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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
September 20, 2007
Volume 19, No. 12

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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

Genetic polymorphisms of XRCC1 (at codons 194 and 399) in Shiraz population (Fars province, southern Iran)
Mohamadynejad P & Saadat M
Mol Biol Rep 2007 Sep

High-resolution HLA alleles and haplotypes in the United States population
Maiers M, et al.
Hum Immunol 2007 Sep;68(9):779-88

Genotype-phenotype study of familial hemophagocytic lymphohistiocytosis due to perforin mutations
Trizzino A, et al.
J Med Genet 2007 Sep

 

Infectious and Parasitic Diseases

Mannose binding lectin gene variants and susceptibility to tuberculosis in HIV-1  infected patients of South India
Alagarasu K, et al.
Tuberculosis (Edinb) 2007 Sep

Interleukin-6 gene variants and the risk of sepsis development in children
Michalek J, et al.
Hum Immunol 2007 Sep;68(9):756-60

Role of Homozygous DC-SIGNR 5/5 Tandem Repeat Polymorphism in HIV-1 Exposed Seronegative North Indian Individuals
Rathore A, et al.
J Clin Immunol 2007 Sep

 

Neoplasms

Genetic variation in the DNA repair genes is predictive of outcome in lung cancer
Matakidou A, et al.
Hum Mol Genet 2007 Oct;16(19):2333-40

Lung Cancer Survival and Functional Polymorphisms in MBL2, an Innate-Immunity Gene
Pine SR, et al.
J Natl Cancer Inst 2007 Sep

Polymorphisms in hMLH1 and risk of early-onset lung cancer in a southeast Chinese population
An Y, et al.
Lung Cancer 2007 Sep

A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer
Lin Z, et al.
Hum Mutat 2007 Sep

Matrix Metalloproteinase-2 Promoter Polymorphism Is Associated with Breast Cancer in a Mexican Population
Delgado-Enciso I, et al.
Gynecol Obstet Invest 2007 Sep;65(1):68-72

The CYP3A4( *)1B polymorphism and prostate cancer susceptibility in a Portuguese  population
Nogal A, et al.
Cancer Genet Cytogenet 2007 Sep;177(2):149-52

Association of IL-8 (-251)T/A polymorphism with susceptibility to and aggressiveness of nasopharyngeal carcinoma
Nasr HB, et al.
Hum Immunol 2007 Sep;68(9):761-9

Polymorphism of XRCC1 and the frequency of mutation in codon 249 of the p53 gene  in hepatocellular carcinoma among guangxi population, China
Long XD, et al.
Mol Carcinog 2007 Sep

DNA-repair and carcinogen-metabolising enzymes genetic polymorphisms as an independent risk factor for hepatocellular carcinoma in Caucasian liver-transplanted patients
Borentain P, et al.
Eur J Cancer 2007 Sep

TGFBR1(*)6A and Int7G24A variants of transforming growth factor-beta receptor 1 in Swedish familial and sporadic breast cancer
Song B, et al.
Br J Cancer 2007 Sep

A genome-wide association screen identifies regions on chromosomes 1q25 and 7p21  as risk loci for sporadic prostate cancer
Nam RK, et al.
Prostate Cancer Prostatic Dis 2007 Sep

Associations between Androgen and Vitamin D Receptor Microsatellites and Postmenopausal Breast Cancer
Wedren S, et al.
Cancer Epidemiol Biomarkers Prev 2007 Sep;16(9):1775-83

TGFB1 and TGFBR1 polymorphisms and breast cancer risk in the Nurses' Health Study
Cox DG, et al.
BMC Cancer 2007 Sep;7(1):175

MDR1 Single Nucleotide Polymorphisms Predict Response to Vinorelbine-Based Chemotherapy in Patients with Non-Small Cell Lung Cancer
Pan JH, et al.
Respiration 2007 Sep

Genetic variants in the H2AFX promoter region are associated with risk of sporadic breast cancer in non-Hispanic white women aged </=55 years
Lu J, et al.
Breast Cancer Res Treat 2007 Sep

 

Endocrine, Nutritional and Metabolic Diseases

Common genetic variation in calpain-10 gene (CAPN10) and diabetes risk in a multi-ethnic cohort of American postmenopausal women
Song Y, et al.
Hum Mol Genet 2007 Sep

The associations among eNOS G894T gene polymorphism, erectile dysfunction and related risk factors
Lee YC, et al.
BJU Int 2007 Sep

Association of single nucleotide polymorphisms in MTMR9 gene with obesity
Yanagiya T, et al.
Hum Mol Genet 2007 Sep

Mannose binding lectin gene polymorphisms are associated with type 1 diabetes in  Brazilian children and adolescents
Araujo J, et al.
Hum Immunol 2007 Sep;68(9):739-43

Association between obesity and insulin resistance with UCP2-UCP3 gene variants in Spanish children and adolescents
Ochoa MC, et al.
Mol Genet Metab 2007 Sep

Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis
Viken MK, et al.
Hum Immunol 2007 Sep;68(9):748-55

A 100K genome-wide association scan for diabetes and related traits in the Framingham Heart Study: replication and integration with other genome-wide datasets
Florez JC, et al.
Diabetes 2007 Sep

 

Mental Disorders

Association of the Aldehyde Dehydrogenase 2 Promoter Polymorphism With Alcohol Consumption and Reactions in an American Jewish Population
Fischer M, et al.
Alcohol Clin Exp Res 2007 Oct;31(10):1654-9

Analysis of association of clinical correlates and 5-HTTLPR polymorphism with suicidal behavior among Chinese methamphetamine abusers
Chen CK, et al.
Psychiatry Clin Neurosci 2007 Oct;61(5):479-86

Family-Based Association Analyses of Alcohol Dependence Phenotypes Across DRD2 and Neighboring Gene ANKK1
Dick DM, et al.
Alcohol Clin Exp Res 2007 Oct;31(10):1645-53

Association between PNPO and schizophrenia in the Japanese population
Song H, et al.
Schizophr Res 2007 Sep

Further evidence of association between two NET single-nucleotide polymorphisms with ADHD
Kim JW, et al.
Mol Psychiatry 2007 Sep

Dopamine beta-hydroxylase (DBH) activity and -1021C/T polymorphism of DBH gene in combat-related post-traumatic stress disorder
Mustapic M, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Sep

Susceptibility of schizophrenia and affective disorder not associated with loci on chromosome 6q in Han Chinese population
Wang Z, et al.
Behav Brain Funct 2007 Sep;3(1):46

Catechol-O-methyltransferase gene and obsessive-compulsive symptoms in patients with recent-onset schizophrenia: Preliminary results
Zinkstok J, et al.
Psychiatry Res 2007 Sep

Lack of Association of Alcohol Dependence and Habitual Smoking With Catechol-O-methyltransferase
Foroud T, et al.
Alcohol Clin Exp Res 2007 Sep

 

Diseases of the Nervous System and Sense Organs

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss
Wagatsuma M, et al.
Clin Genet 2007 Oct;72(4):339-44

{alpha}-Synuclein and Parkinson disease susceptibility
Winkler S, et al.
Neurology 2007 Sep

The PPAR-alpha gene in Alzheimer's disease: Lack of replication of earlier association
Sjolander A, et al.
Neurobiol Aging 2007 Sep

NRAMP1 (SLC11A1): A Plausible Candidate Gene for Systemic Sclerosis (SSc) with Interstitial Lung Involvement
Ates O, et al.
J Clin Immunol 2007 Sep

The role of common genetic risk variants in Parkinson disease
Tan EK
Clin Genet 2007 Sep

Meta-analysis of genetic variability in the beta-amyloid production, aggregation  and degradation metabolic pathways and the risk of Alzheimer's disease
Llorca J, et al.
Acta Neurol Scand 2007 Sep

Intercellular adhesion molecule-1 gene polymorphism in Iranian patients with multiple sclerosis
Mousavi SA, et al.
Eur J Neurol 2007 Sep

Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRR
Dean J, et al.
Am J Med Genet A 2007 Sep

Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels
Akkad DA, et al.
Genes Immun 2007 Sep

Preliminary evidences of a NOS2A protective effect from Relapsing-Remitting Multiple Sclerosis
Manna I, et al.
J Neurol Sci 2007 Sep

Diseases of the Circulatory System

14 bp deletion polymorphism in the HLA-G gene is a risk factor for idiopathic dilated cardiomyopathy in a Chinese Han population
Lin A, et al.
Tissue Antigens 2007 Sep

RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy
Kaufman BD, et al.
Hum Genet 2007 Sep

IL-6 gene variation is associated with IL-6 and C-reactive protein levels but not cardiovascular outcomes in the Cardiovascular Health Study
Walston JD, et al.
Hum Genet 2007 Sep

Association of estrogen receptor-alpha gene polymorphisms with stroke risk in patients with metabolic syndrome
Lazaros L, et al.
Acta Neurol Scand 2007 Sep

Association of Vascular Endothelial Growth Factor C-634 G Polymorphism in Taiwanese Children With Kawasaki Disease
Hsueh KC, et al.
Pediatr Cardiol 2007 Sep

The paraoxonase gene polymorphism in stroke patients and lipid profile
Shin BS, et al.
Acta Neurol Scand 2007 Sep

An increased frequency of the 5A allele in the promoter region of the MMP3 gene is associated with abdominal aortic aneurysms
Deguara J, et al.
Hum Mol Genet 2007 Sep

The MBL2 'LYQA secretor' haplotype is an independent predictor of postoperative myocardial infarction in whites undergoing coronary artery bypass graft surgery
Collard CD, et al.
Circulation 2007 Sep;116(11 Suppl):I106-12

Butyrylcholinesterase K variants increase the risk of coronary artery disease in  the population of western Iran
Vaisi-Raygani A, et al.
Scand J Clin Lab Invest 2007 Sep:1-11

Diseases of the Digestive System

Has Toll-Like Receptor 4 Been Prematurely Dismissed as an Inflammatory Bowel Disease Gene? Association Study Combined With Meta-Analysis Shows Strong Evidence for Association
Browning BL, et al.
Am J Gastroenterol 2010 Sep

Crohn's disease incidence evolution in North-western Greece is not associated with alteration of NOD2/CARD15 variants
Economou M, et al.
World J Gastroenterol 2007 Oct;13(38):5116-20

Association of the polymorphisms in promoter and intron regions of the interleukin-4 gene with chronic periodontitis in a Turkish population
Kara N, et al.
Acta Odontol Scand 2007 Sep:1-6

Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to  inflammatory bowel disease
D'Amato M, et al.
Gastroenterology 2007 Sep;133(3):808-17

Association of apolipoprotein A1-C3 gene cluster polymorphisms with gallstone disease
Dixit M, et al.
Can J Gastroenterol 2007 Sep;21(9):569-75

High proportion of large genomic deletions and genotype-phenotype update in 80 unrelated families with Juvenile Polyposis Syndrome
Aretz S, et al.
J Med Genet 2007 Sep

 

Diseases of the Genitourinary System

Polymorphism of the GRTH/DDX25 gene in normal and infertile Japanese men: a missense mutation associated with loss of GRTH phosphorylation
Tsai-Morris CH, et al.
Mol Hum Reprod 2007 Sep

IMPDH1 Gene Polymorphisms and Association With Acute Rejection in Renal Transplant Patients
Wang J, et al.
Clin Pharmacol Ther 2007 Sep

Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure
Eller P, et al.
Nephrol Dial Transplant 2007 Sep

 

Complications of Pregnancy, Childbirth, and the Puerperium

Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery
Steffen KM, et al.
J Perinatol 2007 Sep

 

Diseases of the Skin and Subcutaneous Tissue

HLA-DQB1*0602 allele is associated with splenomegaly in Japanese sarcoidosis
Sato H, et al.
J Intern Med 2007 Oct;262(4):449-57

Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic  dermatitis
Soderhall C, et al.
PLoS Biol 2007 Sep;5(9):e242

 

Diseases of the Musculoskeletal System and Connective Tissue

Variant mannose-binding lectin 2 genotype is a risk factor for reactive systemic  amyloidosis in rheumatoid arthritis
Maury CP, et al.
J Intern Med 2007 Oct;262(4):466-9

The MHC2TA -168A/G polymorphism and risk for rheumatoid arthritis: a meta-analysis of 6,861 patients and 9,270 controls reveals no evidence for association
Bronson PG, et al.
Ann Rheum Dis 2007 Sep

Associations between HLA-DRB1, RANK, RANKL, OPG, and IL-17 genotypes and disease  severity phenotypes in Japanese patients with early rheumatoid arthritis
Furuya T, et al.
Clin Rheumatol 2007 Sep

Macrophage migration inhibitory factor gene: Influence on rheumatoid arthritis susceptibility
Martinez A, et al.
Hum Immunol 2007 Sep;68(9):744-7

Role of CYP2C9 and CYP2C19 polymorphisms in patients with atherosclerosis
Ercan B, et al.
Cell Biochem Funct 2007 Sep

 

Congenital Anomalies

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population
Suphapeetiporn K, et al.
Clin Genet 2007 Sep

 

Certain Conditions Originating in the Perinatal Period

Prenatal alcohol exposure, CYP17 gene polymorphisms and fetal growth restriction
Delpisheh A, et al.
Eur J Obstet Gynecol Reprod Biol 2007 Sep

 

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Page last reviewed: September 20, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics