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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
October 18, 2007
Volume 19, No. 16

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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

A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome
Auber B, et al.
Clin Genet 2007 Nov;72(5):454-9

Apolipoprotein E polymorphism distribution in an elderly Brazilian population: the Bambui Health and Aging Study
Fuzikawa AK, et al.
Braz J Med Biol Res 2007 Nov;40(11):1429-34

Genetic Polymorphisms of DNA Repair Gene: XRCC1 Pro206Pro and Gln632Gln in a Chinese Han Population
Yin J, et al.
Biochem Genet 2007 Oct

Genotype frequency and F (ST) analysis of polymorphisms in immunoregulatory genes in Chinese and Caucasian populations
Lan Q, et al.
Immunogenetics 2007 Oct

FTO polymorphisms in oceanic populations
Ohashi J, et al.
J Hum Genet 2007 Oct

 

Infectious and Parasitic Diseases

Putative Association of Fas and FasL Gene Polymorphisms with Clinical Outcomes of Hepatitis B Virus Infection
Jung YJ, et al.
Intervirology 2007 Oct;50(5):369-76

Evidence for human leukocyte antigen heterozygote advantage against hepatitis C virus infection
Hraber P, et al.
Hepatology 2007 Oct

 

Neoplasms

The Thorough Screening of the MUTYH Gene in a Large French Cohort of Sporadic Colorectal Cancers
Kury S, et al.
Genet Test 2007 Oct

A novel single nucleotide polymorphism in ERCC6 gene is associated with oral cancer susceptibility in Taiwanese patients
Chiu CF, et al.
Oral Oncol 2007 Oct

Sequence Variants of Estrogen Receptor {beta} and Risk of Prostate Cancer in the  National Cancer Institute Breast and Prostate Cancer Cohort Consortium
Chen YC, et al.
Cancer Epidemiol Biomarkers Prev 2007 Oct;16(10):1973-81

Correlation of 53BP1 and p53 Polymorphisms to Susceptibility to Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma
Cao YY, et al.
Ai Zheng 2007 Oct;26(10):1052-7

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
Broderick P, et al.
Nat Genet 2007 Oct

Association between Toll-Like Receptor Gene Cluster (TLR6, TLR1, and TLR10) and Prostate Cancer
Chen YC, et al.
Cancer Epidemiol Biomarkers Prev 2007 Oct;16(10):1982-9

Association of interleukin-1A, interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms with multiple myeloma
Abazis-Stamboulieh D, et al.
Leuk Lymphoma 2007 Oct:1-8

Pharmacogenetic assessment of toxicity and outcome after platinum plus taxane chemotherapy in ovarian cancer: the Scottish Randomised Trial in Ovarian Cancer
Marsh S, et al.
J Clin Oncol 2007 Oct;25(29):4528-35

Association Between Two Unlinked Loci at 8q24 and Prostate Cancer Risk Among European Americans
Zheng SL, et al.
J Natl Cancer Inst 2007 Oct

Frequency of TP53 Mutations in Relation to Arg72Pro Genotypes in Non Small Cell Lung Cancer
Lind H, et al.
Cancer Epidemiol Biomarkers Prev 2007 Oct;16(10):2077-81

Polymorphisms in Nucleotide Excision Repair Genes, Polycyclic Aromatic Hydrocarbon-DNA Adducts, and Breast Cancer Risk
Crew KD, et al.
Cancer Epidemiol Biomarkers Prev 2007 Oct;16(10):2033-41

Breast cancer risk is associated with the genes encoding the DNA double-strand break repair mre11/rad50/nbs1 complex
Hsu HM, et al.
Cancer Epidemiol Biomarkers Prev 2007 Oct;16(10):2024-32

Polymorphisms in Apoptosis- and Proliferation-Related Genes, Ionizing Radiation Exposure, and Risk of Breast Cancer among U.S. Radiologic Technologists
Sigurdson AJ, et al.
Cancer Epidemiol Biomarkers Prev 2007 Oct;16(10):2000-7

Comprehensive Association Analysis of the Vitamin D Pathway Genes, VDR, CYP27B1,  and CYP24A1, in Prostate Cancer
Holick CN, et al.
Cancer Epidemiol Biomarkers Prev 2007 Oct;16(10):1990-9

Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC)
Geary J, et al.
Fam Cancer 2007 Oct

The MnSOD Val9Ala polymorphism, dietary antioxidant intake, risk and survival in  ovarian cancer (Australia)
Johnatty SE, et al.
Gynecol Oncol 2007 Oct

Menopausal age and XRCC1 gene polymorphisms: Role in breast cancer risk
Silva SN, et al.
Cancer Detect Prev 2007 Oct

