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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
October 4, 2007
Volume 19, No. 14

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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

Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population
Ben Fredj R, et al.
C R Biol 2007 Oct;330(10):764-9

HLA class I (A, B, C) and class II (DRB1, DQA1, DQB1, DPB1) alleles and haplotypes in the Han from southern China
Trachtenberg E, et al.
Tissue Antigens 2007 Sep

NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome
Berdeli A, et al.
Pediatr Nephrol 2007 Sep

 

Neoplasms

Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene
Ziolkowska I, et al.
Cancer Sci 2007 Nov;98(11):1701-5

DNA Repair Polymorphisms Modify Bladder Cancer Risk: A Multi-factor Analytic Strategy
Andrew AS, et al.
Hum Hered 2007 Sep;65(2):105-18

The gene polymorphism of the Angiotensin I-converting enzyme correlates with tumor size and patient survival in colorectal cancer patients
Rocken C, et al.
Neoplasia 2007 Sep;9(9):716-22

I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer
Roznowski K, et al.
Breast Cancer Res Treat 2007 Sep

Variation in DNA repair genes XRCC3, XRCC4, XRCC5 and susceptibility to myeloma
Hayden PJ, et al.
Hum Mol Genet 2007 Sep

CYP1A1 and GSTM1 polymorphisms and lung cancer risk in Chinese populations: A meta-analysis
Shi X, et al.
Lung Cancer 2007 Sep

Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1,  ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer
Tsezou A, et al.
Breast 2007 Sep

Polymorphism of cytosolic serine hydroxymethyltransferase, estrogen and breast cancer risk among Chinese women in Taiwan
Cheng CW, et al.
Breast Cancer Res Treat 2007 Sep

The role of GSTM1 gene polymorphisms in lung cancer development in Turkish population
Demir A, et al.
J Carcinog 2007 Sep;6(1):13

MANBA polymorphism was related to increased risk of colorectal cancer in Swedish  but not in Chinese populations
Gao J, et al.
Acta Oncol 2007 Sep:1-7

DNA Repair Polymorphisms XRCC1 and MGMT and Risk of Adult Gliomas
Felini MJ, et al.
Neuroepidemiology 2007 Sep;29(1-2):55-8

 

Mental Disorders

Association study of an (AC)n dinucleotide repeat and schizophrenia in Asian and European populations
Ma J, et al.
Yi Chuan 2007 Oct;29(10):1207-13

Meta-study on association between the monoamine oxidase A gene (MAOA) and schizophrenia
Li D & He L
Am J Med Genet B Neuropsychiatr Genet 2007 Sep

Association analysis of the glial cell line-derived neurotrophic factor (GDNF) gene in schizophrenia
Williams HJ, et al.
Schizophr Res 2007 Sep

Systematic Association Studies of Mitochondrial DNA Variations in Schizophrenia:  Focus on the ND5 Gene
Bamne MN, et al.
Schizophr Bull 2007 Sep

Association of the SLC1A1 glutamate transporter gene and obsessive-compulsive disorder
Stewart SE, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Sep

Brain-specific tryptophan hydroxylase 2 (TPH2): A functional Pro206Ser substitution and variation in the 5'-region are associated with bipolar affective disorder
Cichon S, et al.
Hum Mol Genet 2007 Sep

Interleukin-1 beta gene polymorphism and its interactions with neuregulin-1 gene  polymorphism are associated with schizophrenia
Hanninen K, et al.
Eur Arch Psychiatry Clin Neurosci 2007 Sep

 

Diseases of the Nervous System and Sense Organs

The relationship between HLA-DRB1 alleles and optic neuritis in Irish patients and the risk of developing multiple sclerosis
Tuwir I, et al.
Br J Ophthalmol 2007 Oct;91(10):1288-92

The Roles of PAX6 and SOX2 in Myopia: Lessons from the 1958 British Birth Cohort
Simpson CL, et al.
Invest Ophthalmol Vis Sci 2007 Oct;48(10):4421-5

Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine
Oterino A, et al.
J Headache Pain 2007 Sep

A high frequency of the MTHFR 677C>T polymorphism in Scottish women with epilepsy: Possible role in pathogenesis
Dean JC, et al.
Seizure 2007 Sep

Gene variations in GSTM3 are a risk factor for Alzheimer's disease
Hong GS, et al.
Neurobiol Aging 2007 Sep

HTRA1 variant increases risk to neovascular age-related macular degeneration in Chinese population
Lu F, et al.
Vision Res 2007 Sep

The transcription factor PITX3 is associated with sporadic Parkinson's disease
Fuchs J, et al.
Neurobiol Aging 2007 Sep

Interaction between CD14 and LXRbeta genes modulates Alzheimer's disease risk
Rodriguez-Rodriguez E, et al.
J Neurol Sci 2007 Sep

Diseases of the Circulatory System

The interleukin-10-1082 'A' allele and abdominal aortic aneurysms
Bown MJ, et al.
J Vasc Surg 2007 Oct;46(4):687-93

Risk of venous thrombosis: obesity and its joint effect with oral contraceptive use and prothrombotic mutations
Pomp ER, et al.
Br J Haematol 2007 Oct;139(2):289-96

Long QT and Brugada syndrome gene mutations in New Zealand
Chung SK, et al.
Heart Rhythm 2007 Oct;4(10):1306-14

Tissue Inhibitor of Metalloproteinase-1 (TIMP-1) Polymorphisms in a Caucasian Population with Abdominal Aortic Aneurysm
Hinterseher I, et al.
World J Surg 2007 Sep

Hereditary Thrombophilic Risk Factors and Venous Thromboembolism in Istanbul, Turkey: The Role in Different Clinical Manifestations of Venous Thromboembolism
Okumus G, et al.
Clin Appl Thromb Hemost 2007 Sep

Impact of FXIII-A Val34Leu polymorphism on coronary artery disease in Croatian patients
Bronic A, et al.
Mol Biol Rep 2007 Sep

MTHFR A1298C polymorphism is associated with cardiovascular risk in end stage renal disease in North Indians
Poduri A, et al.
Mol Cell Biochem 2007 Sep

Association analysis of IL-12B and IL-23R polymorphisms in myocardial infarction
Mangino M, et al.
J Mol Med 2007 Sep

Association of the T54 allele of the FABP2 gene with cardiovascular risk factors  in obese Mexican subjects
Martinez-Lopez E, et al.
Diab Vasc Dis Res 2007 Sep;4(3):235-6

 

Diseases of the Respiratory System

Association of polymorphisms in the mannose-binding lectin gene and pulmonary morbidity in preterm infants
Hilgendorff A, et al.
Genes Immun 2007 Sep

 

Diseases of the Digestive System

Influence of a nucleotide oligomerization domain 1 (NOD1) polymorphism and NOD2 mutant alleles on Crohn's disease phenotype
Canto E, et al.
World J Gastroenterol 2007 Nov;13(41):5446-53

Methylenetetrahydrofolate reductase C677T polymorphism and liver fibrosis progression in patients with recurrent hepatitis C
Toniutto P, et al.
Liver Int 2007 Sep

IL23R R381Q and ATG16L1 T300A Are Strongly Associated With Crohn's Disease in a Study of New Zealand Caucasians With Inflammatory Bowel Disease
Roberts RL, et al.
Am J Gastroenterol 2007 Sep

 

Complications of Pregnancy, Childbirth, and the Puerperium

Associations between 2 polymorphisms in the methylenetetrahydrofolate reductase gene and placental abruption
Ananth CV, et al.
Am J Obstet Gynecol 2007 Oct;197(4):385.e1-7

Estrogen Receptor Alpha and Beta Gene Polymorphisms Are Not Risk Factors for Recurrent Miscarriage in a Brazilian Population
Alessio AM, et al.
Clin Appl Thromb Hemost 2007 Sep

 

Diseases of the Skin and Subcutaneous Tissue

A common haplotype of the IL-31 gene influencing gene expression is associated with nonatopic eczema
Schulz F, et al.
J Allergy Clin Immunol 2007 Sep

 

Diseases of the Musculoskeletal System and Connective Tissue

Association between radiographic severity of rheumatoid arthritis and shared epitope alleles: differing mechanisms of susceptibility and protection
Mewar D, et al.
Ann Rheum Dis 2007 Sep

IL1RN*2 allele of IL-1receptor antagonist VNTR polymorphism is associated with susceptibility to anklyosing spondylitis in Indian patients
Agrawal S, et al.
Clin Rheumatol 2007 Sep

Variation in the relative copy number of the TLR7 gene in patients with systemic  lupus erythematosus and healthy control subjects
Kelley J, et al.
Arthritis Rheum 2007 Sep;56(10):3375-8

Estrogen receptor alpha CA dinucleotide repeat polymorphism is associated with rate of bone loss in perimenopausal women and bone mineral density and risk of osteoporotic fractures in postmenopausal women
Lai BM, et al.
Osteoporos Int 2007 Sep

 

Certain Conditions Originating in the Perinatal Period

Polymorphisms Identified in the Upstream Core Polyadenylation Signal of IGF1 Gene Exon 6 do not Cause Pre and Postnatal Growth Impairment
Coutinho DC, et al.
J Clin Endocrinol Metab 2007 Sep

 

Symptoms, Signs and Ill-defined Conditions

Association of ABCB1/MDR1 and OPRM1 Gene Polymorphisms With Morphine Pain Relief
Campa D, et al.
Clin Pharmacol Ther 2007 Sep

 

 

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Page last reviewed: October 4, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics