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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
October 23, 2008
Volume 21, No. 17

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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

The genetic variability of MDR1 C3435T polymorphisms in four Southern Chinese populations
Dong Q, et al.
Biomed Pharmacother 2008 Sep

 

Infectious and Parasitic Diseases

Genetic Markers of IgG Influence the Outcome of Infection with Hepatitis C Virus
Pandey JP, et al.
J Infect Dis 2008 Nov;198(9):1334-6

Cytokine Polymorphisms Have a Synergistic Effect on Severity of the Acute Sickness Response to Infection
Vollmer-Conna U, et al.
Clin Infect Dis 2008 Oct

SDF1-3'A Gene Mutation Is Correlated with Increased Susceptibility to HIV Type 1  Infection by Sexual Transmission in Han Chinese
Wang Y, et al.
AIDS Res Hum Retroviruses 2008 Oct

 

Neoplasms

Relations between polymorphisms in drug-metabolising enzymes and toxicity of chemotherapy with cyclophosphamide, thiotepa and carboplatin
Ekhart C, et al.
Pharmacogenet Genomics 2008 Nov;18(11):1009-15

Germline genetic variations in drug action pathways predict clinical outcomes in  advanced lung cancer treated with platinum-based chemotherapy
Wu X, et al.
Pharmacogenet Genomics 2008 Nov;18(11):955-65

Up-regulation of inflammatory signalings by areca nut extract and role of cyclooxygenase-2 -1195G>a polymorphism reveal risk of oral cancer
Chiang SL, et al.
Cancer Res 2008 Oct;68(20):8489-98

Polymorphisms in the Interleukin-4 Receptor Gene are Associated with Better Survival in Patients with Glioblastoma
Scheurer ME, et al.
Clin Cancer Res 2008 Oct;14(20):6640-6

A specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome  acute lymphoblastic leukaemia
Kearney L, et al.
Blood 2008 Oct

Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations
Kim DH, et al.
Fam Cancer 2008 Oct

Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with increased risk for oral cancer
Yapijakis C, et al.
J Cancer Res Clin Oncol 2008 Oct

Is PTEN loss associated with clinical outcome measures in human prostate cancer?
McCall P, et al.
Br J Cancer 2008 Oct;99(8):1296-301

Association of Transforming Growth Factor-beta 1 Polymorphisms with Genetic Susceptibility to TNM Stage I or II Gastric Cancer
Zhang P, et al.
Jpn J Clin Oncol 2008 Oct

Case-control study and meta-analysis of SULT1A1 Arg213His polymorphism for gene,  ethnicity and environment interaction for cancer risk
Kotnis A, et al.
Br J Cancer 2008 Oct;99(8):1340-7

The effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other deleterious CHEK2 or BRCA1 mutations
Cybulski C, et al.
J Med Genet 2008 Oct

PTCH mutations in basal cell carcinomas from azathioprine-treated organ transplant recipients
Harwood CA, et al.
Br J Cancer 2008 Oct;99(8):1276-84

Drug Related Genetic Polymorphisms Affecting Adverse Reactions to Methotrexate, Vinblastine, Doxorubicin and Cisplatin in Patients With Urothelial Cancer
Tsuchiya N, et al.
J Urol 2008 Oct

A SNP in a let-7 microRNA complementary site in the KRAS 3' untranslated region increases non-small cell lung cancer risk
Chin LJ, et al.
Cancer Res 2008 Oct;68(20):8535-40

CYP2C19 pharmacogenetics in advanced cancer: compromised function independent of  genotype
Helsby NA, et al.
Br J Cancer 2008 Oct;99(8):1251-5

 

Endocrine, Nutritional and Metabolic Diseases

Estrogen receptor alpha gene variants associate with type 2 diabetes and fasting  plasma glucose
Dahlman I, et al.
Pharmacogenet Genomics 2008 Nov;18(11):967-75

Anthropometric and metabolic phenotypes in relation to the ADRA2B deletion/insertion polymorphism in Chinese population
Li LH, et al.
J Hypertens 2008 Nov;26(11):2161-7

The IFIH1 Polymorphisms Are Significantly Associated with Type 1 Diabetes and IFIH1 Gene Expression in Peripheral Blood Mononuclear Cells
Liu S, et al.
Hum Mol Genet 2008 Oct

Study on homocysteine levels and methylenetetrahydrofolate reductase gene variant (C677T) in a population of Buenos Aires city
Fridman O, et al.
Clin Exp Hypertens 2008 Oct;30(7):574-84

The FTO Obesity Gene. Genotyping and Gene Expression Analysis in Morbidly Obese Patients
Zabena C, et al.
Obes Surg 2008 Oct

Influence of the TSH Receptor Gene on Susceptibility to Graves' Disease and Graves' Ophthalmopathy
Yin X, et al.
Thyroid 2008 Oct

Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure
Safranow K, et al.
Scand J Clin Lab Invest 2008 Oct:1-11

Changes in insulin sensitivity during leptin replacement therapy in leptin-deficient patients
Paz-Filho G, et al.
Am J Physiol Endocrinol Metab 2008 Oct

Evaluation of the association between retinal binding protein 4 polymorphisms and type 2 diabetes in Chinese by DHPLC
Liu J, et al.
Endocrine 2008 Oct

Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome
Kevenaar ME, et al.
Hum Reprod 2008 Oct

 

Mental Disorders

G-protein gene 825C>T polymorphism is associated with response to clozapine in Brazilian schizophrenics
Kohlrausch FB, et al.
Pharmacogenomics 2008 Oct;9(10):1429-36

Variants of dopamine and serotonin candidate genes as predictors of response to risperidone treatment in first-episode schizophrenia
Ikeda M, et al.
Pharmacogenomics 2008 Oct;9(10):1437-43

Polymorphism of dopamine D2 receptor (TaqIA, TaqIB, and-141C Ins/Del) and dopamine degradation enzyme (COMT G158A, A-278G) genes and extrapyramidal symptoms in patients with schizophrenia and bipolar disorders
Lafuente A, et al.
Psychiatry Res 2008 Oct

A Functional Haplotype Implicated in Vulnerability to Develop Cocaine Dependence  is Associated with Reduced PDYN Expression in Human Brain
Yuferov V, et al.
Neuropsychopharmacology 2008 Oct

The influence of serotonin- and other genes on impulsive behavioral aggression and cognitive impulsivity in children with attention-deficit/hyperactivity disorder (ADHD): Findings from a family-based association test (FBAT) analysis
Oades RD, et al.
Behav Brain Funct 2008 Oct;4(1):48

Effects of DRD2/ANKK1 gene variations and clinical factors on aripiprazole efficacy in schizophrenic patients
Shen YC, et al.
J Psychiatr Res 2008 Oct

No association found between the promoter variations of QKI and schizophrenia in  the Chinese population
Huang K, et al.
Prog Neuropsychopharmacol Biol Psychiatry 2008 Oct

Serotonin transporter gene variation and stressful life events impact processing  of fear and anxiety
Armbruster D, et al.
Int J Neuropsychopharmacol 2008 Oct:1-9

The epsin 4 gene is associated with psychotic disorders in families of Latin American origin
Escamilla M, et al.
Schizophr Res 2008 Oct

Replication of a rare protective allele in the noradrenaline transporter gene and ADHD
Xu X, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Oct

Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic  associations of ADHD: A preliminary study
Biederman J, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Oct

 

Diseases of the Nervous System and Sense Organs

Characterization of the transcriptional regulation of the human MT1-MMP gene and  association of risk reduction for focal-segmental glomerulosclerosis with two functional promoter SNPs
Munkert A, et al.
Nephrol Dial Transplant 2008 Oct

LRRK2 P755L variant in sporadic Parkinson's disease
Tomiyama H, et al.
J Hum Genet 2008 Oct

Lack of replication of association between GIGYF2 variants and Parkinson disease
Bras J, et al.
Hum Mol Genet 2008 Oct

Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS
Martin I, et al.
Amyotroph Lateral Scler 2008 Oct:1-4

GAB2 is not associated with late-onset Alzheimer's disease in Japanese
Miyashita A, et al.
Eur J Hum Genet 2008 Oct

CFH and LOC387715/ARMS2 genotypes and antioxidants and zinc therapy for age-related macular degeneration
Lee AY & Brantley MA Jr
Pharmacogenomics 2008 Oct;9(10):1547-50

Lack of association of APOE and tau polymorphisms with dementia in Parkinson's disease
Ezquerra M, et al.
Neurosci Lett 2008 Oct

Fine-mapping and candidate gene investigation within the PARK10 locus
Haugarvoll K, et al.
Eur J Hum Genet 2008 Oct

 

Diseases of the Circulatory System

Genetic variation in the KCNMA1 potassium channel alpha subunit as risk factor for severe essential hypertension and myocardial infarction
Tomas M, et al.
J Hypertens 2008 Nov;26(11):2147-53

The KCNMB1 Glu65Lys polymorphism associates with reduced systolic and diastolic blood pressure in the Inter99 study of 5729 Danes
Nielsen T, et al.
J Hypertens 2008 Nov;26(11):2142-6

Genetic variation in the ASIC3 gene influences blood pressure levels in Taiwanese
Ko YL, et al.
J Hypertens 2008 Nov;26(11):2154-60

Association of rs2200733 at 4q25 with atrial flutter/fibrillation diseases in an  Italian population
Viviani Anselmi C, et al.
Heart 2008 Nov;94(11):1394-6

Impact of endothelin-1 Lys198Asn polymorphism on coronary artery disease and endorgan damage in hypertensives
Popov AF, et al.
Coron Artery Dis 2008 Nov;19(7):429-34

Protective effect of a GRK5 polymorphismon heart failure and its interaction with beta-adrenergic receptor antagonists
Eijgelsheim M, et al.
Pharmacogenomics 2008 Oct;9(10):1551-5

Angiotensin-converting enzyme 2 A1075G polymorphism is associated with survival in an acute coronary syndromes cohort
Palmer BR, et al.
Am Heart J 2008 Oct;156(4):752-8

The 223A>G polymorphism of the leptin receptor gene and lipid-lowering efficacy of simvastatin in Chinese patients with coronary heart disease
Sun YM, et al.
Eur J Clin Pharmacol 2008 Oct

The univariation and multiple linear regression analyses for seventeen SNPs in thirteen cardiovascular disease-predisposing genes and blood pressure in Chinese  Han males
Tang M, et al.
Clin Exp Hypertens 2008 Oct;30(7):648-61

Clinical variables, not RAAS polymorphisms, predict blood pressure response to ACE inhibitors in Sardinians
Filigheddu F, et al.
Pharmacogenomics 2008 Oct;9(10):1419-27

Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion
Thompson AR, et al.
Eur J Hum Genet 2008 Oct

Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study
Dehghan A, et al.
BMC Med 2008 Oct;6(1):30

Interaction between PPARA genotype and beta-blocker treatment influences clinical outcomes following acute coronary syndromes
Cresci S, et al.
Pharmacogenomics 2008 Oct;9(10):1403-17

Factor V Leiden and Antiphospholipid Antibodies in Either Mothers or Infants Increase the Risk for Perinatal Arterial Ischemic Stroke
Simchen MJ, et al.
Stroke 2008 Oct

Glucocorticoid Receptor Gene Variant in the 3' Untranslated Region is Associated  with Multiple Measures of Blood Pressure
Chung CC, et al.
J Clin Endocrinol Metab 2008 Oct

The -2548G/A LEP polymorphism is associated with blood pressure in Tunisian obese patients
Ben Ali S, et al.
Blood Press 2008 Oct:1-6

