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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
June 15, 2006
Volume 16, No. 24

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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

Polymorphism of CYP1A1 gene Msp I site in the Mongolian and Han nationality populations of Inner Mongolia of China
Chang F & Hu T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):333-4

Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations
Bagheri M, et al.
Transfus Med 2006 Jun;16(3):192-9

Mutation screening of RET proto-oncogene in Chinese sporadic patients with pheochromocytoma
Han Z, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):320-2

Allelic polymorphism analysis of killer cell immunoglobulin-like receptor gene 3DL2 in Zhejiang Han population
Jiang K, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):339-42

Distribution of MIF -173 single nucleotide polymorphism checked by tetra-primer amplification refractory mutation system
Fei B, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):343-5

Polymorphism distribution of HLA-DRB1 gene locus in Han race population in Liaoning of China
Qu Z, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):349-51

CYP3A phenotypes and genotypes in North Indians
Rais N, et al.
Eur J Clin Pharmacol 2006 Jun;62(6):417-22

Frequencies of single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in a Finnish population
Pasanen MK, et al.
Eur J Clin Pharmacol 2006 Jun;62(6):409-15

 

Infectious and Parasitic Diseases

CYP2E1 genotype and isoniazid-induced hepatotoxicity in patients treated for latent tuberculosis
Vuilleumier N, et al.
Eur J Clin Pharmacol 2006 Jun;62(6):423-9

Reduced ability of newborns to produce CCL3 is associated with increased susceptibility to perinatal human immunodeficiency virus 1 transmission
Meddows-Taylor S, et al.
J Gen Virol 2006 Jul;87(Pt 7):2055-65

           

 

Neoplasms

Genetic variants in cyclooxygenase-2: expression and risk of gastric cancer and its precursors in a chinese population
Liu F, et al.
Gastroenterology 2006 Jun;130(7):1975-84

The prevalence of germline BRCA1 and BRCA2 mutations in young women with breast cancer undergoing breast-conservation therapy
Golshan M, et al.
Am J Surg 2006 Jul;192(1):58-62

Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland
Steffen J, et al.
Int J Cancer 2006 Jul;119(2):472-5

Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 years
Alsop K, et al.
Eur J Cancer 2006 Jun

ATM polymorphism IVS62+60G>A is not associated with disease aggressiveness in prostate cancer
Browning RE 4th, et al.
Urology 2006 Jun;67(6):1320-3

Association of MMP1 -1607(1G>2G)single nucleotide polymorphism with susceptibility to lung cancer in Northwestern Chinese population of Han nationality
Zhang W, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):313-5

Prediction of response to chemoradiation in rectal cancer by a gene polymorphism in the epidermal growth factor receptor promoter region
Spindler KL, et al.
Int J Radiat Oncol Biol Phys 2006 Jun

The BARD1 Cys557Ser Variant and Breast Cancer Risk in Iceland
Stacey SN, et al.
PLoS Med 2006 Jun;3(7):e217

p53 protein accumulation, cancer multiplicity, and aldehyde dehydrogenase-2 genotype in Japanese alcoholic men with early esophageal squamous cell carcinoma
Yokoyama A, et al.
Cancer Lett 2006 Jun

An association between manganese superoxide dismutase polymorphism and outcome of chemotherapy in acute myeloid leukemia
Koistinen P, et al.
Haematologica 2006 Jun;91(6):829-32

Peroxisome Proliferator-Activated Receptor-gamma Polymorphism, Body Mass and Prostate Cancer Risk: Evidence for Gene-Environment Interaction
Zmuda JM, et al.
Oncology 2006 Jun;70(3):185-9

CHEK2 1100delC mutation is frequent among Russian breast cancer patients
Chekmariova EV, et al.
Breast Cancer Res Treat 2006 Jun

Interaction of genetic polymorphisms in cytochrome P450 2E1 and glutathione S-transferase M1 to breast cancer in Taiwanese woman without smoking and drinking habits
Wu SH, et al.
Breast Cancer Res Treat 2006 Jun

Association of methylenetetrahydrofolate reductase (MTHFR) polymorphisms with genetic susceptibility to gastric cancer: a meta-analysis
Zintzaras E
J Hum Genet 2006 Jun

Estrogen Receptor alpha Polymorphisms Associated With Susceptibility to Hepatocellular Carcinoma in Hepatitis B Virus Carriers
Zhai Y, et al.
Gastroenterology 2006 Jun;130(7):2001-9

High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-Leon (central Spain)
Infante M, et al.
J Hum Genet 2006 Jun

 

Endocrine, Nutritional and Metabolic Diseases

Screening for Pax8 Mutations in Patients with Congenital Hypothyroidism in South-West Germany
Lanzerath K, et al.
Horm Res 2006 Jun;66(2):96-100

Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants
Klos KL, et al.
Arterioscler Thromb Vasc Biol 2006 Jun

Polymorphisms of the CYP1B1 gene may be associated with the onset of natural menopause in Chinese women
Long JR, et al.
Maturitas 2006 Jun

