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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 16, 2006
Volume 16, No. 7

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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

The role of the G6PD AEth376G/968C allele in glucose-6-phosphate dehydrogenase deficiency in the seerer population of Senegal
De Araujo C, et al.
Haematologica 2006 Feb;91(2):262-3

Haplotype analysis of UDP-glucuronocyltransferase 2B7 gene (UGT2B7) polymorphisms in healthy Japanese subjects
Saito K, et al.
Clin Biochem 2006 Feb

CYP2A6 and CYP2E1 polymorphisms in a Brazilian population living in Rio de Janeiro
Rossini A, et al.
Braz J Med Biol Res 2006 Feb;39(2):195-201

HLA genes in Southern Tunisians (Ghannouch area) and their Relationship with other Mediterraneans
Hajjej A, et al.
Eur J Med Genet 2006 Jan-2006 Feb;49(1):43-56

 

Infectious and Parasitic Diseases

SLC11A1 (formerly NRAMP1) gene polymorphisms and tuberculosis susceptibility: a meta-analysis
Li HT, et al.
Int J Tuberc Lung Dis 2006 Jan;10(1):3-12

Association between SLC11A1 polymorphisms and susceptibility to different clinical forms of tuberculosis in the Peruvian population
Taype CA, et al.
Infect Genet Evol 2006 Feb

Lack of evidence for association between endothelial nitric oxide synthase gene polymorphism (glu298asp) with Behcet's disease in the Turkish population
Kara N, et al.
Arch Dermatol Res 2006 Feb:1-4

 

Neoplasms

A polymorphism in FAS gene promoter associated with increased risk of nasopharyngeal carcinoma and correlated with anti-nuclear autoantibodies induction
Bel Hadj Jrad B, et al.
Cancer Lett 2006 Feb;233(1):21-7

Matrix metalloproteinase-9 polymorphisms and renal cell carcinoma in a Japanese population
Awakura Y, et al.
Cancer Lett 2006 Feb

Bladder Cancer Predisposition: A Multigenic Approach to DNA-Repair and Cell-Cycle-Control Genes
Wu X, et al.
Am J Hum Genet 2006 Mar;78(3):464-79

A rapid and sensitive enzymatic method for epidermal growth factor receptor mutation screening
Janne PA, et al.
Clin Cancer Res 2006 Feb;12(3):751-8

Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas
Lee JW, et al.
Clin Cancer Res 2006 Jan;12(1):57-61

The GNAS1 T393C Polymorphism Predicts Survival in Patients with Clear Cell Renal Cell Carcinoma
Frey UH, et al.
Clin Cancer Res 2006 Feb;12(3):759-63

Clinical course of patients with non-small cell lung cancer and epidermal growth factor receptor exon 19 and exon 21 mutations treated with gefitinib or erlotinib
Riely GJ, et al.
Clin Cancer Res 2006 Feb;12(3):839-44

RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability
Heikkinen K, et al.
Carcinogenesis 2006 Feb

The pattern of clinical breast cancer metastasis correlates with a single nucleotide polymorphism in the C1qA component of complement
Racila E, et al.
Immunogenetics 2006 Feb:1-8

Polymorphisms of CYP1A1, GSTM1, GSTT1, and Prostate Cancer Risk in Turkish Population
Silig Y, et al.
Cancer Invest 2006;24(1):41-5

mdr-1 Single Nucleotide Polymorphisms in Ovarian Cancer Tissue: G2677T/A Correlates with Response to Paclitaxel Chemotherapy
Green H, et al.
Clin Cancer Res 2006 Feb;12(3):854-9

MTHFR 677 (C-->T) polymorphism is not relevant for prognosis or therapy-associated toxicity in pediatric NHL: results from 484 patients of multicenter trial NHL-BFM 95
Seidemann K, et al.
Ann Hematol 2006 Feb:1-10

Hormone replacement therapy is more prevalent among Jewish BRCA1/2 mutation carriers
Sade RB, et al.
Eur J Cancer 2006 Feb

 

Endocrine, Nutritional and Metabolic Diseases

Increased risk of obesity associated with the variant allele of the PPARGC1A Gly482Ser polymorphism in physically inactive elderly men
Ridderstrale M, et al.
Diabetologia 2006 Feb:1-5

Lack of association between TNFalpha gene polymorphism at position -308 and risk of acute rheumatic fever in Turkish patients
Berdeli A, et al.
Scand J Rheumatol 2006 Jan-2006 Feb;35(1):44-7

Study on the relationship between polymorphism of ApoE gene and TCM syndrome type of primary hyperlipemia
Jiang WM, et al.
Zhongguo Zhong Xi Yi Jie He Za Zhi 2006 Jan;26(1):38-41

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol
Kotowski IK, et al.
Am J Hum Genet 2006 Mar;78(3):410-22

Zinc finger protein 202, genetic variation, and HDL cholesterol in the general population
Stene MC, et al.
J Lipid Res 2006 Feb

The GCC repeat length in the 5'UTR of MRP1 gene is polymorphic: a functional characterization of its relevance for cystic fibrosis
Nicolis E, et al.
BMC Med Genet 2006 Feb;7(1):7

Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): Association between a promoter polymorphism and type 1 diabetes in Asian populations
Kawasaki E, et al.
Am J Med Genet A 2006 Feb

Associations between common variation in the aromatase gene promoter region and testosterone concentrations in two young female populations
Petry CJ, et al.
J Steroid Biochem Mol Biol 2006 Feb

Specific HLA DQ Influence on Expression of Anti-Islet Autoantibodies and Progression to Type 1 Diabetes
Redondo MJ, et al.
J Clin Endocrinol Metab 2006 Feb

The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis
Stanke F, et al.
Hum Genet 2006 Feb:1-13

 

Mental Disorders

Family-based association studies of the TCP1 gene and schizophrenia in the Chinese Han population
Tang W, et al.
J Neural Transm 2006 Feb

Association of TPH1 with suicidal behaviour and psychiatric disorders in the Chinese population
Liu X, et al.
J Med Genet 2006 Feb;43(2):e4

CYP2D6 gene test in psychiatric patients and healthy volunteers
Rasmussen JO, et al.
Scand J Clin Lab Invest 2006;66(1):79-86

The 5HTTLPR polymorphism of the serotonin transporter gene is associated with affective temperaments as measured by TEMPS-A
Gonda X, et al.
J Affect Disord 2006 Feb

Analysis of GABRB2 association with schizophrenia in German population with DNA sequencing and one-label extension method for SNP genotyping
Yu Z, et al.
Clin Biochem 2006 Feb

Prefrontal cognition in schizophrenia and bipolar illness in relation to Val66Met polymorphism of the brain-derived neurotrophic factor gene
Rybakowski JK, et al.
Psychiatry Clin Neurosci 2006 Feb;60(1):70-6

No association of the Arg51Gln and Leu72Met polymorphisms of the ghrelin gene with anorexia nervosa or bulimia nervosa
Monteleone P, et al.
Neurosci Lett 2006 Feb

Association between dopamine D4 receptor (DRD4) exon III polymorphism and Neuroticism in the Japanese population
Tochigi M, et al.
Neurosci Lett 2006 Feb

 

Diseases of the Nervous System and Sense Organs

Apolipoprotein E, angiotensin-converting enzyme and kallikrein gene polymorphisms and the risk of Alzheimer's disease and vascular dementia
Wang HK, et al.
J Neural Transm 2006 Feb

HLA-dPB1*0501 is not uniquely associated with opticospinal multiple sclerosis in Japanese patients. Important role of DPB1*0301
Fukazawa T, et al.
Mult Scler 2006 Feb;12(1):19-23

Association of folate with hearing is dependent on the 5,10-methylenetetrahdyrofolate reductase 677C-->T mutation
Durga J, et al.
Neurobiol Aging 2006 Mar;27(3):482-9

Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium
Paisan-Ruiz C, et al.
J Med Genet 2006 Feb;43(2):e9

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis
Bowne SJ, et al.
Invest Ophthalmol Vis Sci 2006 Jan;47(1):34-42

Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients
Abreu-Silva RS, et al.
Braz J Med Biol Res 2006 Feb;39(2):219-26

No association of apolipoprotein E epsilon4 genotype with faster progression or less recovery of relapses in a Spanish cohort of multiple sclerosis
Sedano MI, et al.
Mult Scler 2006 Feb;12(1):13-8

Relationship of apolipoprotein E and age at onset to parkinson disease neuropathology
Ghebremedhin E, et al.
J Neuropathol Exp Neurol 2006 Feb;65(2):116-23

Analysis of case-parent trios at a locus with a deletion allele: association of GSTM1 with autism
Buyske S, et al.
BMC Genet 2006 Feb;7(1):8

Selective effects of the APOE epsilon4 allele on presynaptic cholinergic markers in the neocortex of Alzheimer's disease
Lai MK, et al.
Neurobiol Dis 2006 Feb

 

Diseases of the Circulatory System

Paraoxonase 1 gene Q192R polymorphism affects stroke and myocardial infarction risk
Baum L, et al.
Clin Biochem 2006 Feb

The G protein-coupled receptor kinase 4 gene affects blood pressure in young normotensive twins
Zhu H, et al.
Am J Hypertens 2006 Jan;19(1):61-6

Sequence variations within the genes related to hemostatic imbalance and their impact on coronary artery disease in Turkish population
Taymaz H, et al.
Thromb Res 2006 Feb

Genetic variation in fibrillin-1 gene is not associated with arterial stiffness in apparently healthy individuals
Yasmin, et al.
J Hypertens 2006 Mar;24(3):499-502

{beta}2-adrenoceptor genotype and function affect hemodynamic profile heterogeneity in postural tachycardia syndrome
Jacob G, et al.
Hypertension 2006 Feb

Genetic variations in CC chemokine receptors and hypertension
Zhang M, et al.
Am J Hypertens 2006 Jan;19(1):67-72

Functional significance of KCNH2 (HERG) K897T polymorphism for cardiac repolarization assessed by analysis of T-wave morphology
Linna EH, et al.
Ann Noninvasive Electrocardiol 2006 Jan;11(1):57-62

The role of endothelial nitric oxide synthase (eNOS) genetic variants in European patients with intracranial aneurysms
Krex D, et al.
J Cereb Blood Flow Metab 2006 Feb

Haplotypes of the beta-2 adrenergic receptor associate with high diastolic blood pressure in the Caerphilly prospective study
Binder A, et al.
J Hypertens 2006 Mar;24(3):471-7

IL-6 Haplotypes, Inflammation, and Risk for Cardiovascular Disease in a Multiethnic Dialysis Cohort
Liu Y, et al.
J Am Soc Nephrol 2006 Feb

Common genetic variation in the prothrombin gene, hormone therapy, and incident nonfatal myocardial infarction in postmenopausal women
Hindorff LA, et al.
Am J Epidemiol 2006 Feb

Variability at the APOA5 locus is associated with carotid atherosclerosis with a modifying effect of obesity: the Framingham Heart Study
Elosua R, et al.
J Lipid Res 2006 Feb

The lack of association between four point mutations in the promoter region of the toll-like 4 receptor gene and myocardial infarction
De Staercke C, et al.
Thromb Res 2006 Feb

Pharmacogenetics of the local thrombolysis in patients with deep vein thrombosis
Falkowski A, et al.
Pol Arch Med Wewn 2005 Jul;114(1):644-51

Single Nucleotide Polymorphisms in NOS3 A-922G, T-786C and G894T: A Correlation Study of the Distribution of Their Allelic Combinations with Hypertension in Chinese Han Population
Ma HX, et al.
Yi Chuan 2006 Jan;28(1):3-10

