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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
October 19, 2006
Volume 17, No. 16

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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

Frequency of a single nucleotide (A2317G) and 56-bp variable number of tandem repeat polymorphisms within the deoxyribonuclease I gene in five ethnic populations
Fujihara J, et al.
Clin Chem Lab Med 2006;44(10):1188-91

Prevalence of dopamine and 5HT2C receptor polymorphisms in Amerindians and in an urban population from Argentina
Marignac VL & Bianchi NO
Am J Hum Biol 2006 Oct;18(6):822-8

Historic exposure to plague and present-day frequency of CCR5del32 in two isolated island communities of Dalmatia, Croatia
Smoljanovic M, et al.
Croat Med J 2006 Aug;47(4):579-84

Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans
Chandak GR, et al.
BMC Med Genet 2006 Oct;7(1):76

Identification of Novel Mutations in the KCNQ4 Gene of Patients with Nonsyndromic Deafness from Taiwan
Su CC, et al.
Audiol Neurootol 2006 Oct;12(1):20-6

 

Infectious and Parasitic Diseases

Genetic variants of the IgA Fc receptor (FcalphaR, CD89) promoter in chronic hepatitis C patients
Watanabe A, et al.
Immunogenetics 2006 Oct

Association of interferon-gamma gene haplotype in the Chinese population with hepatitis B virus infection
Liu M, et al.
Immunogenetics 2006 Oct

 

Neoplasms

Transforming-growth factor beta(1) Leu10Pro polymorphism and breast cancer morbidity
Gonzalez-Zuloeta Ladd AM, et al.
Eur J Cancer 2006 Oct

Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1, and the risk for lung cancer in never- and ever-smokers
Ryk C, et al.
Lung Cancer 2006 Oct

Androgen receptor mutations are associated with Gleason score in localized prostate cancer
Sanchez D, et al.
BJU Int 2006 Oct

Folate Intake, MTHFR Polymorphisms, and Risk of Esophageal, Gastric, and Pancreatic Cancer: A Meta-analysis
Larsson SC, et al.
Gastroenterology 2006 Oct;131(4):1271-83

Promoter polymorphisms in matrix metalloproteinases and their inhibitors: few associations with breast cancer susceptibility and progression
Lei H, et al.
Breast Cancer Res Treat 2006 Oct

ALDH2 1510 G/A (Glu487Lys) Polymorphism Interaction with Age in Head and Neck Squamous Cell Carcinoma
Hashimoto T, et al.
Tumour Biol 2006 Oct;27(6):334-8

The association of sequence variants in DNA repair and cell cycle genes with cancers of the upper aerodigestive tract
Hall J, et al.
Carcinogenesis 2006 Oct

Influences of chymase and Angiotensin I-converting enzyme gene polymorphisms on gastric cancer risks in Japan
Sugimoto M, et al.
Cancer Epidemiol Biomarkers Prev 2006 Oct;15(10):1929-34

5,10-Methylenetetrahydrofolate Reductase Polymorphisms and Acute Lymphoblastic Leukemia Risk: A Meta-analysis
Pereira TV, et al.
Cancer Epidemiol Biomarkers Prev 2006 Oct;15(10):1956-63

Haplotype-Based Association Studies of IGFBP1 and IGFBP3 with Prostate and Breast Cancer Risk: The Multiethnic Cohort
Cheng I, et al.
Cancer Epidemiol Biomarkers Prev 2006 Oct;15(10):1993-7

Role of single nucleotide polymorphisms and haplotypes in BRCA1 in breast cancer: Czech case-control study
Soucek P, et al.
Breast Cancer Res Treat 2006 Oct

No Influence of 3435C>T ABCB1 (MDR1) Gene Polymorphism on Risk of Adult Acute Myeloid Leukemia and P-glycoprotein Expression in Blast Cells
Jamroziak K, et al.
Ther Drug Monit 2006 Oct;28(5):707-11

Total plasma homocysteine and methylenetetrahydrofolate reductase C677T polymorphism in patients with colorectal carcinoma
Battistelli S, et al.
World J Gastroenterol 2006 Oct;12(38):6128-32

Death receptor 4 variants and colorectal cancer risk
Frank B, et al.
Cancer Epidemiol Biomarkers Prev 2006 Oct;15(10):2002-5

Interactive effects of lifetime alcohol consumption and alcohol and aldehyde dehydrogenase polymorphisms on esophageal cancer risks
Chen YJ, et al.
Int J Cancer 2006 Oct