Common single nucleotide polymorphisms in the vascular endothelial growth factor  gene and colorectal cancer risk
Hofmann G, et al.
J Cancer Res Clin Oncol 2007 Oct

The UGT2B17 gene deletion polymorphism and risk of prostate cancer A case-control study in Caucasians
Gallagher CJ, et al.
Cancer Detect Prev 2007 Oct

A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study
Murabito JM, et al.
BMC Med Genet 2007;8 Suppl 1:S6

 

Endocrine, Nutritional and Metabolic Diseases

Type 1 diabetes risk analysis on dried blood spot samples from population-based newborns: design and feasibility of an unselected case-control study
Eising S, et al.
Paediatr Perinat Epidemiol 2007 Nov;21(6):507-17

A M55V Polymorphism in the SUMO4 Gene is Associated with a Reduced Prevalence of  Diabetic Retinopathy in Patients with Type 1 Diabetes
Rudofsky G Jr, et al.
Exp Clin Endocrinol Diabetes 2007 Oct

A Variant of the Transcription Factor 7-like 2 (TCF7L2) Gene and the Risk of Post-transplant Diabetes Mellitus (PTDM) in Renal Allograft Recipients
Kang ES, et al.
Diabetes Care 2007 Oct

Polymorphisms in the gene encoding the voltage-dependent Ca(2+) channel Ca (V)2.3 (CACNA1E) are associated with type 2 diabetes and impaired insulin secretion
Holmkvist J, et al.
Diabetologia 2007 Oct

The polymorphism -863C/A in tumour necrosis factor-{alpha} gene contributes an independent association to gout
Chang SJ, et al.
Rheumatology (Oxford) 2007 Oct

Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes
Porzio O, et al.
Hum Mutat 2007 Oct;28(11):1150

Further evidence of a primary, causal association of the PTPN22 620W variant with type 1 diabetes
Zoledziewska M, et al.
Diabetes 2007 Oct

Pharmacogenetic study of cholesteryl ester transfer protein gene and simvastatin  treatment in hypercholesterolaemic subjects
Anagnostopoulou K, et al.
Expert Opin Pharmacother 2007 Oct;8(15):2459-63

Minor contribution of SMAD7 and KLF10 variants to genetic susceptibility of type  2 diabetes
Gutierrez-Aguilar R, et al.
Diabetes Metab 2007 Oct

Genome-wide association with diabetes-related traits in the Framingham Heart Study
Meigs JB, et al.
BMC Med Genet 2007;8 Suppl 1:S16

The -374A allele of the receptor for advanced glycation end products (RAGE) gene  promoter is a protective factor against cardiovascular lesions in type 2 diabetes mellitus patients
Picheth G, et al.
Clin Chem Lab Med 2007;45(10):1268-72

Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project
Fox CS, et al.
BMC Med Genet 2007;8 Suppl 1:S18

A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study
Kathiresan S, et al.
BMC Med Genet 2007;8 Suppl 1:S17

 

Diseases of the Blood & Blood-Forming Organ Disorders

Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study
Yang Q, et al.
BMC Med Genet 2007;8 Suppl 1:S12

 

Mental Disorders

Meta-analyses of genetic studies on major depressive disorder
Lopez-Leon S, et al.
Mol Psychiatry 2007 Oct

Positive association between OLIG2 and schizophrenia in the Chinese Han population
Huang K, et al.
Hum Genet 2007 Oct

Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB
Ribases M, et al.
Mol Psychiatry 2007 Oct

Genetic variation of the FAT gene at 4q35 is associated with bipolar affective disorder
Abou Jamra R, et al.
Mol Psychiatry 2007 Oct

AVPR1A and OXTR polymorphisms are associated with sexual and reproductive behavioral phenotypes in humans
Prichard ZM, et al.
Hum Mutat 2007 Oct;28(11):1150

Interactions of child maltreatment and serotonin transporter and monoamine oxidase A polymorphisms: Depressive symptomatology among adolescents from low socioeconomic status backgrounds
Cicchetti D, et al.
Dev Psychopathol 2007 Fall;19(4):1161-80

Gene-environment interactions reexamined: Does mother's marital stability interact with the dopamine receptor D2 gene in the etiology of childhood attention-deficit/hyperactivity disorder?
Waldman ID
Dev Psychopathol 2007 Fall;19(4):1117-28

Evidence for a gene-gene interaction in predicting children's behavior problems:  Association of serotonin transporter short and dopamine receptor D4 long genotypes with internalizing and externalizing behaviors in typically developing  7-year-olds
Schmidt LA, et al.
Dev Psychopathol 2007 Fall;19(4):1105-16

Bidirectional genetic and environmental influences on mother and child behavior:  The family system as the unit of analyses
Mills-Koonce WR, et al.
Dev Psychopathol 2007 Fall;19(4):1073-87

