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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
January 3, 2008
Volume 20, No. 1

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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

Genetic Variations of VDR/NR1I1 Encoding Vitamin D Receptor in a Japanese Population
Ukaji M, et al.
Drug Metab Pharmacokinet 2007 Dec;22(6):462-7

 

Infectious and Parasitic Diseases

Association of TLR7 single nucleotide polymorphisms with chronic HCV-infection and response to interferon-a-based therapy
Schott E, et al.
J Viral Hepat 2008 Jan;15(1):71-8

Duffy blood group gene polymorphisms among malaria vivax patients in four areas of the Brazilian Amazon region
Cavasini CE, et al.
Malar J 2007 Dec;6(1):167

 

Neoplasms

BRCA1 mutations and prostate cancer in Poland
Cybulski C, et al.
Eur J Cancer Prev 2008 Feb;17(1):62-6

The interleukin-8-251*T/*A polymorphism is not associated with risk for gastric carcinoma development in a Portuguese population
Canedo P, et al.
Eur J Cancer Prev 2008 Feb;17(1):28-32

Human epithelial growth factor receptor 2[Ile655Val] polymorphism and risk of breast fibroadenoma
Zubor P, et al.
Eur J Cancer Prev 2008 Feb;17(1):33-8

Meat consumption, N-acetyl transferase 1 and 2 polymorphism and risk of breast cancer in Danish postmenopausal women
Egeberg R, et al.
Eur J Cancer Prev 2008 Feb;17(1):39-47

Rare variant of hypoxia-inducible factor-1alpha (HIF-1A) and breast cancer risk in Korean women
Lee JY, et al.
Clin Chim Acta 2007 Dec

A Novel Polymorphism in the Promoter Region of ERBB4 Is Associated with Breast and Colorectal Cancer Risk
Rokavec M, et al.
Clin Cancer Res 2007 Dec;13(24):7506-14

Results of a population-based screening for hereditary breast cancer in a region  of North-Central Italy: contribution of BRCA1/2 germ-line mutations
Seymour IJ, et al.
Breast Cancer Res Treat 2007 Dec

Interleukin 1 beta gene polymorphism and risk of cervical cancer
Sobti RC, et al.
Int J Gynaecol Obstet 2007 Dec

Meta- and Pooled Analyses of the Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Gastric Cancer Risk: A Huge-GSEC Review
Boccia S, et al.
Am J Epidemiol 2007 Dec

Association between long-term neuro-toxicities in testicular cancer survivors and polymorphisms in lutathione-s-transferase-P1 and -M1, a retrospective cross sectional study
Oldenburg J, et al.
J Transl Med 2007 Dec;5(1):70

Meat, vegetables and genetic polymorphisms and the risk of colorectal carcinomas  and adenomas
Skjelbred CF, et al.
BMC Cancer 2007 Dec;7(1):228

Multiple Genetic Polymorphisms of GSTP1 313AG, MDR1 3435CC, and MTHFR 677CC Highly Correlated with Early Relapse of Breast Cancer Patients in Taiwan
Huang MY, et al.
Ann Surg Oncol 2007 Dec

Glutathione-S-transferase M1 and T1 and cytochrome P1A1 genetic polymorphisms and susceptibility to cervical intraepithelial neoplasia in Greek women
Agorastos T, et al.
Eur J Cancer Prev 2007 Dec;16(6):498-504

Sequence variations of mitochondrial DNA D-loop region are highly frequent events in familial breast cancer
Yu M, et al.
J Biomed Sci 2007 Dec

 

Endocrine, Nutritional and Metabolic Diseases

Association of Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphism with Metabolic Syndrome in Iranians with Type 2 Diabetes Mellitus
Nikzamir A, et al.
Arch Iran Med 2008 Jan;11(1):3-9

Apolipoprotein A5 IVS3+476A Allelic Variant Associates With Increased Trigliceride Levels and Confers Risk for Development of Metabolic Syndrome in Hungarians
Kisfali P, et al.
Circ J 2008 Jan;72(1):40-3

Folate Intake at RDA Levels Is Inadequate for Mexican American Men with the Methylenetetrahydrofolate Reductase 677TT Genotype
Solis C, et al.
J Nutr 2008 Jan;138(1):67-72