RAAS polymorphisms alter the acute blood pressure response to aerobic exercise among men with hypertension
Blanchard BE, et al.
Eur J Appl Physiol 2006 Feb:1-8

 

Diseases of the Respiratory System

Eotaxin polymorphisms and serum total IgE levels in children with asthma
Raby BA, et al.
J Allergy Clin Immunol 2006 Feb;117(2):298-305

IL-4/IL-13 pathway genetics strongly influence serum IgE levels and childhood asthma
Kabesch M, et al.
J Allergy Clin Immunol 2006 Feb;117(2):269-74

Interferon gamma polymorphisms and their interaction with smoking are associated with lung function
He JQ, et al.
Hum Genet 2006 Feb:1-11

Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function
Young R, et al.
Thorax 2006 Feb

 

Diseases of the Digestive System

A study of candidate genotypes associated with dyspepsia in a U.S. community
Camilleri CE, et al.
Am J Gastroenterol 2006 Feb

The pregnane X receptor locus is associated with susceptibility to inflammatory bowel disease
Dring MM, et al.
Gastroenterology 2006 Feb;130(2):341-8

Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth parameters in early-onset inflammatory bowel disease
Russell RK, et al.
Gut 2006 Feb

 

Diseases of the Genitourinary System

Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure
Di Pasquale E, et al.
J Clin Endocrinol Metab 2006 Feb

Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men
Mullan RJ, et al.
Urology 2006 Feb;67(2):300-5

 

Diseases of the Musculoskeletal System and Connective Tissue

Lack of association between the protein tyrosine phosphatase non receptor 22 (PTPN22) - 620W Allele and systemic sclerosis in the French Caucasian population
Wipff J, et al.
Ann Rheum Dis 2006 Feb

Vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Indian women
Mitra S, et al.
Maturitas 2006 Feb

Chronic periaortitis and HLA-DRB1*03: Another clue to an autoimmune origin
Martorana D, et al.
Arthritis Rheum 2006 Feb;55(1):126-30

Poly(ADP-ribose) polymerase (PARP) polymorphisms associated with nephritis and arthritis in systemic lupus erythematosus
Hur JW, et al.
Rheumatology (Oxford) 2006 Feb

Lack of association of the CD14/C-159T polymorphism with susceptibility and serological activity parameters of rheumatoid arthritis
de la Fontaine L, et al.
Scand J Rheumatol 2006 Jan-2006 Feb;35(1):20-2

Lack of Association of a Functional -94ins/delATTG NFKB1 Promoter Polymorphism with Susceptibility and Clinical Expression of Biopsy-Proven Giant Cell Arteritis in Northwest Spain
Martin J, et al.
J Rheumatol 2006 Feb;33(2):285-8

Association between the HLA-DRB1 gene and clinical features of systemic sclerosis in Korea
Joung CI, et al.
Scand J Rheumatol 2006 Jan-2006 Feb;35(1):39-43

 

Congenital Anomalies

Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome
De Marco P, et al.
Birth Defects Res A Clin Mol Teratol 2006 Feb

Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China
Zhu J, et al.
Am J Med Genet A 2006 Feb

 

Symptoms, Signs and Ill-defined Conditions

Identification of the four most common beta-globin gene mutations in Greek beta-thalassemic patients and carriers by PCR-SSCP: advantages and limitations of the method
Kakavas KV, et al.
J Clin Lab Anal 2006;20(1):1-7

Association between the MLH1 gene and longevity
Kim DJ, et al.
Hum Genet 2006 Feb:1-2

Endothelin-1 gene variants and levels associate with adaptation to hypobaric hypoxia in high-altitude natives
Rajput C, et al.
Biochem Biophys Res Commun 2006 Jan;341(4):1218-24

The Bradykinin {beta}2 receptor (BDKRB2) and endothelial nitric oxide synthase 3(NOS3) genes and endurance performance during Ironman Triathlons
Saunders CJ, et al.
Hum Mol Genet 2006 Feb

 

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