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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
May 29, 2008
Volume 20, No. 22

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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

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme
Couce ML, et al.
J Inherit Metab Dis 2008 May

Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in  various carrier screening populations
Mikula M, et al.
Genet Med 2008 May;10(5):349-52

G6PD deficient alleles and haplotype analysis of human G6PD locus in Sao Tome e Principe (West Africa)
Manco L, et al.
Hum Biol 2007 Dec;79(6):679-86

Variants of the mannose-binding lectin gene in the benin population: heterozygosity for the p.G57E allele may confer a selective advantage
Dossou-Yovo OP, et al.
Hum Biol 2007 Dec;79(6):687-97

ACE and LRPAP1 insertion-deletion polymorphisms in a northern Ivory Coast population
Santovito A, et al.
Hum Biol 2007 Dec;79(6):699-706

 

Infectious and Parasitic Diseases

Association Between a Polymorphism in the IL-12p40 Gene and Cytomegalovirus Reactivation After Kidney Transplantation
Hoffmann TW, et al.
Transplantation 2008 May;85(10):1406-11

A pilot case-control association study of cytokine polymorphisms in Brazilian women presenting with HPV-related cervical lesions
Fernandes AP, et al.
Eur J Obstet Gynecol Reprod Biol 2008 May

Independent Effects of Genetic Variations in Mannose-Binding Lectin Influence the Course of HIV Disease: The Advantage of Heterozygosity for Coding Mutations
Catano G, et al.
J Infect Dis 2008 May

Immunogenetic Correlates of Neisseria gonorrhoeae Infection in Adolescents
Geisler WM, et al.
Sex Transm Dis 2008 May

Protein C rs2069912 C allele is associated with increased mortality from severe sepsis in North Americans of East Asian ancestry
Russell JA, et al.
Hum Genet 2008 May

HLA and response to booster hepatitis B vaccination in anti-HBs-seronegative adolescents who had received primary infantile vaccination
Lin HH, et al.
Vaccine 2008 May

 

Neoplasms

Contribution of mutations in ATM to breast cancer development in the Czech population
Soukupova J, et al.
Oncol Rep 2008 Jun;19(6):1505-10

A multigenic approach to evaluating prostate cancer risk in a systematic replication study
Hsu FC, et al.
Cancer Genet Cytogenet 2008 Jun;183(2):94-8

Genetic predictors of glucocorticoid-induced hypertension in children with acute  lymphoblastic leukemia
Kamdem LK, et al.
Pharmacogenet Genomics 2008 Jun;18(6):507-14

Shorter CAG repeats in androgen receptor and non-GG genotypes in prostate-specific antigen loci are associated with decreased risk of benign prostatic hyperplasia and prostate cancer
Das K, et al.
Cancer Lett 2008 May

Increased risk of gastric cancer in Japanese subjects is associated with microsatellite polymorphisms in the heme oxygenase-1 and the inducible nitric oxide synthase gene promoters
Sawa T, et al.
Cancer Lett 2008 May

Association of interleukin-6 (-174G>C) promoter polymorphism with risk of squamous cell esophageal cancer and tumor location: An exploratory study
Upadhyay R, et al.
Clin Immunol 2008 May

The Polymorphism of XRCC3 Codon 241 and AFB1-Related Hepatocellular Carcinoma in  Guangxi Population, China
Long XD, et al.
Ann Epidemiol 2008 May

Paraoxonase 1 (PON1) polymorphisms and prostate cancer in the CPS-II Nutrition Cohort
Stevens VL, et al.
Prostate 2008 May

Meta-analysis and pooled analysis of GSTM1 and CYP1A1 polymorphisms and oral and  pharyngeal cancers: a HuGE-GSEC review
Varela-Lema L, et al.
Genet Med 2008 May

PSA and Androgen-Related Gene (AR, CYP17, and CYP19) Polymorphisms and the Risk of Adenocarcinoma at Prostate Biopsy
Dos Santos RM, et al.
DNA Cell Biol 2008 May

MBD4 tagging SNPs and lung cancer
Miao R, et al.
Lung Cancer 2008 May

Multiple ADH genes are associated with upper aerodigestive cancers
Hashibe M, et al.
Nat Genet 2008 May

Interaction of the Cytochrome P4501A2, SULT1A1 and NAT Gene Polymorphisms with Smoking and Dietary Mutagen Intake in Modification of the Risk of Pancreatic Cancer
Suzuki H, et al.
Carcinogenesis 2008 May

