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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
July 3, 2008
Volume 21, No. 1

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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.


Gene Variant Frequency

Asian specific low mutation frequencies of the M287T polymorphism in the human arsenic (+3 oxidation state) methyltransferase (AS3MT) gene
Fujihara J, et al.
Mutat Res 2008 Jun

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients
Piekutowska-Abramczuk D, et al.
Eur J Paediatr Neurol 2008 Jun

[Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population.]
Martinez-Frias ML, et al.
Med Clin (Barc) 2008 Jun;131(3):81-8

Thrombophilic polymorphisms in Israel
Zoossmann-Diskin A, et al.
Blood Cells Mol Dis 2008 Jun

 

Infectious and Parasitic Diseases

The transforming growth factor-beta high-producer genotype is associated with response to hepatitis C virus-specific therapy in HIV-positive patients with acute hepatitis C
Nattermann J, et al.
AIDS 2008 Jul;22(11):1287-92

Mannose-binding Lectin MBL2 Gene Polymorphisms and Outcome of Hepatitis C Virus-infected Patients
Koutsounaki E, et al.
J Clin Immunol 2008 Jul

alpha(+)-Thalassemia Protects against Anemia Associated with Asymptomatic Malaria: Evidence from Community-Based Surveys in Tanzania and Kenya
Veenemans J, et al.
J Infect Dis 2008 Jun

Mannose-binding lectin and mannose-binding lectin-associated serine protease 2 in susceptibility, severity, and outcome of pneumonia in adults
Garcia-Laorden MI, et al.
J Allergy Clin Immunol 2008 Jun

The PTPN22 R620W Polymorphism is Associated With Severe Bacterial Infections After Human Leukocyte Antigen Geno-Identical Haematopoietic Stem-Cell Transplantations
Azarian M, et al.
Transplantation 2008 Jun;85(12):1859-62

 

Neoplasms

Relevance of glutathione S-transferase M1 and cytochrome P450 1A1 genetic polymorphisms to the development of head and neck cancers
Reszka E, et al.
Clin Chem Lab Med 2008 Jul

K-ras Mutation, HPV Infection and Smoking or Alcohol Abuse Positively Correlate with Esophageal Squamous Carcinoma
Lyronis ID, et al.
Pathol Oncol Res 2008 Jul

The Gln/Gln genotype of XPD codon 751 as a genetic marker for melanoma risk and Lys/Gln as an important predictor for melanoma progression: A case control study  in the Swedish population
Kertat K, et al.
Oncol Rep 2008 Jul;20(1):179-83

Clinical implications of the MDM2 SNP309 and p53 Arg72Pro polymorphisms in transitional cell carcinoma of the bladder
Horikawa Y, et al.
Oncol Rep 2008 Jul;20(1):49-55

Association of Single Nucleotide Polymorphisms in SOD2, XRCC1 and XRCC3 with Susceptibility for the Development of Adverse Effects Resulting from Radiotherapy for Prostate Cancer
Burri RJ, et al.
Radiat Res 2008 Jul;170(1):49-59

Combined GSTM1 and GSTT1 null genotypes are associated with a lower risk of papillary thyroid cancer
Lemos MC, et al.
J Endocrinol Invest 2008 Jun;31(6):542-5

[Association of HLA-A, B and DRB1 alleles with leukemia in Han population in Hunan Province.]
Luo QZ, et al.
Nan Fang Yi Ke Da Xue Xue Bao 2008 Jun;28(6):1016-8

Rapid progression of prostate cancer in men with a BRCA2 mutation
Narod SA, et al.
Br J Cancer 2008 Jun

Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions
Yang H, et al.
Eur J Cancer 2008 Jun

FGFR3 Mutations Indicate Better Survival in Invasive Upper Urinary Tract and Bladder Tumours
van Oers JM, et al.
Eur Urol 2008 Jun

Functional vascular endothelial growth factor -2578 C/A polymorphism in relation  to nasopharyngeal carcinoma risk and tumor progression
Nasr HB, et al.
Clin Chim Acta 2008 Jun

Vitamin D receptor variants and breast cancer risk in the Polish population
Gapska P, et al.
Breast Cancer Res Treat 2008 Jun

Peroxisome proliferator-activated receptor-alpha (PPARA) genetic polymorphisms and breast cancer risk: a Long Island ancillary study
Golembesky AK, et al.
Carcinogenesis 2008 Jun

Prognostic role of glutathione S-transferase polymorphisms in acute myeloid leukemia
Voso MT, et al.
Leukemia 2008 Jun

First or Second-Line Therapy With Gefitinib Produces Equal Survival in Non Small  Cell Lung Cancer
Wu JY, et al.
Am J Respir Crit Care Med 2008 Jun

Association of vascular endothelial growth factor gene polymorphisms with susceptibility and clinicopathologic characteristics of colorectal cancer
Chae YS, et al.
J Korean Med Sci 2008 Jun;23(3):421-7

Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/  PPP1R13L/iASPP
Nexo BA, et al.
BMC Med Genet 2008 Jun;9(1):56

Multiple Loci With Different Cancer Specificities Within the 8q24 Gene Desert
Ghoussaini M, et al.
J Natl Cancer Inst 2008 Jun

The Risk of Cancer Progression in Women With Gynecological Malignancies and Thrombophilic Polymorphisms: A Pilot Case-Control Study
Tormene D, et al.
Clin Appl Thromb Hemost 2008 Jun

 

Endocrine, Nutritional and Metabolic Diseases

Associations of Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene Polymorphisms with Susceptibility to Graves' Disease in a Japanese Population
Ichimura M, et al.
Thyroid 2008 Jun;18(6):625-30

Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk
Lango H, et al.
Diabetes 2008 Jun

Obesity-associated genetic variation in FTO is associated with diminished satiety
Wardle J, et al.
J Clin Endocrinol Metab 2008 Jun

Association of CHRNA2 polymorphisms with overweight/obesity and clinical characteristics in a Korean population
Kim J
Clin Chem Lab Med 2008 Jun

Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype
Vilodre LC, et al.
J Endocrinol Invest 2008 Jun;31(6):552-7

Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance
Chen ZC, et al.
J Hum Genet 2008 Jun

The K121Q Polymorphism in ENPP1 (PC-1) Is Not Associated with Type 2 Diabetes or  Obesity in Korean Male Workers
Seo HJ, et al.
J Korean Med Sci 2008 Jun;23(3):459-64

A common non-synonymous single nucleotide polymorphism in the SLC30A8 gene determines ZnT8 autoantibody specificity in type 1 diabetes
Wenzlau JM, et al.
Diabetes 2008 Jun

Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure
Pyun JA, et al.
Fertil Steril 2008 Jun

Evaluating the role of LPIN1 variation on insulin resistance, body weight and human lipodystrophy in UK populations
Fawcett KA, et al.
Diabetes 2008 Jun

Association between C677T/MTHFR genotype and homocysteine concentration in a Kazakh population
Akilzhanova A, et al.
Asia Pac J Clin Nutr 2008;17(2):325-9

 

Mental Disorders

Cannabinoid receptor 1 (CNR1) gene: Impact on antidepressant treatment response and emotion processing in Major Depression
Domschke K, et al.
Eur Neuropsychopharmacol 2008 Jun

TAAR6 variation effect on clinic presentation and outcome in a sample of schizophrenic in-patients: An open label study
Pae CU, et al.
Eur Psychiatry 2008 Jun

The value of interleukin-12B (p40) gene promoter polymorphism in patients with schizophrenia in a region of East Turkey
Ozbey U, et al.
Psychiatry Clin Neurosci 2008 Jun;62(3):307-12

COMT Val(108/158)Met Polymorphism and the Modulation of Task-Oriented Behavior in Children with ADHD
Sengupta S, et al.
Neuropsychopharmacology 2008 Jun

Clinical and molecular-genetic markers of ADHD in children
Drtilkova I, et al.
Neuro Endocrinol Lett 2008 Jun;29(3)

Depression and anxiety in relation to catechol-O-methyltransferase Val158Met genotype in the general population: The Nord-TrAndelag Health Study (HUNT)
Baekken PM, et al.
BMC Psychiatry 2008 Jun;8(1):48

Serum TNF-alpha levels in relation to alcohol consumption and common TNF gene polymorphisms
Gonzalez-Quintela A, et al.
Alcohol 2008 Jun

 

Diseases of the Nervous System and Sense Organs

TNF-alpha gene polymorphism (-308G/A) and toxoplasmic retinochoroiditis
Cordeiro CA, et al.
Br J Ophthalmol 2008 Jul;92(7):986-8

Genetic influence of the nonclassical major histocompatibility complex class I molecule MICB in multiple sclerosis susceptibility
Fernandez-Morera JL, et al.
Tissue Antigens 2008 Jul;72(1):54-9

Endothelin-1 Gene Variant Lys198Asn and Plasma Endothelin Level in Obstructive Sleep Apnea
Diefenbach K, et al.
Cardiology 2008 Jun;112(1):62-8

Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease
Chapuis J, et al.
Hum Mol Genet 2008 Jun

Genetic variation in nitric oxide synthase 2A (NOS2A) and risk for multiple sclerosis
Barcellos LF, et al.
Genes Immun 2008 Jun

Association between PTGS2 polymorphism and autism spectrum disorders in Korean trios
Yoo HJ, et al.
Neurosci Res 2008 Jun

CYP1A1 Ile462Val and GSTT1 modify the effect of cord blood cotinine on neurodevelopment at 2 years of age
Hsieh CJ, et al.
Neurotoxicology 2008 Jun

BACE1 Polymorphisms Do Not Influence Platelet Membrane beta-secretase Activity or Genetic Susceptibility for Alzheimer's Disease in the Northern Irish Population
Todd S, et al.
Neuromolecular Med 2008 Jun

No association between the ryanodine receptor 3 gene and autism in a Japanese population
Tochigi M, et al.
Psychiatry Clin Neurosci 2008 Jun;62(3):341-4

A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk
Dreses-Werringloer U, et al.
Cell 2008 Jun;133(7):1149-61

Association of toll-like receptor 4 gene polymorphisms with normal tension glaucoma
Shibuya E, et al.
Invest Ophthalmol Vis Sci 2008 Jun

 

Diseases of the Circulatory System

Association of apolipoprotein e genotype and cerebrovascular disease risk factors in a Turkish population
Tasdemir N, et al.
Int J Neurosci 2008 Aug;118(8):1109-29

Allelic variants of upstream transcription factor 1 associate with carotid artery intima-media thickness
Collings A, et al.
Circ J 2008 Jul;72(7):1158-64

Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy
Posch MG, et al.
Med Sci Monit 2008 Jul;14(7):CR372-4

Lack of association of genetic variants in the LRP8 gene with familial and sporadic myocardial infarction
Lieb W, et al.
J Mol Med 2008 Jul

Association of the insertion/deletion gene polymorphism of the apolipoprotein B signal peptide with myocardial infarction in Tunisian patients
Kallel A, et al.
Clin Chem Lab Med 2008 Jul

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
Parks SB, et al.
Am Heart J 2008 Jul;156(1):161-9

Coexisting Polymorphisms of P2Y12 and CYP2C19 Genes as a Risk Factor for Persistent Platelet Activation With Clopidogrel
Malek LA, et al.
Circ J 2008 Jul;72(7):1165-9

Apolipoprotein A5 Gene IVS3+G476A Allelic Variant Confers Susceptibility for Development of Ischemic Stroke
Maasz A, et al.
Circ J 2008 Jul;72(7):1065-70

Polymorphisms of the lipoprotein lipase gene are associated with atherosclerotic  cerebral infarction in the Chinese
Xu E, et al.
Neuroscience 2008 Jun

Gender specific association of endothelial nitric oxide synthase gene (Glu298Asp) polymorphism with essential hypertension in a south Indian population
Periaswamy R, et al.
Clin Chim Acta 2008 Jun

Prostasin: A Possible Candidate Gene for Human Hypertension
Zhu H, et al.
Am J Hypertens 2008 Jun

Impact of glutathione s-transferase m1 and t1 gene polymorphisms on the smoking-related coronary artery disease
Kim SJ, et al.
J Korean Med Sci 2008 Jun;23(3):365-72

Genomic Association Analysis Suggests Chromosome 12 Locus Influencing Antihypertensive Response to Thiazide Diuretic
Turner ST, et al.
Hypertension 2008 Jun

Physiological Interaction Between {alpha}-Adducin and WNK1-NEDD4L Pathways on Sodium-Related Blood Pressure Regulation
Manunta P, et al.
Hypertension 2008 Jun

Gender-specific effect of estrogen receptor-1 gene polymorphisms in coronary artery disease and its angiographic severity in Chinese population
Xu H, et al.
Clin Chim Acta 2008 Jun

Angiotensin-converting enzyme insertion/deletion polymorphism and the risk of ischemic stroke in a South Indian population
Munshi A, et al.
J Neurol Sci 2008 Jun

 

Diseases of the Respiratory System

Polymorphisms in interleukin-1B and its receptor antagonist genes and the risk of chronic obstructive pulmonary disease in a Korean population: a case-control study
Lee JM, et al.
Respir Med 2008 Jun

 

Diseases of the Digestive System

Polymorphisms of the TNF, CD14, and HSPA1B genes in patients with acute alcohol-induced pancreatitis
Tukiainen E, et al.
Pancreas 2008 Jul;37(1):56-61

Predictors of Family Risk for Celiac Disease: A Population-Based Study
Rubio-Tapia A, et al.
Clin Gastroenterol Hepatol 2008 Jun

Genetic Polymorphisms of Cyclooxygenase-1 (COX-1) Are Associated with Functional  Dyspepsia in Japanese Women
Arisawa T, et al.
J Womens Health (Larchmt) 2008 Jun

Polymorphism in the promoter region of the gene for 5-HTT in individuals with aggressive periodontitis
Costa JE, et al.
J Oral Sci 2008 Jun;50(2):193-8

CTLA-4 gene polymorphisms predispose to autoimmune endocrinopathies but not to celiac disease
Dallos T, et al.
Neuro Endocrinol Lett 2008 Jun;29(3)

Interleukin-1 and tumor necrosis factor-alpha gene polymorphisms in Turkish patients with localized aggressive periodontitis
Guzeldemir E, et al.
J Oral Sci 2008 Jun;50(2):151-9

Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort
Roberts RL, et al.
Genes Immun 2008 Jun

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
Barrett JC, et al.
Nat Genet 2008 Jun

 

Diseases of the Genitourinary System

No association between single nucleotide polymorphisms and the development of nephrotoxicity after orthotopic heart transplantation
Klauke B, et al.
J Heart Lung Transplant 2008 Jul;27(7):741-5

HLA Polymorphisms as Incidence Factor in the Progression to End-Stage Renal Disease in Brazilian Patients Awaiting Kidney Transplant
Crispim JC, et al.
Transplant Proc 2008 Jun;40(5):1333-6

Genetic variations in soluble epoxide hydrolase and graft function in kidney transplantation
Lee SH, et al.
Transplant Proc 2008 Jun;40(5):1353-6

Association Analysis of the Ephrin-B2 Gene in African-Americans with End-Stage Renal Disease
Hicks PJ, et al.
Am J Nephrol 2008 Jun;28(6):914-20

Molecular Genetic Analysis of Interleukin-1 Promoter and Receptor Antagonist Tandem Repeat Polymorphisms Among HLA-Identical Renal Transplant Recipient and Donor Pairs
Jin Y
Transplant Proc 2008 Jun;40(5):1329-32

 

Complications of Pregnancy, Childbirth, and the Puerperium

ACE and MTHFR gene polymorphisms in unexplained recurrent pregnancy loss
Vettriselvi V, et al.
J Obstet Gynaecol Res 2008 Jun;34(3):301-6

 

Diseases of the Skin and Subcutaneous Tissue

Combined effects of HLA-Cw6, body mass index and waist-hip ratio on psoriasis vulgaris in Chinese Han population
Jin Y, et al.
J Dermatol Sci 2008 Jun

Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure
Bisgaard H, et al.
PLoS Med 2008 Jun;5(6):e131

 

Diseases of the Musculoskeletal System and Connective Tissue

A broad analysis of IL1 polymorphism and rheumatoid arthritis
Johnsen AK, et al.
Arthritis Rheum 2008 Jun;58(7):1947-57

Ability of epistatic interactions of cytokine single-nucleotide polymorphisms to  predict susceptibility to disease subsets in systemic sclerosis patients
Beretta L, et al.
Arthritis Rheum 2008 Jun;59(7):974-83

Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis
Prahalad S, et al.
Arthritis Rheum 2008 Jun;58(7):2147-52

Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population
Kobayashi S, et al.
Arthritis Rheum 2008 Jun;58(7):1940-6

Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis
Day TG, et al.
Arthritis Rheum 2008 Jun;58(7):2142-6

Association of IL-10 receptor 2 (IL10RB) SNP with systemic sclerosis
Hikami K, et al.
Biochem Biophys Res Commun 2008 Jun

Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis
Tran BN, et al.
BMC Med Genet 2008 Jun;9(1):55

Association of autoimmunity to peptidyl arginine deiminase type 4 with genotype and disease severity in rheumatoid arthritis
Harris ML, et al.
Arthritis Rheum 2008 Jun;58(7):1958-67

Association of STAT4 with rheumatoid arthritis: A replication study in three European populations
Orozco G, et al.
Arthritis Rheum 2008 Jun;58(7):1974-80

 

Congenital Anomalies

Folate intake, markers of folate status and oral clefts: is the evidence converging?
Johnson CY & Little J
Int J Epidemiol 2008 Jun

 

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Page last reviewed: July 3, 2008 (archived document)
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