A functional polymorphism in the MAOA gene promoter (MAOA-LPR) predicts central dopamine function and body mass index
Ducci F, et al.
Mol Psychiatry 2006 Jun

Evidence for associations between common polymorphisms of estrogen receptor beta gene with homocysteine and nitric oxide
Reimann M, et al.
Climacteric 2006 Jun;9(3):215-23

[Study on association of CTLA4 gene polymorphism with Graveso disease in Guangxi Zhuang nationality population.]
Liang X, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):306-9

Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations
Bauerfeind A, et al.
Hum Hered 2006 Jun;61(3):123-31

The angiotensin-I converting enzyme I/D polymorphism is not associated with type 2 diabetes in individuals undergoing coronary angiography. (The Ludwigshafen Risk and Cardiovascular Health Study)
Grammer TB, et al.
Mol Genet Metab 2006 Jun

Putative association of peroxisome proliferator-activated receptor gamma co-activator 1beta (PPARGC1B) polymorphism with Type 2 diabetes mellitus
Park KS, et al.
Diabet Med 2006 Jun;23(6):635-42

Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA)
Imboden M, et al.
Clin Mol Allergy 2006 Jun;4(1):9

LEP 3'HVR is associated with obesity and leptin levels in Brazilian individuals
Hinuy HM, et al.
Mol Genet Metab 2006 Jun

The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis
Lee YH, et al.
Rheumatology (Oxford) 2006 Jun

A Birth-Season/DRD4 Gene Interaction Predicts Weight Gain and Obesity in Women with Seasonal Affective Disorder: A Seasonal Thrifty Phenotype Hypothesis
Levitan RD, et al.
Neuropsychopharmacology 2006 Jun

Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Type 2 diabetes in subjects with impaired glucose tolerance in the Finnish Diabetes Prevention Study
Mager U, et al.
Diabet Med 2006 Jun;23(6):685-9

 

Mental Disorders

Heavy nicotine and alcohol use in alcohol dependence is associated with D2 dopamine receptor (DRD2) polymorphism
Connor JP, et al.
Addict Behav 2006 Jun

GABA(A) receptor beta isoform protein expression in human alcoholic brain: interaction with genotype
Buckley ST, et al.
Neurochem Int 2006 Jun

No association between the Clara cell secretory protein (CC16) gene polymorphism and personality traits
Tochigi M, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2006 Jun

A Functional Polymorphism in the Promoter Region of the Monoamine Oxidase A Gene Is Associated with the Cigarette Smoking Quantity in Alcohol-Dependent Heavy Smokers
Wiesbeck GA, et al.
Neuropsychobiology 2006 Jun;53(4):181-5

Dopamine transporter genotype influences the physiological response to medication in ADHD
Gilbert DL, et al.
Brain 2006 Jun

Involvement of a polymorphism in the 5-HT2A receptor gene in impulsive behavior
Nomura M, et al.
Psychopharmacology (Berl) 2006 Jul;187(1):30-5

Gene-environment interaction of the dopamine D4 receptor (DRD4) and observed maternal insensitivity predicting externalizing behavior in preschoolers
Bakermans-Kranenburg MJ & van Ijzendoorn MH
Dev Psychobiol 2006 Jun;48(5):406-9

Seasonality associated with the serotonin 2A receptor -1438 A/G polymorphism
Lee HJ, et al.
J Affect Disord 2006 Jun

Association between the T102C polymorphism of the serotonin-2A receptor gene and schizophrenia
Vaquero Lorenzo C, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2006 Jun

Interaction between serotonin transporter gene, catechol- O -methyltransferase gene and stressful life events in mood disorders
Mandelli L, et al.
Int J Neuropsychopharmacol 2006 Jun:1-11

           

 

Diseases of the Nervous System and Sense Organs

Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease
Hedrich K, et al.
Mov Disord 2006 Jun

Strong association of MuSK antibody-positive myasthenia gravis and HLA-DR14-DQ5
Niks EH, et al.
Neurology 2006 Jun;66(11):1772-4

Polymorphism of Apolipoproteine E in Relation with Alzheimer and Vascular Dementia
Gdovinova Z, et al.
Cell Mol Neurobiol 2006 Jun

Investigation of autism and GABA receptor subunit genes in multiple ethnic groups
Collins AL, et al.
Neurogenetics 2006 Jun

Association of polymorphisms in CTLA-4, IL-1ra and IL-1beta genes with multiple sclerosis in Serbian population
Dincic E, et al.
J Neuroimmunol 2006 Jun

Association of intercellular adhesion molecule 1 polymorphisms with retinopathy in Chinese patients with Type 2 diabetes
Liu L, et al.
Diabet Med 2006 Jun;23(6):643-8

No association of CCR5delta32 gene mutation with multiple sclerosis in Croatian and Slovenian patients
Ristic S, et al.
Mult Scler 2006 Jun;12(3):360-2

Absence of the apolipoprotein E epsilon4 allele is associated with working memory impairment in Parkinson's disease
Troster AI, et al.
J Neurol Sci 2006 Jun

 

Diseases of the Circulatory System

Apolipoprotein E Polymorphisms Predict Low Density Lipoprotein Cholesterol Levels and Carotid Artery Wall Thickness but Not Incident Coronary Heart Disease in 12,491 ARIC Study Participants
Volcik KA, et al.
Am J Epidemiol 2006 Jun

Apolipoprotein av, triglycerides and risk of future coronary artery disease in apparently healthy men and women; the prospective epic-norfolk population study
Vaessen SF, et al.
J Lipid Res 2006 Jun

Association of platelet-activating factor acetylhydrolase gene polymorphism with premature coronary artery disease in Turkish patients
Sekuri C, et al.
Anadolu Kardiyol Derg 2006 Jun;6(2):132-4

The apolipoprotein A-IV Gln360His polymorphism predicts progression of coronary artery calcification in patients with type 1 diabetes
Kretowski A, et al.
Diabetologia 2006 Jun

A related analysis for alpha, beta fibrinogen gene haplotypes and nucleotide polymorphisms associated with the ischemic stroke in Hainan Han population
Liang L, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):316-9

E-selectin S128R polymorphism and severe coronary artery disease in Arabs
Abu-Amero KK, et al.
BMC Med Genet 2006 Jun;7(1):52

Correlativity between the polymorphisms of aldosterone synthase gene, Hind III restriction site on Y chromosome and essential hypertension
Li Q, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):294-7

Factor V Leiden is associated with higher risk of deep venous thrombosis of large blood vessels
Arsov T, et al.
Croat Med J 2006 Jun;47(3):433-9

Relationship between paraoxonase 1 55 Met/Leu, paraoxonase 2 148 Ala/Gly genetic polymorphisms and coronary artery disease
Chi D, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):289-93

Study on novel mutations of MEF2A gene in Chinese patients with coronary artery disease
Li J, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):265-8

Study on linkage between polymorphism of interleukin 6 gene -572C/G and susceptibility to myocardial infarction
Fu H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Jun;23(3):245-9

Estrogen receptor alpha polymorphism and venous thromboembolism in male and female: Data from the EDITH study
Oger E, et al.
Thromb Res 2006 Jun

Association of endothelial nitric oxide synthase gene G894T polymorphism with essential hypertension in an adult Pakistani Pathan population
Khawaja MR, et al.
Int J Cardiol 2006 Jun

Angiotensin-I-converting enzyme (ACE) insertion/deletion polymorphism in Mexican patients with coronary artery disease. Association with the disease but not with lipid levels
Vargas-Alarcon G, et al.
Exp Mol Pathol 2006 Jun

 

Diseases of the Respiratory System

IL-4 receptor genetic polymorphisms and asthma in Asian populations
Zhang W, et al.
Respir Med 2006 Jun

MUC7 Haplotype Analysis: Results from a Longitudinal Birth Cohort Support Protective Effect of the MUC7*5 Allele on Respiratory Function
Rousseau K, et al.
Ann Hum Genet 2006 Jul;70(Pt 4):417-27

 

Diseases of the Digestive System

Is There an Association Between GNbeta3-C825T Genotype and Lower Functional Gastrointestinal Disorders?
Andresen V, et al.
Gastroenterology 2006 Jun;130(7):1985-94

 

Diseases of the Genitourinary System

Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy
Bahr C, et al.
Diabet Med 2006 Jun;23(6):681-4

Aldosterone synthase (CYP11B2) -344T/C polymorphism is not associated with the initiation and progression of diabetic nephropathy in Caucasian Type 1 diabetic patients
Lajer M, et al.
Diabet Med 2006 Jun;23(6):675-80

A microsatellite polymorphism (tttta)n in the promoter of the CYP11a gene in Chinese women with polycystic ovary syndrome
Wang Y, et al.
Fertil Steril 2006 Jun

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK
Tasker PN, et al.
Osteoporos Int 2006 Jul;17(7):1078-85

Vitamin D receptor gene BsmI and TaqI polymorphisms and fracture risk: A meta-analysis
Fang Y, et al.
Bone 2006 Jun

Vitamin D receptor genotype and risk of osteoporotic hip fracture in elderly women of Utah: an effect modified by parity
Wengreen H, et al.
Osteoporos Int 2006 Jun

Association between androgen receptor gene polymorphism and bone density in older women using hormone replacement therapy
Retornaz F, et al.
Maturitas 2006 Jun

 

Congenital Anomalies

CHD7 gene and non-syndromic cleft lip and palate
Felix TM, et al.
Am J Med Genet A 2006 Jun

 

Certain Conditions Originating in the Perinatal Period

Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome
Rand CM, et al.
Am J Med Genet A 2006 Jun

 

Injury and Poisoning

Chronic Beryllium Disease and Glutathione Biosynthesis Genes
Bekris LM, et al.
J Occup Environ Med 2006 Jun;48(6):599-606

Delta-aminolevulinic acid dehydratase (ALAD) polymorphism and the relation between low-level lead exposure and the Mini-Mental Status Examination in older men: the Normative Aging Study
Weuve J, et al.
Occup Environ Med 2006 Jun

 

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Page last updated: November 2, 2007
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