Parenting quality interacts with genetic variation in dopamine receptor D4 to influence temperament in early childhood
Sheese BE, et al.
Dev Psychopathol 2007 Fall;19(4):1039-46

Socioeconomic status mediates the genetic contribution of the dopamine receptor D4 and serotonin transporter linked promoter region repeat polymorphisms to externalization in preadolescence
Nobile M, et al.
Dev Psychopathol 2007 Fall;19(4):1147-60

Lack of Association between Endoplasmic Reticulum Stress Response Genes and Suicidal Victims
Sakurai K, et al.
Kobe J Med Sci 2007;53(4):151-5

Exploring interactive effects of genes and environments in etiology of individual differences in reading comprehension
Grigorenko EL, et al.
Dev Psychopathol 2007 Fall;19(4):1089-103

 

Diseases of the Nervous System and Sense Organs

Methylenetetrahydrofolate reductase gene and risk of Alzheimer's disease in Koreans
Kim JM, et al.
Int J Geriatr Psychiatry 2007 Oct

Apolipoprotein E genotype and traumatic brain injury in children-association with neurological outcome
Brichtova E & Kozak L
Childs Nerv Syst 2007 Oct

A sequence variation in the MOG gene is involved in multiple sclerosis susceptibility in Italy
D'Alfonso S, et al.
Genes Immun 2007 Oct

Synergistic interaction of ABCB1 and ABCG2 polymorphisms predicts the prevalence  of toxic encephalopathy during anticancer chemotherapy
Erdiotalyi DJ, et al.
Pharmacogenomics J 2007 Oct

M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance
Pollak A, et al.
Am J Med Genet A 2007 Oct

Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study
Seshadri S, et al.
BMC Med Genet 2007;8 Suppl 1:S15

Genome-wide association of sleep and circadian phenotypes
Gottlieb DJ, et al.
BMC Med Genet 2007;8 Suppl 1:S9

Diseases of the Circulatory System

1059G/C polymorphism within the exon 2 of the C-reactive protein gene: relationship to C-reactive protein levels and prognosis in unstable angina
Rizzello V, et al.
Coron Artery Dis 2007 Nov;18(7):533-8

TP53 codon 72 polymorphism as a risk factor for cardiovascular disease in a Brazilian population
Smith MA, et al.
Braz J Med Biol Res 2007 Nov;40(11):1465-72

Associations of methylenetetrahydrofolate reductase C677T polymorphism with markers of subclinical atherosclerosis: The Cardiovascular Risk in Young Finns Study
Collings A, et al.
Scand J Clin Lab Invest 2007 Oct:1-12

The angiotensin-converting enzyme insertion/deletion polymorphism and serum levels of angiotensin-converting enzyme in venous thromboembolism. Data from a case control study
Ay C, et al.
Thromb Haemost 2007 Oct;98(4):777-82

Association of Met439Thr Substitution in Heat Shock Protein 70 Gene with Postoperative Atrial Fibrillation and Serum HSP70 Protein Levels
Afzal AR, et al.
Cardiology 2007 Oct;110(1):45-52

Effect of angiotensin-converting enzyme insertion/deletion genotype on collagen type I synthesis and degradation in patients with atrial fibrillation and arterial hypertension
Tziakas DN, et al.
Expert Opin Pharmacother 2007 Oct;8(14):2225-34

A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency
Yin T, et al.
Thromb Haemost 2007 Oct;98(4):783-9

Variation in 24 Hemostatic Genes and Associations with Non-fatal Myocardial Infarction and Ischemic Stroke
Smith NL, et al.
J Thromb Haemost 2007 Oct

The relationship of P47(phox) C923T (Ala308Val) polymorphism to cerebral infarction and its effect on plasma lipid levels
Huang XS, et al.
Zhonghua Yi Xue Za Zhi 2007 Aug;87(29):2062-4

Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study
O'Donnell CJ, et al.
BMC Med Genet 2007;8 Suppl 1:S4

Framingham Heart Study 100K Project: genome-wide associations for blood pressure  and arterial stiffness
Levy D, et al.
BMC Med Genet 2007;8 Suppl 1:S3

Framingham Heart Study 100K project: genome-wide associations for cardiovascular  disease outcomes
Larson MG, et al.
BMC Med Genet 2007;8 Suppl 1:S5

CD36 polymorphism and its relationship with body mass index and coronary artery disease in a Korean population
Min Yun Y, et al.
Clin Chem Lab Med 2007;45(10):1277-82

Genome-wide association study of electrocardiographic and heart rate variability  traits: the Framingham Heart Study
Newton-Cheh C, et al.
BMC Med Genet 2007;8 Suppl 1:S7

 

Diseases of the Respiratory System

Association between Gm allotypes and asthma severity from childhood to young middle age
Gustafsson PM, et al.
Respir Med 2007 Oct

