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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
October 12, 2006
Volume 17, No. 15

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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

Systematic analysis of sequence variability of the endothelin-1 gene: a prerequisite for association studies
Diefenbach K, et al.
Genet Test 2006 Fall;10(3):163-8

Class II HLA allele polymorphism: DRB1, DQB1 and DPB1 alleles and haplotypes in the New Zealand Maori population
Tracey MC & Carter JM
Tissue Antigens 2006 Oct;68(4):297-302

 

Infectious and Parasitic Diseases

Association of interleukin-1 receptor antagonist gene polymorphism and susceptibility to human brucellosis
Hajilooi M, et al.
Tissue Antigens 2006 Oct;68(4):331-4

 

Neoplasms

The association of polymorphisms of CDT1 and GMNN gene with the risk of breast cancer in Chinese women: a case-control analysis
Gao J, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Oct;23(5):544-7

Plasma levels of basic fibroblast growth factor and vascular endothelial growth factor and their association with IgVH mutation status in patients with B-cell chronic lymphocytic leukemia
Smolej L, et al.
Haematologica 2006 Oct;91(10):1432-3

ERCC4 Associated with Breast Cancer Risk: A Two-Stage Case-Control Study Using High-throughput Genotyping
Milne RL, et al.
Cancer Res 2006 Oct;66(19):9420-7

Common genetic variants in proinflammatory and other immunoregulatory genes and risk for non-hodgkin lymphoma
Wang SS, et al.
Cancer Res 2006 Oct;66(19):9771-80

Comprehensive assessment of genetic variation of catechol-o-methyltransferase and breast cancer risk
Gaudet MM, et al.
Cancer Res 2006 Oct;66(19):9781-5

Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium
Breast Cancer Association Consortium
J Natl Cancer Inst 2006 Oct;98(19):1382-96

Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India
Saxena S, et al.
BMC Med Genet 2006 Oct;7(1):75

Polymorphisms in GSTT1, GSTM1, NAT1 and NAT2 genes and bladder cancer risk in men and women
McGrath M, et al.
BMC Cancer 2006 Oct;6(1):239

Pharmacogenetic Screening of CYP3A and ABCB1 in Relation to Population Pharmacokinetics of Docetaxel
Bosch TM, et al.
Clin Cancer Res 2006 Oct;12(19):5786-93

Association between the Polymorphism of the Angiotensin-Converting Enzyme Gene and Tumor Size of Breast Cancer in Premenopausal Patients
Yaren A, et al.
Tohoku J Exp Med 2006 Oct;210(2):109-16

The GNAS1 T393C Polymorphism Is Associated with Disease Progression and Survival in Chronic Lymphocytic Leukemia
Frey UH, et al.
Clin Cancer Res 2006 Oct;12(19):5686-92

RNASEL Gene Polymorphisms and the Risk of Prostate Cancer: a Meta-analysis
Li H & Tai BC
Clin Cancer Res 2006 Oct;12(19):5713-9

A common genetic variant in XPD associates with risk of 5q and 7q deleted acute myeloid leukemia
Smith AG, et al.
Blood 2006 Oct

Common polymorphism in interleukin 6 influences survival of women with ovarian and peritoneal carcinoma
Garg R, et al.
Gynecol Oncol 2006 Oct

BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50
Haile RW, et al.
Cancer Epidemiol Biomarkers Prev 2006 Oct

 

Endocrine, Nutritional and Metabolic Diseases

Glutathione-S-Transferase M1 and P1 Prevent Aggravation of Allergic Responses by Secondhand Smoke
Gilliland FD, et al.
Am J Respir Crit Care Med 2006 Oct

AIP variants in sporadic pituitary adenomas
Yu R, et al.
J Clin Endocrinol Metab 2006 Oct

Combining Information from Common Type 2 Diabetes Risk Polymorphisms Improves Disease Prediction
Weedon MN, et al.
PLoS Med 2006 Oct;3(10)

Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes
Harding AH, et al.
Diabetologia 2006 Nov;49(11):2642-8

Lack of association between FCRL3 and FcgammaRII polymorphisms in Japanese type 1 autoimmune hepatitis
Umemura T, et al.
Clin Immunol 2006 Oct

PARL Leu262Val is not associated with fasting insulin levels in UK populations
Fawcett KA, et al.
Diabetologia 2006 Nov;49(11):2649-52

Variants in the 5' region of the neuropeptide Y receptor Y2 gene (NPY2R) are associated with obesity in 5,971 white subjects
Torekov SS, et al.
Diabetologia 2006 Nov;49(11):2653-8

