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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 9, 2006
Volume 16, No. 6

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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

Ethnicity affects the distribution of delta-aminolevulinic acid dehydratase (ALAD) genetic variants
Montenegro MF, et al.
Clin Chim Acta 2006 Jan

BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China
Song C, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Feb;23(1):27-31

HLA-A, HLA-B, and HLA-DRB1 alleles and haplotypes in Naxi and Han populations in southwestern China (Yunnan province)
Shi L, et al.
Tissue Antigens 2006 Jan;67(1):38-44

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
Kure S, et al.
Hum Mutat 2006 Jan

 

Infectious and Parasitic Diseases

Human leukocyte antigen haplotypes in the genetic control of immune response to measles-mumps-rubella vaccine
Ovsyannikova IG, et al.
J Infect Dis 2006 Mar;193(5):655-63

Repeat-Region Polymorphisms in the Gene for the Dendritic Cell-Specific Intercellular Adhesion Molecule-3-Grabbing Nonintegrin-Related Molecule: Effects on HIV-1 Susceptibility
Liu H, et al.
J Infect Dis 2006 Mar;193(5):698-702

Lack of association between microsomal triglyceride transfer protein gene polymorphism and liver steatosis in HCV-infected patients
Petit JM, et al.
Mol Genet Metab 2006 Jan

 

Neoplasms

Polymorphisms in insulin-related genes predispose to specific KRAS2 and TP53 mutations in colon cancer
Samowitz WS, et al.
Mutat Res 2006 Jan

BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations
Ahn SH, et al.
Cancer Lett 2006 Jan

The correlation between polymorphisms of matrix metalloproteinase-2 and -9 genes and colorectal cancer of Chinese Patients
Xu E, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Feb;23(1):78-81

The association between the interleukin-1 polymorphisms and gastric cancer risk depends on the family history of gastric carcinoma in the study population
Starzynska T, et al.
Am J Gastroenterol 2006 Feb;101(2):248-54

Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma
Lan Q, et al.
Blood 2006 Jan

A Correlation Between EGFR Gene Mutation Status and Bronchioloalveolar Carcinoma Features in Japanese Patients with Adenocarcinoma
Haneda H, et al.
Jpn J Clin Oncol 2006 Jan

Mutational analysis of the kinase domain of MYLK2 gene in common human cancers
Soung YH, et al.
Pathol Res Pract 2006 Jan

Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism predicts the risk of gastrointestinal toxicity and fatigue induced by irinotecan-based chemotherapy
Massacesi C, et al.
Cancer 2006 Feb

Detection of BRAF mutation in thyroid papillary carcinomas by mutant allele-specific PCR amplification (MASA)
Sapio MR, et al.
Eur J Endocrinol 2006 Feb;154(2):341-8

CHEK2*1100delC is not an important high-risk gene in families with hereditary prostate cancer in southern Sweden
Wagenius M, et al.
Scand J Urol Nephrol 2006;40(1):23-5

K-ras mutations in incident sporadic colorectal adenomas
Barry EL, et al.
Cancer 2006 Feb

Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloid leukemia (AML)
Thiede C, et al.
Blood 2006 Feb

HER-2 codon 655 polymorphism in cervical carcinogenesis
Ueda M, et al.
Int J Gynecol Cancer 2006 Jan-2006 Feb;16(1):325-8

Two germ line polymorphisms of the tumour suppressor gene p53 may influence the biology of chronic lymphocytic leukaemia
Kochethu G, et al.
Leuk Res 2006 Feb

Association between genetic polymorphisms in methylentetrahydrofolate reductase and risk of lung cancer
Zhang XM, et al.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2005 Dec;27(6):700-3

The XPD Asp(312)Asn and Lys(751)Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk
Jiao L, et al.
Cancer Lett 2006 Feb

Is there a folate-related gene-environment interaction in the etiology of childhood acute lymphoblastic leukemia?
Milne E, et al.
Int J Cancer 2006 Jan

The endothelial nitric oxide synthase Glu-298-Asp polymorphism and its mRNA expression in the peripheral blood of patients with prostate cancer and benign prostatic hyperplasia
Marangoni K, et al.
Cancer Detect Prev 2006 Jan