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
Seal S, et al.
Nat Genet 2006 Oct

 

Endocrine, Nutritional and Metabolic Diseases

Common variants in HNF-1 alpha and risk of type 2 diabetes
Holmkvist J, et al.
Diabetologia 2006 Oct

Detecting of mtDNA Mutations at Position A3243G and G3316A in Patients with type 2 Diabetes Mellitus in Wenzhou
Zhao J, et al.
Yi Chuan 2006 Oct;28(10):1206-12

Gene-environment interactions with CD14 C-260T and their relationship to total serum IgE levels in adults
Williams LK, et al.
J Allergy Clin Immunol 2006 Oct;118(4):851-7

Common variants in the TCF7L2 gene and predisposition to type 2 diabetes in UK European Whites, Indian Asians and Afro-Caribbean men and women
Humphries SE, et al.
J Mol Med 2006 Oct

Haplotypes in the Lipoprotein Lipase Gene Influence Fasting Insulin and Discovery of a New Risk Haplotype
Goodarzi MO, et al.
J Clin Endocrinol Metab 2006 Oct

Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks
Moran CN, et al.
Eur J Hum Genet 2006 Oct

Association of variants of transcription factor 7-like 2 (TCF7L2) with susceptibility to type 2 diabetes in the Dutch Breda cohort
van Vliet-Ostaptchouk JV, et al.
Diabetologia 2006 Oct

H63D homozygotes with hyperferritinaemia: is this genotype, the primary cause of iron overload?
de Diego C, et al.
Eur J Haematol 2006 Oct

Effect of genetic variation in the leptin gene promoter and the leptin receptor gene on obesity risk in a population-based case-control study in Spain
Portoles O, et al.
Eur J Epidemiol 2006;21(8):605-12

 

Diseases of the Blood & Blood-Forming Organ Disorders

PTPN22 620W allele is not associated with aplastic anemia
Graf SA, et al.
Am J Hematol 2006 Oct

 

Mental Disorders

Haplotypes spanning SPEC2, PDZ-G EF2 and ACSL6 genes are associated with schizophrenia
Chen X, et al.
Hum Mol Genet 2006 Oct

Brain-derived neurotrophic factor (BDNF) polymorphisms G196A and C270T are not associated with response to electroconvulsive therapy in major depressive disorder
Kaija H, et al.
Eur Arch Psychiatry Clin Neurosci 2006 Oct

Adolescent girls and criminal activity: Role of MAOA-LPR genotype and psychosocial factors
Sjoberg RL, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Oct

Association between the 5q31.1 gene neurogenin1 and schizophrenia
Fanous AH, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Oct

Evaluation of potential gene-gene interactions for attention deficit hyperactivity disorder in the Han Chinese population
Qian Q, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Oct

Family-based association study between brain-derived neurotrophic factor gene polymorphisms and attention deficit hyperactivity disorder in UK and Taiwanese samples
Xu X, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Oct

Serotonin transporter gene variation impacts innate fear processing: acoustic startle response and emotional startle
Brocke B, et al.
Mol Psychiatry 2006 Oct

Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses
Keen-Kim D, et al.
Hum Mol Genet 2006 Oct

Mutation screen of the GAD2 gene and association study of alcoholism in three populations
Lappalainen J, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Oct

A promoter polymorphism (-839 C > T) at the dopamine transporter gene is associated with attention deficit/hyperactivity disorder in Brazilian children
Genro JP, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Oct

No association between ADRA2A polymorphisms and schizophrenia
Clark DA, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Oct

 

Diseases of the Nervous System and Sense Organs

G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia
Pchelina SN, et al.
Mov Disord 2006 Oct

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity
Huculak C, et al.
Am J Med Genet A 2006 Oct

Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease
Golbe LI, et al.
Am J Med Genet B Neuropsychiatr Genet 2006 Oct

COMT genotype, gender and cognition in community-dwelling, older adults
O'hara R, et al.
Neurosci Lett 2006 Oct

The lymphotoxin Cys13Arg polymorphism and cognitive functioning in individuals with schizophrenia Dickerson F, et al.
Schizophr Res 2006 Oct

Polymorphism of CGG Repeats in the FRAXE Fragile Site in the Qinba Mountain area Children and Its Association with Intelligence
Niu YB, et al.
Yi Chuan 2006 Oct;28(10):1219-23

Regional brain atrophy in cognitively intact adults with a single APOE epsilon4 allele
Wishart HA, et al.
Neurology 2006 Oct;67(7):1221-4

 

Diseases of the Circulatory System

Endothelial Nitric Oxide Gene T-786C Polymorphism and Subarachnoid Hemorrhage in Korean Population
Song MK, et al.
J Korean Med Sci 2006 Oct;21(5):922-6

Apolipoprotein E epsilon4 allele is associated with the volume of white matter changes in patients with lacunar infarcts
Wen HM, et al.
Eur J Neurol 2006 Nov;13(11):1216-20

Effects of lymphotoxin-alpha gene and galectin 2 gene polymorphisms on inflammatory biomarkers, cellular adhesion molecules, and risk of coronary heart disease
Asselbergs FW, et al.
Clin Sci (Lond) 2006 Oct

Update on evidence for a genetic predisposition to cerebral vasospasm
Khurana VG, et al.
Neurosurg Focus 2006;21(3):E3

Apolipoprotein B gene 3'VNTR polymorphism: association with plasma lipids and coronary heart disease in Han Chinese
Yan SK, et al.
Clin Chem Lab Med 2006;44(10):1199-205

 

Diseases of the Digestive System

Serotonin transporter gene polymorphism and irritable bowel syndrome
Park JM, et al.
Neurogastroenterol Motil 2006 Nov;18(11):995-1000

TUCAN (CARD8) Genetic Variants and Inflammatory Bowel Disease
McGovern DP, et al.
Gastroenterology 2006 Oct;131(4):1190-6

 

Diseases of the Genitourinary System

Effects of genetic polymorphisms of cyp3a4, cyp3a5 and mdr1 on cyclosporine pharmacokinetics after renal transplantation
Hu YF, et al.
Clin Exp Pharmacol Physiol 2006 Nov;33(11):1093-8

The influence of genetic polymorphisms of cytochrome P450 3A5 and ABCB1 on starting dose- and weight-standardized tacrolimus trough concentrations after kidney transplantation in relation to renal function
Mourad M, et al.
Clin Chem Lab Med 2006;44(10):1192-8

High prevalence of ACE DD genotype among north Indian end stage renal disease patients
Tripathi G, et al.
BMC Nephrol 2006 Oct;7(1):15

MDR-1 gene polymorphisms and clinical course of steroid-responsive nephrotic syndrome in children
Wasilewska A, et al.
Pediatr Nephrol 2006 Oct

 

Complications of Pregnancy, Childbirth, and the Puerperium

Association of homocysteine, vitamin B(12), folic acid, and MTHFR C677T in patients with a thrombotic event or recurrent fetal loss
Nadir Y, et al.
Ann Hematol 2006 Oct

Association of -592C/A, -819C/T and -1082A/G interleukin-10 promoter polymorphisms with idiopathic recurrent spontaneous abortion
Zammiti W, et al.
Mol Hum Reprod 2006 Oct

 

Diseases of the Musculoskeletal System and Connective Tissue

Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis
Zhang Y, et al.
Rheumatology (Oxford) 2006 Oct

SAA1 gene polymorphisms and the risk of AA amyloidosis in Japanese patients with rheumatoid arthritis
Ajiro J, et al.
Mod Rheumatol 2006;16(5):294-9

A functional single nucleotide polymorphism in the vitamin-K-dependent gamma-glutamyl carboxylase gene (Arg325Gln) is associated with bone mineral density in elderly Japanese women
Kinoshita H, et al.
Bone 2006 Oct

 

Congenital Anomalies

Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation
Carmichael SL, et al.
Am J Med Genet A 2006 Oct

Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions
Boyles AL, et al.
Environ Health Perspect 2006 Oct;114(10):1547-52

 

Certain Conditions Originating in the Perinatal Period

Polymorphisms in the Angiotensin Converting Enzyme Gene and Growth in the First Year of Life
Hindmarsh PC, et al.
Ann Hum Genet 2006 Oct

 

Symptoms, Signs and Ill-defined Conditions

1173C>T Polymorphism in VKORC1 Modulates the Required Warfarin Dose
Kosaki K, et al.
Pediatr Cardiol 2006 Oct

Comparison of polymorphisms in genes involved in polycyclic aromatic hydrocarbon metabolism with urinary phenanthrene metabolite ratios in smokers
Hecht SS, et al.
Cancer Epidemiol Biomarkers Prev 2006 Oct;15(10):1805-1

 

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