A common polymorphism in the mineralocorticoid receptor modulates stress responsiveness
Derijk RH, et al.
J Clin Endocrinol Metab 2006 Oct

Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in greek familial hypercholesterolemia patients
Dedoussis GV, et al.
Genet Test 2006 Fall;10(3):192-9

Positive association of obesity with single nucleotide polymorphisms of syndecan 3 (SDC3) in Korean population
Ha E, et al.
J Clin Endocrinol Metab 2006 Oct

Obesity risk associated with the K121Q polymorphism of the glycoprotein PC-1 gene
Wan C, et al.
Diabetes Obes Metab 2006 Nov;8(6):703-8

Genetic susceptibility to rheumatic heart disease and streptococcal pharyngitis: association with HLA-DR alleles
Haydardedeoglu FE, et al.
Tissue Antigens 2006 Oct;68(4):293-6

 

Diseases of the Blood & Blood-Forming Organ Disorders

Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutations
Yan T, et al.
Haematologica 2006 Oct;91(10):1321-8

RAS and MTHFR Gene Polymorphisms in a Healthy Exercise-trained Population: Association with the MTHFR (TT) Genotype and a Lower Hemoglobin Level
Fortunato G, et al.
Int J Sports Med 2006 Oct

Polymorphisms of the methylenetetrahydrofolate reductase gene and clinical outcomes in HLA-matched sibling allogeneic hematopoietic stem cell transplantation
Kim I, et al.
Ann Hematol 2006 Oct

 

Mental Disorders

No association of DRD2, DRD3, and tyrosine hydroxylase gene polymorphisms with personality traits in the Japanese population
Hibino H, et al.
Behav Brain Funct 2006 Oct;2(1):32

Pharmacogenetics of Methylphenidate Response in Preschoolers With ADHD
McGough J, et al.
J Am Acad Child Adolesc Psychiatry 2006 Oct

Association between depression and G72 gene polymorphism
Hong W, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Oct;23(5):532-5

Association of Eating Disorders with Catechol-O-Methyltransferase Gene Functional Polymorphism
Mikolajczyk E, et al.
Neuropsychobiology 2006 Oct;54(1):82-6

Monoamine transporter gene polymorphisms and antidepressant response in koreans with late-life depression
Kim H, et al.
JAMA 2006 Oct;296(13):1609-18

           

Diseases of the Nervous System and Sense Organs

The -174G/C interleukin-6 promoter polymorphism influences the development of macular oedema following uncomplicated phacoemulsification surgery
Masood I, et al.
Eye 2006 Oct

Apolipoprotein E polymorphism and dendritic shape in hippocampal interneurons
Schonheit B, et al.
Neurobiol Aging 2006 Oct

Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations
Lundmark F, et al.
J Neuroimmunol 2006 Oct

Validity and Utility of a LRRK2 G2019S Mutation Test for the Diagnosis of Parkinson's Disease
Kay DM, et al.
Genet Test 2006 Fall;10(3):221-7

Association analysis of NAD(P)H:quinone oxidoreductase gene 609 C/T polymorphism with Alzheimer's disease
Wang B, et al.
Neurosci Lett 2006 Oct

Analysis of the C/T(-1)) single nucleotide polymorphism in the CD40 gene in multiple sclerosis
Buck D, et al.
Tissue Antigens 2006 Oct;68(4):335-8

 

Diseases of the Circulatory System

ACE I/D polymorphism in different etiologies of ischemic stroke
Pera J, et al.
Acta Neurol Scand 2006 Nov;114(5):320-2

Correlation between the polymorphism of platelet glycoprotein GPIb alpha Kozak gene and transcient ischemic attack
Song Y, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Oct;23(5):561-4

Association analysis of endothelial nitric oxide synthase gene polymorphism with primary hypertension in a Singapore population
Moe KT, et al.
J Hum Hypertens 2006 Oct

Association of the polymorphism of macrophage migration inhibitory factor gene with coronary heart disease in Chinese population
Shan Z, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Oct;23(5):548-50

Family-based association study of matrix metalloproteinase-3 and -9 haplotypes with susceptibility to ischemic white matter injury
Fornage M, et al.
Hum Genet 2006 Sep

TGF-{beta}1 Polymorphisms and Risk of Myocardial Infarction and Stroke. The Rotterdam Study
Sie MP, et al.
Stroke 2006 Oct

beta1-Adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome
Paavonen KJ, et al.
Int J Cardiol 2006 Oct

Lack of association between the platelet glycoprotein Ia C807T gene polymorphism and coronary artery disease: A meta-analysis
Tsantes AE, et al.
Int J Cardiol 2006 Oct

Long-term prognosis after coronary bypass surgery depends on interleukin 6 polymorphism and past acute infections
Mysliwska J, et al.
Int J Cardiol 2006 Oct

G501C polymorphism of oxidized LDL receptor gene (OLR1) and ischemic stroke
Hattori H, et al.
Brain Res 2006 Oct

ApoE genotype and cognition after subarachnoid haemorrhage: a longitudinal study
Louko AM, et al.
Acta Neurol Scand 2006 Nov;114(5):315-9

Genotype-Phenotype Association of Matrix Metalloproteinase-3 Polymorphism and Its Synergistic Effect With Smoking on the Occurrence of Acute Coronary Syndrome
Liu PY, et al.
Am J Cardiol 2006 Oct;98(8):1012-7

Endothelial Nitric Oxide Synthase Gene Polymorphisms and Cardiovascular Disease: A HuGE Review
Casas JP, et al.
Am J Epidemiol 2006 Oct

EPCR gene A3 haplotype and elevated soluble endothelial protein C receptor (sEPCR) levels in Turkish pediatric stroke patients
Ulu A, et al.
Thromb Res 2006 Oct

Associations between Ser447Ter gene polymorphism of lipoprotein lipase and atherosclerotic cerebral infarction
Guan G, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Oct;23(5):519-22

 

Diseases of the Respiratory System

Polymorphisms of interferon-gamma and interferon-gamma receptor 1 genes and non-tuberculous mycobacterial lung diseases
Hye Hwang J, et al.
Tuberculosis (Edinb) 2006 Oct

Association of Hck genetic polymorphisms with gene expression and COPD
Zhang X, et al.
Hum Genet 2006 Sep

IFNgamma and CXCR-1 gene polymorphisms in idiopathic bronchiectasis
Boyton RJ, et al.
Tissue Antigens 2006 Oct;68(4):325-30

 

Diseases of the Digestive System

Frequency of CARD15 Polymorphisms in Patients with Crohn's Disease from Toledo, Spain: Genotype-Phenotype Correlation
Diego CD, et al.
Genet Test 2006 Fall;10(3):178-85

 

Diseases of the Genitourinary System

Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor
Scillitani A, et al.
J Clin Endocrinol Metab 2006 Oct

Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure
Chand AL, et al.
Fertil Steril 2006 Oct;86(4):1009-12

 

Diseases of the Musculoskeletal System and Connective Tissue

Association study of COL9A2 with lumbar disc disease in the Japanese population
Seki S, et al.
J Hum Genet 2006 Sep

Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese
Jiang Q, et al.
J Hum Genet 2006 Sep

A functional M196R polymorphism of tumor necrosis factor receptor type 2 is associated with systemic lupus erythematosus: A case-control study and a meta-analysis
Horiuchi T, et al.
Ann Rheum Dis 2006 Oct

A relook into the association of the estrogen receptor
Tang NL, et al.
Spine 2006 Oct;31(21):2463-8

Programmed Death-1 Gene Polymorphisms in Patients With Systemic Lupus Erythematosus in Taiwan
Wang SC, et al.
J Clin Immunol 2006 Oct

Association of the CT gene (CA) polymorphism with BMD in osteoporotic mexican women
Magana J, et al.
Clin Genet 2006 Nov;70(5):402-8

Association of a BTLA gene polymorphism with the risk of rheumatoid arthritis
Lin SC, et al.
J Biomed Sci 2006 Oct

COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women
Bustamante M, et al.
Osteoporos Int 2006 Oct

 

Congenital Anomalies

The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida
van der Linden IJ, et al.
J Mol Med 2006 Oct

Association and mutation analysis of GLI3 gene in idiopathic congenital talipes equinovarus
Zhang X, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Oct;23(5):551-4

Mutation and Polymorphism Analyses of INSL3 and LGR8/GREAT in 62 Japanese Patients with Cryptorchidism
Yamazawa K, et al.
Horm Res 2006 Oct;67(2):73-6

 

Complications of Pregnancy, Childbirth and the Puerperium

Maternal human leukocyte antigen-G polymorphism is not associated with pre-eclampsia in a Chinese Han population
Lin A, et al.
Tissue Antigens 2006 Oct;68(4):311-6

 

Symptoms, Signs and Ill-defined Conditions

Association of DNA repair polymorphisms with DNA repair functional outcomes in healthy human subjects
Vodicka P, et al.
Carcinogenesis 2006 Oct

[Comparative study of APOB gene 3'VNTR polymorphisms between natural longevity and controls in Uighur nationality.]
Jiang W, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Oct;23(5):523-7

 

 

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Page last reviewed: June 8, 2007 (archived document)
Page last updated: November 2, 2007
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