Lack of Association between Prohibitin 3' Untranslated Region C-->T Polymorphism  and Breast Cancer in a Turkish Population
Karakus N, et al.
DNA Cell Biol 2008 May

The role of MYH gene in genetic predisposition to colorectal cancer: Another piece of the puzzle
Avezzu A, et al.
Cancer Lett 2008 May

Comparative analysis of SNP in estrogen-metabolizing enzymes for ovarian, endometrial, and breast cancers in Novosibirsk, Russia
Gulyaeva LF, et al.
Adv Exp Med Biol 2008;617:359-66

Methylenetetrahydrofolate Reductase C677T Gene Polymorphism in Osteosarcoma and Chondrosarcoma Patients
Ozger H, et al.
Folia Biol (Praha) 2008;54(2):53-7

 

Endocrine, Nutritional and Metabolic Diseases

Graves' Disease in Brazilian Children and Adults: Lack of Genetic Association with CTLA-4 +49A>G Polymorphism
Namo Cury A, et al.
Horm Res 2008 May;70(1):36-41

Exon sequencing and association analysis of polymorphisms in TCF7L2 with type 2 diabetes in a Chinese population
Ren Q, et al.
Diabetologia 2008 May

The influence of adiponectin gene polymorphism on the pioglitazone response in the Chinese with type 2 diabetes
Li Z, et al.
Diabetes Obes Metab 2008 May

Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2  Diabetes and fasting glucose; The NHLBI Family Heart Study
Laramie JM, et al.
BMC Med Genet 2008 May;9(1):46

Lack of association between uncoupling protein-2 Ala55Val polymorphism and incident diabetes in the atherosclerosis risk in communities study
Bielinski SJ, et al.
Acta Diabetol 2008 May

The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies
Cauchi S, et al.
BMC Med Genet 2008 May;9(1):45

Autoantibodies to islet antigen-2 are associated with HLA-DRB1*07 and DRB1*09 haplotypes as well as DRB1*04 at onset of type 1 diabetes: the possible role of HLA-DQA in autoimmunity to IA-2
Williams AJ, et al.
Diabetologia 2008 May

An RBP4 promoter polymorphism increases risk of type 2 diabetes
van Hoek M, et al.
Diabetologia 2008 May

Lack of Association of LRP5 and LRP6 Polymorphisms with Type 2 Diabetes Mellitus  in the Japanese Population
Zenibayashi M, et al.
Endocr J 2008 May

Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus
Chitturi S, et al.
Clin Endocrinol (Oxf) 2008 May

Absence of evidence for an association between resistin gene variants and insulin resistance in an Asian population with low and high blood pressure
Kimbell JL, et al.
Diabetes Res Clin Pract 2008 May

 

Mental Disorders

A case-control association study of the PDLIM5 gene and bipolar disorder in a Sardinian sample
Squassina A, et al.
Psychiatr Genet 2008 Jun;18(3):128-32

Analysis of protocadherin alpha gene deletion variant in bipolar disorder and schizophrenia
Lachman HM, et al.
Psychiatr Genet 2008 Jun;18(3):110-5

A family-based association study of the myelin-associated glycoprotein and 2',3'-cyclic nucleotide 3'-phosphodiesterase genes with schizophrenia
Voineskos AN, et al.
Psychiatr Genet 2008 Jun;18(3):143-6

Common genetic variations in human brain-specific tryptophan hydroxylase-2 and response to antidepressant treatment
Tzvetkov MV, et al.
Pharmacogenet Genomics 2008 Jun;18(6):495-506

-141C Ins/Del polymorphism of the dopamine D2 receptor gene is associated with schizophrenia in a Spanish population
Lafuente A, et al.
Psychiatr Genet 2008 Jun;18(3):122-7

Association study of the interleukin-1 gene complex and tumor necrosis factor alpha gene with suicide attempts
Saiz PA, et al.
Psychiatr Genet 2008 Jun;18(3):147-50

PDLIM5 and susceptibility to bipolar disorder: a family-based association study and meta-analysis
Shi J, et al.
Psychiatr Genet 2008 Jun;18(3):116-21

Polymorphisms in inflammation-related genes are associated with susceptibility to major depression and antidepressant response
Wong ML, et al.
Mol Psychiatry 2008 May

GENetic and clinical Predictors Of treatment response in Depression: the GenPod randomised trial protocol
Thomas L, et al.
Trials 2008 May;9(1):29

