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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 21, 2008
Volume 20, No. 8

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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.

Infectious and Parasitic Diseases

Impact of CYP2B6 983T>C polymorphism on non-nucleoside reverse transcriptase inhibitor plasma concentrations in HIV-infected patients
Wyen C, et al.
J Antimicrob Chemother 2008 Feb

Polymorphisms in Toll-Like Receptor Genes and Susceptibility to Pulmonary Aspergillosis
Carvalho A, et al.
J Infect Dis 2008 Feb;197(4):618-21

A STAT6 gene polymorphism is associated with high infection levels in urinary schistosomiasis
He H, et al.
Genes Immun 2008 Feb

Frequency of the HFE C282Y and H63D polymorphisms in Brazilian malaria patients and blood donors from the Amazon region
Torres FR, et al.
Genet Mol Res 2008;7(1):60-4

Natural clearance of hepatitis C virus in hemophilia patients
Simanis R, et al.
Medicina (Kaunas) 2008;44(1):15-21

 

Neoplasms

Single Nucleotide Polymorphisms in the Hypoxia-inducible Factor-1alpha (HIF-1alpha) Gene in Human Sporadic Breast Cancer
Apaydin I, et al.
Arch Med Res 2008 Apr;39(3):338-45

Serum chemokine levels in Hodgkin lymphoma patients: highly increased levels of CCL17 and CCL22
Niens M, et al.
Br J Haematol 2008 Mar;140(5):527-36

Etiologic value of p53 mutation spectra and differences with histology in lung cancers
Shimmyo T, et al.
Cancer Sci 2008 Feb;99(2):287-95

Epidermal growth factor receptor mutation, but not sex and smoking, is independently associated with favorable prognosis of gefitinib-treated patients with lung adenocarcinoma
Toyooka S, et al.
Cancer Sci 2008 Feb;99(2):303-8

Inherited variation in the androgen pathway is associated with the efficacy of androgen-deprivation therapy in men with prostate cancer
Ross RW, et al.
J Clin Oncol 2008 Feb;26(6):842-7

Interleukin-1B (IL1B) and interleukin-6 (IL6) gene polymorphisms are associated with risk of chronic lymphocytic leukaemia
Ennas MG, et al.
Hematol Oncol 2008 Feb

Effects of common germ-line genetic variation in cell cycle genes on ovarian cancer survival
Song H, et al.
Clin Cancer Res 2008 Feb;14(4):1090-5

UGT1A7 haplotype is associated with an increased risk of hepatocellular carcinoma in hepatitis B carriers
Kong SY, et al.
Cancer Sci 2008 Feb;99(2):340-4

ESR1 and EGF genetic variation in relation to breast cancer risk and survival
Einarsdottir K, et al.
Breast Cancer Res 2008 Feb;10(1):R15

DNA Repair Gene hOGG1 Codon 326 and XRCC1 Codon 399 Polymorphisms and Bladder Cancer Risk in a Japanese Population
Arizono K, et al.
Jpn J Clin Oncol 2008 Feb

Estrogen-biosynthesis Gene CYP17 and Its Interactions with Reproductive, Hormonal and Lifestyle Factors in Breast Cancer Risk: Results from the Long Island Breast  Cancer Study Project
Chen Y, et al.
Carcinogenesis 2008 Feb

Gene expression polymorphisms of interleukins-1beta, -4, -6, -8, -10, and tumor necrosis factors-alpha, -beta: regression analysis of their effect upon oral squamous cell carcinoma
Vairaktaris E, et al.
J Cancer Res Clin Oncol 2008 Feb

Association of a missense single nucleotide polymorphism, Cys1367Arg of the WRN gene, with the risk of bone and soft tissue sarcomas in Japan
Nakayama R, et al.
Cancer Sci 2008 Feb;99(2):333-9

Association between genetic polymorphisms of the base excision repair gene MUTYH  and increased colorectal cancer risk in a Japanese population
Tao H, et al.
Cancer Sci 2008 Feb;99(2):355-60

A single nucleotide polymorphism in the matrix metalloproteinase-1 and interleukin-8 gene promoter predicts poor prognosis in tongue cancer
Shimizu Y, et al.
Auris Nasus Larynx 2008 Feb

Comprehensive Analysis of DNA Repair Gene Variants and Risk of Meningioma
Bethke L, et al.
J Natl Cancer Inst 2008 Feb

Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility
Osorio A, et al.
Breast Cancer Res Treat 2008 Feb

Association of Genetic Variation in the Transforming Growth Factor {beta}-1 Gene  with Serum Levels and Risk of Colorectal Neoplasia
Saltzman BS, et al.
Cancer Res 2008 Feb;68(4):1236-44

Glutathione S-Transferase M1 (GSTM1) Polymorphisms and Lung Cancer: A Literature-based Systematic HuGE Review and Meta-Analysis
Carlsten C, et al.
Am J Epidemiol 2008 Feb

Hepatitis B virus infection contributes to oxidative stress in a population exposed to aflatoxin B1 and high-risk for hepatocellular carcinoma
Liu ZM, et al.
Cancer Lett 2008 Feb

Influence of p53 codon 72 exon 4, GSTM1, GSTT1 and GSTP1*B polymorphisms in lung  cancer risk in a Brazilian population
Honma HN, et al.
Lung Cancer 2008 Feb

Multicentre prospective phase II trial of gefitinib for advanced non-small cell lung cancer with epidermal growth factor receptor mutations: results of the West  Japan Thoracic Oncology Group trial (WJTOG0403)
Tamura K, et al.
Br J Cancer 2008 Feb

Mutation analysis of the MDM4 gene in German breast cancer patients
Reincke S, et al.
BMC Cancer 2008 Feb;8(1):52

Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers
Cybulski C, et al.
Carcinogenesis 2008 Feb

MDM2 SNP309 G allele increases risk but the T allele is associated with earlier onset-age of sporadic breast cancers in the Chinese population
San Lum S, et al.
Carcinogenesis 2008 Feb

VEGF polymorphisms and survival in early-stage non-small-cell lung cancer
Heist RS, et al.
J Clin Oncol 2008 Feb;26(6):856-62

 

Endocrine, Nutritional and Metabolic Diseases

MTHFR gene polymorphism is susceptible to diabetic retinopathy but not to diabetic nephropathy in Japanese type 2 diabetic patients
Maeda M, et al.
J Diabetes Complications 2008 Mar-2008 Apr;22(2):119-25

Type 2 diabetes susceptibility genes on chromosome 1q21-24
Hasstedt SJ, et al.
Ann Hum Genet 2008 Mar;72(Pt 2):163-9

Angiotensin-converting enzyme gene polymorphism is correlated to diabetic retinopathy: a meta-analysis
Wiwanitkit V
J Diabetes Complications 2008 Mar-2008 Apr;22(2):144-6

The -1535 Promoter Variant of the Visfatin Gene is Associated with Serum Triglyceride and HDL-cholesterol Levels in Japanese Subjects
Tokunaga A, et al.
Endocr J 2008 Feb

PAI-1 gene 4G/5G polymorphism, cytokine levels and their relations with metabolic parameters in obese children
Kinik ST, et al.
Thromb Haemost 2008 Feb;99(2):352-6

Association of vitamin D receptor gene 3'-variants with Hashimoto's thyroiditis in the Croatian population
Stefanic M, et al.
Int J Immunogenet 2008 Feb

Epigenetic regulation of PPARGC1A in human type 2 diabetic islets and effect on insulin secretion
Ling C, et al.
Diabetologia 2008 Feb

Potential association of INSIG2 rs7566605 polymorphism with body weight in a Chinese subpopulation
Yang L, et al.
Eur J Hum Genet 2008 Feb

Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations
Lukasova P, et al.
Physiol Res 2008 Feb

Neuromedin beta: P73T polymorphism in overweight and obese subjects
Spalova J, et al.
Physiol Res 2008 Feb

Cord blood islet autoantibodies and seasonal association with the type 1 diabetes high-risk genotype
Lynch KF, et al.
J Perinatol 2008 Feb

Adaptations to Climate in Candidate Genes for Common Metabolic Disorders
Hancock AM, et al.
PLoS Genet 2008 Feb;4(2):e32

PPARgamma2 Pro12Ala polymorphism in relation to free fatty acids concentration and composition in lean healthy Czech individuals with and without family history of diabetes type 2
Bendlova B, et al.
Physiol Res 2008 Feb

Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: The Atherosclerosis Risk in Communities (ARIC) Study
Chamberlain AM, et al.
Atherosclerosis 2008 Feb

Plasma homocysteine concentrations and the single nucleotide polymorphisms in the methionine synthase gene (MTR 2756A>G): Associations with the polycystic ovary syndrome An observational study
Palep-Singh M, et al.
Eur J Obstet Gynecol Reprod Biol 2008 Feb

The influence of polymorphism of -493G/T MTP gene promoter and metabolic syndrome on lipids, fatty acids and oxidative stress
Zak A, et al.
J Nutr Biochem 2008 Feb

Polymorphisms in the promoter region of the basic fibroblast growth factor gene and proliferative diabetic retinopathy in Caucasians with type 2 diabetes
Petrovic MG, et al.
Clin Experiment Ophthalmol 2008 Feb

HLA DRB1, DQB1 and insulin promoter VNTR polymorphisms: interactions and the association with adult-onset diabetes mellitus in Czech patients
Cejkova P, et al.
Int J Immunogenet 2008 Feb

 

Diseases of the Blood & Blood-Forming Organ Disorders

Serotonin transporter polymorphism and bleeding time during SSRI therapy
Hougardy DM, et al.
Br J Clin Pharmacol 2008 Feb

Post-prandial iron absorption in humans: Comparison between HFE genotypes and iron deficiency anaemia
Hutchinson C, et al.
Clin Nutr 2008 Feb

Distinct HLA Class II Associations with Vaso-occlusion in Children with Sickle Cell Disease
Mahdi N, et al.
Clin Vaccine Immunol 2008 Feb

 

Mental Disorders

Association between the nociceptin receptor gene (OPRL1) single nucleotide polymorphisms and alcohol dependence
Huang J, et al.
Addict Biol 2008 Mar;13(1):88-94

Significant association of the neurexin 1 gene (NRXN1) with nicotine dependence in European and African American smokers
Nussbaum J, et al.
Hum Mol Genet 2008 Feb

A family- and population-based study of the UFD1L gene for schizophrenia
Xie L, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Feb

Catechol-O-methyltransferase (COMT) gene variants: Possible association of the Val158Met variant with opiate addiction in hispanic women
Oosterhuis BE, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Feb

Failure to replicate the association between NRG1 and schizophrenia using Japanese large sample
Ikeda M, et al.
Schizophr Res 2008 Feb

Chitinase-3-Like 1 (CHI3L1) Gene and Schizophrenia: Genetic Association and a Potential Functional Mechanism
Yang MS, et al.
Biol Psychiatry 2008 Feb

 

Diseases of the Nervous System and Sense Organs

Genetic analyses of Roundabout (ROBO) axon guidance receptors in autism
Anitha A, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Feb

Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's disease
Sharma M, et al.
Neurobiol Aging 2008 Feb

GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects
Guo YF, et al.
Acta Otolaryngol 2008 Feb;128(3):297-303

Association study between interleukin 1beta gene and epileptic disorders: a HuGe  review and meta-analysis
Kauffman MA, et al.
Genet Med 2008 Feb;10(2):83-8

 

Diseases of the Circulatory System

The -374T/A RAGE Polymorphism Protects Against Future Cardiac Events in Nondiabetic Patients with Coronary Artery Disease
Falcone C, et al.
Arch Med Res 2008 Apr;39(3):320-5

Interleukin-6-572C>G polymorphism-association with inflammatory variables in Korean men with coronary artery disease
Jang Y, et al.
Transl Res 2008 Mar;151(3):154-61

Association Analysis of Allelic Variants of USF1 in Coronary Atherosclerosis
Kristiansson K, et al.
Arterioscler Thromb Vasc Biol 2008 Feb

Factors Associated with Paraoxonase Genotypes and Activity in a Diverse, Young, Healthy Population: The Coronary Artery Risk Development in Young Adults (CARDIA) Study
Thyagarajan B, et al.
Clin Chem 2008 Feb

The association of myeloperoxidase promoter polymorphism with carotid atherosclerosis is abolished in patients with type 2 diabetes
Makela R, et al.
Clin Biochem 2008 Feb

Comparison of serum levels of inflammatory markers and allelic variant of interleukin-6 in patients with acute coronary syndrome and stable angina pectoris
Ozdemir O, et al.
Coron Artery Dis 2008 Feb;19(1):15-9

Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure
Zakrzewski-Jakubiak M, et al.
Br J Clin Pharmacol 2008 Feb

Promotor Polymorphisms in Leukotriene C4 Synthase and Risk of Ischemic Cerebrovascular Disease
Freiberg JJ, et al.
Arterioscler Thromb Vasc Biol 2008 Feb

Application of machine learning algorithms to predict coronary artery calcification with a sibship-based design
Sun YV, et al.
Genet Epidemiol 2008 Feb

Associations between common fibrinogen gene polymorphisms and cardiovascular disease in older adults. The Cardiovascular Health Study
Carty CL, et al.
Thromb Haemost 2008 Feb;99(2):388-95

Platelet glycoprotein Ibalpha gene polymorphism and massive or submassive pulmonary embolism
Soylu A, et al.
J Thromb Thrombolysis 2008 Feb

Apolipoprotein A5 gene C56G variant confers risk for the development of large-vessel associated ischemic stroke
Maasz A, et al.
J Neurol 2008 Feb

A Rapid-ACCE review of CYP2C9 and VKORC1 alleles testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding
McClain MR, et al.
Genet Med 2008 Feb;10(2):89-98

Association study of aromatase gene (CYP19A1) in essential hypertension
Shimodaira M, et al.
Int J Med Sci 2008;5(1):29-35

 

Diseases of the Respiratory System

Associations of FcepsilonRIbeta E237G polymorphism with wheezing in Taiwanese schoolchildren
Lee YL, et al.
Clin Exp Allergy 2008 Mar;38(3):413-20

 

Diseases of the Digestive System

Association between interleukin-6 promoter haplotypes and aggressive periodontitis
Nibali L, et al.
J Clin Periodontol 2008 Mar;35(3):193-8

Study of celiac disease in the pediatric population of Cantabria (Spain) and first-degree relatives
Diaz de Entresotos Villazan L, et al.
Gastroenterol Hepatol 2008 Feb;31(2):53-8

Interleukin-1 family polymorphisms in aggressive periodontitis patients and their relatives
Ren XY, et al.
Beijing Da Xue Xue Bao 2008 Feb;40(1):28-33

Association of SLC22A4/5 Polymorphisms with Steroid Responsiveness of Inflammatory Bowel Disease in Japan
Nakahara S, et al.
Dis Colon Rectum 2008 Feb

 

Diseases of the Genitourinary System

RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec
Yang Y, et al.
Hum Mutat 2008 Feb

Progesterone receptor +331G/A polymorphism in endometriosis and deep-infiltrating endometriosis
Gentilini D, et al.
Fertil Steril 2008 Feb

Gain of function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation
Suzuki Y, et al.
Hum Mol Genet 2008 Feb

A Promoter Polymorphism of the Alpha 8 Integrin Gene and the Progression of Autosomal-Dominant Polycystic Kidney Disease
Zeltner R, et al.
Nephron Clin Pract 2008 Feb;108(3):c169-c175

Association of tumor necrosis factor-{alpha} gene polymorphisms with advanced stage endometriosis
Lee GH, et al.
Hum Reprod 2008 Feb

 

Complications of Pregnancy, Childbirth, and the Puerperium

Genetic Risk Factors for Placental Abruption: A HuGE Review and Meta-Analysis
Zdoukopoulos N & Zintzaras E
Epidemiology 2008 Mar;19(2):309-23

Recurrent pregnancy loss and frequency of eight antiphospholipid antibodies and genetic thrombophilic factors in czech women
Subrt I, et al.
Am J Reprod Immunol 2008 Mar;59(3):193-200

Interleukin-6 (IL-6) and receptor (IL6-R) gene haplotypes associate with amniotic fluid protein concentrations in preterm birth
Velez DR, et al.
Hum Mol Genet 2008 Feb

Single nucleotide polymorphisms in the human progesterone receptor gene and spontaneous preterm birth
Guoyang Luo, et al.
Reprod Sci 2008 Feb;15(2):147-55

 

Diseases of the Skin and Subcutaneous Tissue

The Arg160Trp Allele of Melanocortin-1 Receptor Gene Might Protect Against Vitiligo
Szell M, et al.
Photochem Photobiol 2008 Feb

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of LILRA2 (ILT1, LIR7) splice site polymorphism with systemic lupus erythematosus and microscopic polyangiitis
Mamegano K, et al.
Genes Immun 2008 Feb

Polymorphic Markers of the Fibrillin-1 Gene and Systemic Sclerosis in European Caucasian Patients
Wipff J, et al.
J Rheumatol 2008 Feb

Share epitope, citrullinated cyclic Peptide antibodies and smoking in brazilian rheumatoid arthritis patients
Oliveira RD, et al.
Clin Rev Allergy Immunol 2008 Feb;34(1):32-5

Are Thymidylate synthase and Methylene tetrahydrofolate reductase genes linked with methotrexate response (efficacy, toxicity) in Indian (Asian) rheumatoid arthritis patients?
Ghodke Y, et al.
Clin Rheumatol 2008 Feb

Genetic variation in the PTH pathway and bone phenotypes in elderly women: Evaluation of PTH, PTHLH, PTHR1 and PTHR2 genes
Tenne M, et al.
Bone 2007 Dec

 

Congenital Anomalies

Lack of Association Between Down Syndrome and Polymorphisms in Dopamine Receptor  D4 and Serotonin Transporter Genes
Das Bhowmik A, et al.
Neurochem Res 2008 Feb

Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease
Teitcher M, et al.
Genetica 2008 Feb

Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway
Jugessur A, et al.
Genet Epidemiol 2008 Feb

Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil
Biselli JM, et al.
Genet Mol Res 2008;7(1):33-42

 

Certain Conditions Originating in the Perinatal Period

Apolipoprotein E e4 and its prevalence in early childhood death due to sudden infant death syndrome or to recognised causes
Becher JC, et al.
Early Hum Dev 2008 Feb

 

Injury and Poisoning

Assessment of How Pregnancy Modifies Plasma Lead and Plasma/Whole Blood Lead Ratio in ALAD 1-1 Genotype Women
Montenegro MF, et al.
Basic Clin Pharmacol Toxicol 2008 Feb

 

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Page last reviewed: February 21, 2008 (archived document)
Content Source: National Office of Public Health Genomics