Seven Lipoprotein Lipase Gene Polymorphisms, Lipid Fractions, and Coronary Disease: A HuGE Association Review and Meta-Analysis
Sagoo GS, et al.
Am J Epidemiol 2008 Oct

 

Diseases of the Respiratory System

The CR1 C5507G polymorphism is not involved in susceptibility to idiopathic pulmonary fibrosis in two European populations
Kubistova Z, et al.
Tissue Antigens 2008 Nov;72(5):483-6

Effect of 17q21 Variants and Smoking Exposure in Early-Onset Asthma
Bouzigon E, et al.
N Engl J Med 2008 Oct

An Association Study of 13 SNPs from Seven Candidate Genes with Pediatric Asthma  and a Preliminary Study for Genetic Testing by Multiple Variants in Taiwanese Population
Wang JY, et al.
J Clin Immunol 2008 Oct

Genetic association and expression studies indicate a role of toll-like receptor  8 in pulmonary tuberculosis
Davila S, et al.
PLoS Genet 2008 Oct;4(10):e1000218

Lack of Association between Cytokine Gene Polymorphisms and Silicosis and Pulmonary Tuberculosis in Chinese Iron Miners
Wu F, et al.
J Occup Health 2008 Oct

 

Diseases of the Digestive System

Polymorphisms of MRP2 (ABCC2) are associated with susceptibility to nonalcoholic  fatty liver disease
Sookoian S, et al.
J Nutr Biochem 2008 Oct

Positive association of genetic variants in the upstream region of NXT2-3 with Crohn's disease in Japanese patients
Yamazaki K, et al.
Gut 2008 Oct

The association of MMP-9 and IL-18 gene promoter polymorphisms with gingivitis in adolescents
Vokurka J, et al.
Arch Oral Biol 2008 Oct


Diseases of the Genitourinary System

USP26 gene variations in fertile and infertile men
Ribarski I, et al.
Hum Reprod 2008 Oct

A functional promoter polymorphism in interleukin-10 gene influences susceptibility to endometriosis
Hank Juo SH, et al.
Fertil Steril 2008 Oct

CYP17 and CYP19 gene polymorphisms in women affected with endometriosis
Vietri MT, et al.
Fertil Steril 2008 Oct

 

Complications of Pregnancy, Childbirth, and the Puerperium

Mannose-binding lectin-2 genotypes and recurrent late pregnancy losses
Christiansen OB, et al.
Hum Reprod 2008 Oct

eNOS haplotypes associated with gestational hypertension or preeclampsia
Sandrim VC, et al.
Pharmacogenomics 2008 Oct;9(10):1467-73

 

Diseases of the Skin and Subcutaneous Tissue

Association of the CTG (-2578/-460/+405) haplotype within the vascular endothelial growth factor gene with early-onset psoriasis
Wongpiyabovorn J, et al.
Tissue Antigens 2008 Nov;72(5):458-63

Further Genetic Evidence for Three Psoriasis-Risk Genes: ADAM33, CDKAL1, and PTPN22
Li Y, et al.
J Invest Dermatol 2008 Oct

 

Diseases of the Musculoskeletal System and Connective Tissue

Role of Polymorphisms in AdamantiadesBehcet's Disease
Kaklamani VG, et al.
J Rheumatol 2008 Oct

Influence of HLA-B*5703 and HLA-B*1403 on Susceptibility to Spondyloarthropathies in the Zambian Population
Diaz-Pena R, et al.
J Rheumatol 2008 Oct

Hip fracture risk and different gene polymorphisms in the Turkish population
Dincel E, et al.
Clinics 2008 Oct;63(5):645-50

 

Injury and Poisoning

IL12RB2 and ABCA1 Genes Are Associated with Susceptibility to Radiation Dermatitis
Isomura M, et al.
Clin Cancer Res 2008 Oct;14(20):6683-9

 

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Page last reviewed: October 23, 2008 (archived document)
Content Source: National Office of Public Health Genomics