Association analysis of monoamine oxidase A gene and bipolar affective disorder in Han Chinese
Lin YM, et al.
Behav Brain Funct 2008 May;4(1):21

Association study of GSK3 gene polymorphisms with schizophrenia and clozapine response
Souza RP, et al.
Psychopharmacology (Berl) 2008 May

The interaction of DRD2 and violent victimization on depression: An analysis by gender and race
Vaske J, et al.
J Affect Disord 2008 May

5-ht2c receptor and mao-a interaction analysis: no association with suicidal behaviour in bipolar patients
De Luca V, et al.
Eur Arch Psychiatry Clin Neurosci 2008 May

Genetics of bipolar disorder: focus on BDNF Val66Met polymorphism
Fan J & Sklar P
Novartis Found Symp 2008;289:60-72; discussion 72-3, 87-93

           

 

Diseases of the Nervous System and Sense Organs

Association study of the commonly recognized breakpoints in chromosome 15q11-q13  in Japanese autistic patients
Kato C, et al.
Psychiatr Genet 2008 Jun;18(3):133-6

Apolipoprotein E genotype and risk for development of cataract and age-related macular degeneration
Utheim OA, et al.
Acta Ophthalmol 2008 Jun;86(4):401-3

An analysis of the entire SOD1 gene in sporadic ALS
Luquin N, et al.
Neuromuscul Disord 2008 May

Variations of the perforin gene in patients with multiple sclerosis
Cappellano G, et al.
Genes Immun 2008 May

Association of ABCB1 genetic variants 3435C>T and 2677G>T to ABCB1 mRNA and protein expression in brain tissue from refractory epilepsy patients
Mosyagin I, et al.
Epilepsia 2008 May

Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism
Maussion G, et al.
Hum Mol Genet 2008 May

Genetic association to the amyloid plaque associated protein gene COL25A1 in Alzheimer's disease
Forsell C, et al.
Neurobiol Aging 2008 May

 

Diseases of the Circulatory System

Angiotensinogen and ACE gene polymorphisms and risk of atrial fibrillation in the general population
Ravn LS, et al.
Pharmacogenet Genomics 2008 Jun;18(6):525-33

Common variation in cytochrome P450 epoxygenase genes and the risk of incident nonfatal myocardial infarction and ischemic stroke
Marciante KD, et al.
Pharmacogenet Genomics 2008 Jun;18(6):535-43

Association of human carboxypeptidase E exon5 gene polymorphisms with angiographical characteristics of coronary atherosclerosis in a Chinese population
Wang J, et al.
Acta Pharmacol Sin 2008 Jun;29(6):736-44

Interactions among genetic variants from contractile pathway of vascular smooth muscle cell in essential hypertension susceptibility of Chinese Han population
Zhao Q, et al.
Pharmacogenet Genomics 2008 Jun;18(6):459-66

C-reactive protein genotypes associated with circulating C-reactive protein but not with angiographic coronary artery disease: the LURIC study
Grammer TB, et al.
Eur Heart J 2008 May

A Human Fatty Acid Amide Hydrolase (FAAH) Functional Gene Variant Is Associated With Lower Blood Pressure in Young Males
Sarzani R, et al.
Am J Hypertens 2008 May

Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension
Phillips JA 3rd, et al.
Genet Med 2008 May;10(5):359-65

K(ATP) channel polymorphism is associated with left ventricular size in hypertensive individuals: a large-scale community-based study
Reyes S, et al.
Hum Genet 2008 May

Association of the 894G>T polymorphism in the endothelial nitric oxide synthase gene with risk of acute myocardial infarction
Andrikopoulos GK, et al.
BMC Med Genet 2008 May;9(1):43

Are Prothrombotic Variants of Platelet Glycoprotein Receptor Polymorphisms Involved in the Pathogenesis of Thrombotic Microangiopathies?
Sucker C, et al.
Clin Appl Thromb Hemost 2008 May

Angiotensin-Converting Enzyme Insertion/Deletion Gene Polymorphic Variant as a Marker of Coronary Artery Disease: A Meta-analysis
Zintzaras E, et al.
Arch Intern Med 2008 May;168(10):1077-89

 

Diseases of the Respiratory System

Association between cytochrome P450 3A5 polymorphism and the lung function in Saskatchewan grain workers
Seo T, et al.
Pharmacogenet Genomics 2008 Jun;18(6):487-93

Vitamin D-receptor polymorphisms and non-tuberculous mycobacterial lung disease in Korean patients
Park S, et al.
Int J Tuberc Lung Dis 2008 Jun;12(6):698-700

Interleukin-12 Receptor beta1 Polymorphisms and Nontuberculous Mycobacterial Lung Diseases
Park HY, et al.
Lung 2008 May

Mannose-binding lectin gene polymorphisms and the development of coal workers' pneumoconiosis in Japan
Wang X, et al.
Am J Ind Med 2008 May

SLC11A1 Polymorphisms Are Associated with the Risk of Chronic Obstructive Pulmonary Disease in a Korean Population
Kim EJ, et al.
Biochem Genet 2008 May

Factor V Leiden mutation is associated with improved 30-day survival in patients  with acute respiratory distress syndrome
Adamzik M, et al.
Crit Care Med 2008 May

Alpha1-antitrypsin deficiency carriers, tobacco smoke, chronic obstructive pulmonary disease, and lung cancer risk
Yang P, et al.
Arch Intern Med 2008 May;168(10):1097-103

 

Diseases of the Digestive System

ATG16L1 and IL23 receptor (IL23R) genes are associated with disease susceptibility in Hungarian CD patients
Lakatos PL, et al.
Dig Liver Dis 2008 May

Increased plasma concentration of surfactant protein D in chronic periodontitis independent of SFTPD genotype: potential role as a biomarker
Glas J, et al.
Tissue Antigens 2008 May

Association between combinations of glutathione-S-transferase M1, T1 and P1 genotypes and non-alcoholic fatty liver disease
Hori M, et al.
Liver Int 2008 May

Polymorphisms in the tumor necrosis factor/lipopolysaccharides pathway in Crohn disease in the Jewish Ashkenazi population
Silbermintz A, et al.
J Pediatr Gastroenterol Nutr 2008 May;46(5):546-50

 

Diseases of the Genitourinary System

High prevalence of HFE gene mutations in hemodialysis patients
Mennella G, et al.
Minerva Urol Nefrol 2008 Jun;60(2):81-4

An IL-6 haplotype on human chromosome 7p21 confers risk for impaired renal function in type 2 diabetic patients
Ng DP, et al.
Kidney Int 2008 May

Novel Variants in UBE2B Gene and Idiopathic Male Infertility
Suryavathi V, et al.
J Androl 2008 May

Impact of plasminogen activator inhibitor-1 gene polymorphisms on primary membranous nephropathy
Chen CH, et al.
Nephrol Dial Transplant 2008 May

 

Complications of Pregnancy, Childbirth, and the Puerperium

Carriage of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism does not influence the first and second trimester uterine artery Doppler flow
Stonek F, et al.
Eur J Obstet Gynecol Reprod Biol 2008 May

 

Diseases of the Musculoskeletal System and Connective Tissue

Tumour necrosis factor superfamily member 11 gene promoter polymorphisms modulate promoter activity and influence bone mineral density in postmenopausal women with osteoporosis
Mencej S, et al.
J Mol Endocrinol 2008 Jun;40(6):273-9

Identification of a Role for the ARHGEF3 Gene in Postmenopausal Osteoporosis
Mullin BH, et al.
Am J Hum Genet 2008 May

Association between 'interleukin' 10 gene (IL10) polymorphisms and systemic sclerosis with interstitial lung involvement
Ates O, et al.
Rheumatol Int 2008 May

Genetic polymorphism of CYP1A2 and the toxicity of leflunomide treatment in rheumatoid arthritis patients
Bohanec Grabar P, et al.
Eur J Clin Pharmacol 2008 May

 

Symptoms, Signs and Ill-defined Conditions

Influence of polymorphisms of drug metabolizing enzymes (CYP2B6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, GSTA1, GSTP1, ALDH1A1 and ALDH3A1) on the pharmacokinetics of cyclophosphamide and 4-hydroxycyclophosphamide
Ekhart C, et al.
Pharmacogenet Genomics 2008 Jun;18(6):515-23

Vascular endothelial growth factor gene polymorphism and implantation failure
Goodman C, et al.

 

Injury and Poisoning

DNA polymorphisms as tools for spinal cord injury research
Guimaraes PE, et al.
Spinal Cord 2008 May

 

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Page last reviewed: May 29, 2008 (archived document)
Content Source: National Office of Public Health Genomics