 

Endocrine, Nutritional and Metabolic Diseases

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
Cohen JC, et al.
Proc Natl Acad Sci U S A 2006 Jan

Effect of polymorphisms in the PPARGC1A gene on body fat in Asian Indians
Vimaleswaran KS, et al.
Int J Obes (Lond) 2006 Jan

No evidence for a major effect of two common polymorphisms of the catalase gene in type 1 diabetes susceptibility
Pask R, et al.
Diabetes Metab Res Rev 2006 Feb

Association of angiotensin-converting enzyme 2 gene A/G polymorphism and elevated blood pressure in Chinese patients with metabolic syndrome
Zhong J, et al.
J Lab Clin Med 2006 Feb;147(2):91-5

Hepatic lipase C-514T polymorphism and its association with high-density lipoprotein cholesterol level in Tehran
Daneshpour MS, et al.
Eur J Cardiovasc Prev Rehabil 2006 Feb;13(1):101-3

The association between HLA class II haplotype with Graves' disease in Thai population
Wongsurawat T, et al.
Tissue Antigens 2006 Jan;67(1):79-83

 

Diseases of the Blood and Blood-Forming Organs Disorders

Effect of platelet antigen polymorphism on platelet inhibition by aspirin, clopidogrel, or their combination
Cooke GE, et al.
J Am Coll Cardiol 2006 Feb;47(3):541-6

 

Mental Disorders

Pilot study of the G-protein beta3 subunit gene (C825T) polymorphism and clinical response to Olanzapine or Olanzapine-related weight gain in persons with schizophrenia
Bishop JR, et al.
Med Sci Monit 2006 Jan;12(2):BR47-50

Limitation of cigarette consumption by CYP2A6*4, *7 and *9 polymorphisms
Minematsu N, et al.
Eur Respir J 2006 Feb;27(2):289-92

Allelic variation of a functional polymorphism in the serotonin transporter gene and depression in Parkinson's disease
Burn DJ, et al.
Parkinsonism Relat Disord 2006 Feb

Association study of two serotonin 1A receptor gene polymorphisms and fluoxetine treatment response in Chinese major depressive disorders
Yu YW, et al.
Eur Neuropsychopharmacol 2006 Feb

HFE Genotypes in Decompensated Alcoholic Liver Disease: Phenotypic Expression and Comparison with Heavy Drinking and with Normal Controls
Gleeson D, et al.
Am J Gastroenterol 2006 Feb;101(2):304-10

The brain-derived neurotrophic factor Val66Met polymorphism is associated with age-related change in reasoning skills
Harris SE, et al.
Mol Psychiatry 2006 Jan

Brain-Derived Neurotrophic Factor-5-HTTLPR Gene Interactions and Environmental Modifiers of Depression in Children
Kaufman J, et al.
Biol Psychiatry 2006 Feb

 

Diseases of the Nervous System and Sense Organs

Polymorphisms of neural nicotinic cholinergic receptor alpha 4 gene of Chinese
Zhang L, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Feb;23(1):55-8

Age-related macular degeneration: its association with the epsilon4 allele of the apolipoprotein E gene
Asensio-Sanchez VM, et al.
Arch Soc Esp Oftalmol 2006 Jan;81(1):9-12

Daytime sleepiness and the COMT val158met polymorphism in patients with Parkinson disease
Rissling I, et al.
Sleep 2006 Jan;29(1):108-11

Association of the polymorphism in alpha-2 macroglobulin gene with essential tremor and Parkinson's disease
Xiao Y & Zhang B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Feb;23(1):84-5

UCHL-1 is not a Parkinson's disease susceptibility gene
Healy DG, et al.
Ann Neurol 2006 Jan

Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian population
Zh Nevrol Psikhiatr Im S S Korsakova 2006;106(1):4-13

Association of the -1438G/A Polymorphism of the 5-HT(2A )Receptor Gene with Obstructive Sleep Apnea Syndrome
Bayazit YA, et al.
ORL J Otorhinolaryngol Relat Spec 2006 Jan;68(3):123-8

Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD)
Baird PN, et al.
Hum Mutat 2006 Feb

 

Diseases of the Circulatory System

The correlation between polymorphism at position -511C/T in the promoter region of interleukin 1B and the severity of coronary heart disease
Zhang Y, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Feb;23(1):86-8

Apolipoprotein E genotype and statins affect CRP levels through independent and different mechanisms: AGES-Reykjavik Study
Eiriksdottir G, et al.
Atherosclerosis 2006 Jan

Decreased Frequencies of ABCA1 Polymorphisms R219K and V771M in Hungarian Patients with Cerebrovascular and Cardiovascular Diseases
Andrikovics H, et al.
Cerebrovasc Dis 2006 Jan;21(4):254-9

Evaluation of the angiotensin-converting enzyme insertion/deletion polymorphism and the risk of ischaemic stroke
Tuncer N, et al.
J Clin Neurosci 2006 Jan

Lack of Association of Lobar Intracerebral Hemorrhage with Apolipoprotein E Genotype in an Unselected Population
Seifert T, et al.
Cerebrovasc Dis 2006 Jan;21(4):266-70

Thrombomodulin Gene Polymorphisms and Haplotypes and the Risk of Cardiovascular Events. A Prospective Follow-Up Study
Auro K, et al.
Arterioscler Thromb Vasc Biol 2006 Feb

Protective effect of the G-765C COX-2 polymorphism on subclinical atherosclerosis and inflammatory markers in asymptomatic subjects with cardiovascular risk factors
Orbe J, et al.
Clin Chim Acta 2006 Feb

Drug-Gene Interaction Between the Insertion/Deletion Polymorphism of the Angiotensin-Converting Enzyme Gene and Antihypertensive Therapy (February)
Schelleman H, et al.
Ann Pharmacother 2006 Jan

Matrix Metalloproteinase 2 Polymorphisms in a Caucasian Population with Abdominal Aortic Aneurysm
Hinterseher I, et al.
J Surg Res 2006 Feb

Apolipoprotein E polymorphism and preclinical carotid artery disease in untreated hypertensive men
Bleil ME, et al.
Eur J Cardiovasc Prev Rehabil 2006 Feb;13(1):98-100

The E23K polymorphism in Kir6.2 gene and coronary heart disease
Xiong C, et al.
Clin Chim Acta 2006 Jan

 

Diseases of the Respiratory System

Antioxidant intake, GSTM1 polymorphism and pulmonary function in healthy young adults
Tujague J, et al.
Eur Respir J 2006 Feb;27(2):282-8

CD14 Promoter Polymorphisms in Atopic Families: Implications for Modulated Allergen-Specific Immunoglobulin E and G1 Responses
Jackola DR, et al.
Int Arch Allergy Immunol 2006 Jan;139(3):217-24

Limited B2-adrenoceptor haplotypes display different agonist mediated airway responses in asthmatics
van Veen A, et al.
Respir Res 2006 Jan;7(1):19

Study on relationship between polymorphism sites of TIM-3 and allergic asthma in a population of adult Hans from Hubei province of China
Zhang C, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006 Feb;23(1):74-7

Associations of Tumor Necrosis Factor G-308A with Childhood Asthma and Wheezing
Li YF, et al.
Am J Respir Crit Care Med 2006 Feb

Genetic Association Analysis of Functional Impairment in Chronic Obstructive Pulmonary Disease
Hersh CP, et al.
Am J Respir Crit Care Med 2006 Feb

 

Diseases of the Digestive System

Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men
Friedrichs F, et al.
Hum Genet 2006 Jan:1-7

Allograft TNFbeta and IL16 polymorphisms influence HCV recurrence and severity after liver transplantation
Kimball P, et al.
Liver Transpl 2006 Jan;12(2):247-52

Contribution of IBD5 Locus to Clinical Features of IBD Patients
Latiano A, et al.
Am J Gastroenterol 2006 Feb;101(2):318-25

DLG5 variants contribute to Crohn disease risk in a Canadian population
Newman WG, et al.
Hum Mutat 2006 Jan

 

Diseases of the Genitourinary System

Polymorphisms in the promoter regions of the matrix metalloproteinases-7, -9 and the risk of endometriosis and adenomyosis in China
Shan K, et al.
Mol Hum Reprod 2006 Feb

An alpha-1 chain of type I collagen Sp1-binding site polymorphism in women suffering from stress urinary incontinence
Skorupski P, et al.
Am J Obstet Gynecol 2006 Feb;194(2):346-50

 

Complications of Pregnancy, Childbirth, and the Puerperium

Thrombophilic mutations in Iranian patients with infertility and recurrent spontaneous abortion
Behjati R, et al.
Ann Hematol 2006 Feb:1-4

Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and changes in homocysteine concentrations in women with idiopathic recurrent pregnancy losses
Mtiraoui N, et al.
Reproduction 2006 Feb;131(2):395-401

Association between a functional dopamine D4 receptor promoter region polymorphism (-C521T) and pre-eclampsia: a family-based study
Korobochka R, et al.
Mol Hum Reprod 2006 Feb

Functional variants of the lipoprotein lipase gene and the risk of preeclampsia among non-Hispanic Caucasian women
Zhang C, et al.
Clin Genet 2006 Jan;69(1):33-9

 

Diseases of the Skin and Subcutaneous Tissue

Chymase Gene (CMA1) Polymorphisms in Dutch and Japanese Sarcoidosis Patients
Kruit A, et al.
Respiration 2006 Jan

Polymorphisms within the CTLA4 gene are associated with infant atopic dermatitis
Jones G, et al.
Br J Dermatol 2006 Mar;154(3):467-71

 

Diseases of the Musculoskeletal System and Connective Tissue

Annexin A5 polymorphism (-1C>T) and the presence of anti-annexin A5 antibodies in the antiphospholipid syndrome
de Laat B, et al.
Ann Rheum Dis 2006 Jan

Association between PADI4 and rheumatoid arthritis: a meta-analysis
Iwamoto T, et al.
Rheumatology (Oxford) 2006 Jan

Lack of Correlation between the Vitamin D Receptor Fokl Start Codon Polymorphism and Bone Mineral Density in Patients with Crohn's Disease
Bregenzer N, et al.
Exp Clin Endocrinol Diabetes 2006 Jan;114(1):1-5

Association of a non-synonymous single-nucleotide polymorphism of DNASEI with SLE susceptibility
Bodano A, et al.
Rheumatology (Oxford) 2006 Jan

Vitamin D receptor gene polymorphism in rheumatoid arthritis and associated osteoporosis
Rass P, et al.
Rheumatol Int 2006 Jan:1-8

Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women
Valdes AM, et al.
Arthritis Rheum 2006 Feb;54(2):533-9

Association between a variation in LRCH1 and knee osteoarthritis: A genome-wide single-nucleotide polymorphism association study using DNA pooling
Spector TD, et al.
Arthritis Rheum 2006 Jan;54(2):524-32

A new classification of HLA-DRB1 alleles differentiates predisposing and protective alleles for rheumatoid arthritis structural severity
Gourraud PA, et al.
Arthritis Rheum 2006 Jan;54(2):593-9

Nuclear receptor coactivator-3 alleles are associated with serum bioavailable testosterone, insulin-like growth factor-1, and vertebral bone mass in men
Sheu YT, et al.
J Clin Endocrinol Metab 2006 Jan;91(1):307-12

 

Symptoms, Signs and Ill-defined Conditions

A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y
Plant LD, et al.
J Clin Invest 2006 Feb;116(2):430-5

C47T polymorphism in manganese superoxide dismutase (MnSOD), antioxidant intake and survival
Genkinger JM, et al.
Mech Ageing Dev 2006 Feb

Influence of glutathione S-transferase A1 polymorphism on the pharmacokinetics of busulfan
Kusama M, et al.
Clin Chim Acta 2006 Jan

Hydrochlorothiazide efficacy and polymorphisms in ACE, ADD1 and GNB3 in healthy, male volunteers
Vormfelde SV, et al.
Eur J Clin Pharmacol 2006 Feb:1-7

 

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