Framingham Heart Study genome-wide association: results for pulmonary function measures
Wilk JB, et al.
BMC Med Genet 2007;8 Suppl 1:S8

 

Diseases of the Digestive System

Endoscopic Analysis of Gastric Ulcer after One Week's Treatment with Omeprazole and Rabeprazole in Relation to CYP2C19 Genotype
Ando T, et al.
Dig Dis Sci 2007 Oct

Functional polymorphisms of the FPR1 gene and aggressive periodontitis in Japanese
Gunji T, et al.
Biochem Biophys Res Commun 2007 Oct

Toll-like Receptor 2 (TLR) -196 to 174del Polymorphism in Gastro-duodenal Diseases in Japanese Population
Tahara T, et al.
Dig Dis Sci 2007 Oct

Variation of the gene encoding the nuclear bile salt receptor FXR and gallstone susceptibility in mice and humans
Kovacs P, et al.
J Hepatol 2007 Oct

Association of MTRR 66A>G Polymorphism With Superoxide Dismutase and Disease Activity in Patients With Crohn's Disease
Peyrin-Biroulet L, et al.
Am J Gastroenterol 2007 Oct

Toll-like receptor 4 (TLR4) gene polymorphisms in celiac disease
Santin I, et al.
Tissue Antigens 2007 Oct

Genetic polymorphism of COX-1 gene and NSAID-induced ulcer
Arisawa T & Hirata I
Nippon Rinsho 2007 Oct;65(10):1885-9

 

Diseases of the Genitourinary System

Association of p53 codon 72 polymorphism with endometriosis
Ammendola M, et al.
Fertil Steril 2007 Oct

Role of {beta}3 Integrin in Acute Renal Allograft Rejection in Humans
Chandrakantan A, et al.
Clin J Am Soc Nephrol 2007 Oct

A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study
Hwang SJ, et al.
BMC Med Genet 2007;8 Suppl 1:S10

 

Complications of Pregnancy, Childbirth, and the Puerperium

Gamma 2 Actin Gene (Enteric Type) Polymorphism Is Not Associated with Obstetric Cholestasis or Preeclampsia
Laasanen J, et al.
Fetal Diagn Ther 2007 Oct;23(1):36-40

Association study of protease activated receptor 1 gene polymorphisms and adverse pregnancy outcomes: Results of a pilot study in Israel
Grisaru-Granovsky S, et al.
Am J Med Genet A 2007 Oct

 

Diseases of the Skin and Subcutaneous Tissue

Tumour necrotizing factor-alpha promoter and GST-T1 genotype predict skin allergy to chromate in cement workers in Taiwan
Wang BJ, et al.
Contact Dermatitis 2007 Nov;57(5):309-15

 

Diseases of the Musculoskeletal System and Connective Tissue

Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia
Aldave AJ, et al.
Am J Med Genet A 2007 Oct

Association of ACE Gene Polymorphism with Genetic Susceptibility to Systemic Lupus Erythematosus in a Chinese Population: A Family-based Association Study
Xu J, et al.
J Rheumatol 2007 Oct

HSPD1 is not a major susceptibility gene for rheumatoid arthritis in the French Caucasian population
Jacq L, et al.
J Hum Genet 2007 Oct

Gender-Specific Association of the Glucocorticoid Receptor Gene with Extreme Bone Mineral Density
Peng YM, et al.
J Bone Miner Res 2007 Oct

Genome-wide association with bone mass and geometry in the Framingham Heart Study
Kiel DP, et al.
BMC Med Genet 2007;8 Suppl 1:S14

 

Congenital Anomalies

Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis
Zintzaras E
J Hum Genet 2007 Oct

 

Certain Conditions Originating in the Perinatal Period

Growth hormone dose, but not exon 3-deleted/full-length growth hormone receptor polymorphism genotypes, influences growth response to two-year growth hormone therapy in short small-for-gestational-age children
Carrascosa A, et al.
J Clin Endocrinol Metab 2007 Oct

 

Symptoms, Signs and Ill-defined Conditions

Retrospective analysis of main and interaction effects in genetic association studies of human complex traits
Tan Q, et al.
BMC Genet 2007 Oct;8(1):70

Genome-wide association with select biomarker traits in the Framingham Heart Study
Benjamin EJ, et al.
BMC Med Genet 2007;8 Suppl 1:S11

Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study
Lunetta KL, et al.
BMC Med Genet 2007;8 Suppl 1:S13

 

Injury and Poisoning

BTNL2 allele associations with chronic beryllium disease in HLA-DPB1*Glu69-negative individuals
Sato H, et al.
Tissue Antigens 2007 Oct

 

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Page last reviewed: October 18, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics