res 2008 Mar

 

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Page last reviewed: April 17, 2008 (archived document)
Content Source: National Office of Public Health Genomics