SNPs in PPARG Associate with Type 2 Diabetes and Interact with Physical Activity
Kilpealinen TO, et al.
Med Sci Sports Exerc 2007 Dec

Correlation of Polymorphism in IL-6 Gene Promoter with BMI, Inflammatory Factors, and Pathogenesis and Progression of CHD
Jia XW, et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi 2007 Dec;15(6):1270-5

Phosphoglucomutase Genetic Polymorphism and Body Mass
Gloria-Bottini F, et al.
Am J Med Sci 2007 Dec;334(6):421-5

Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8 and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population
Omori S, et al.
Diabetes 2007 Dec

Family-based analysis of vitamin D receptor gene polymorphisms and type 1 diabetes in the population of South Croatia
Boraska V, et al.
J Hum Genet 2007 Dec

The common variants of E-selectin gene in Graves' disease
Chen H, et al.
Genes Immun 2007 Dec

 

Diseases of the Blood & Blood-Forming Organ Disorders

Angiotensin-Converting Enzyme Gene Polymorphism Is Associated with Anemia in Non  Small-Cell Lung Cancer
Yaren A, et al.
Exp Biol Med (Maywood) 2008 Jan;233(1):32-7

 

Mental Disorders

A functional serotonin transporter promoter gene polymorphism increases ADHD symptoms in delinquents: Interaction with adverse childhood environment
Retz W, et al.
Psychiatry Res 2007 Dec

Catechol-O-methyltransferase Val158Met polymorphism and clinical characteristics  in first episode non-affective psychosis
Pelayo-Teran JM, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Dec

Association analysis between a VNTR intron 8 polymorphism of the dopamine transporter gene (SLC6A3) and obsessive- compulsive disorder in a Brazilian sample
Miguita K, et al.
Arq Neuropsiquiatr 2007 Dec;65(4A):936-41

Significant association of DRD1 with nicotine dependence
Huang W, et al.
Hum Genet 2007 Dec

Comprehensive evaluation of positional candidates in the IL-18 pathway reveals suggestive associations with schizophrenia and herpes virus seropositivity
Shirts BH, et al.
Am J Med Genet B Neuropsychiatr Genet 2007 Dec

 

Diseases of the Nervous System and Sense Organs

Polymorphisms of the glucocorticoid receptor gene in Graves ophthalmopathy
Boyle B, et al.
Br J Ophthalmol 2008 Jan;92(1):131-4

Correlation between APOE -491AA Promoter in epsilon4 Carriers and Clinical Deterioration in Early Stage of Traumatic Brain Injury
Jiang Y, et al.
J Neurotrauma 2007 Dec;24(12):1802-10

Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease
Hutter CM, et al.
Eur J Neurol 2007 Dec

 

Diseases of the Circulatory System

Inflammatory system gene polymorphism and the risk of stroke: A case-control study in an Indian population
Banerjee I, et al.
Brain Res Bull 2008 Jan;75(1):158-65

T64A polymorphism in beta3-adrenergic receptor gene (ADRB3) and coronary heart disease: a case-cohort study and meta-analysis
Zafarmand MH, et al.
J Intern Med 2008 Jan;263(1):79-89

Relation of apolipoprotein e polymorphism to markers of early atherosclerotic changes in young adults
Gronroos P, et al.
Circ J 2008 Jan;72(1):29-34

Association of the mutation for the human carboxypeptidase E gene exon 4 with the severity of coronary artery atherosclerosis
Jia EZ, et al.
Mol Biol Rep 2007 Dec

Association between inflammatory markers and the interleukin-6 -174 G/C polymorphism is abolished in peripheral arterial occlusive disease
Potaczek DP, et al.
Int Angiol 2007 Dec;26(4):318-23

Factor V Leiden, Prothrombin G20210A, and Protein C Mutation Frequency in Turkish Venous Thrombosis Patients
Altinisik J, et al.
Clin Appl Thromb Hemost 2007 Dec

The Role of Plasminogen Activator Inhibitor-1 Polymorphism, Factor-V-Leiden, and  Prothrombin-20210 Mutations in Pulmonary Thromboembolism
Oguzulgen IK, et al.
Clin Appl Thromb Hemost 2007 Dec

Role of beta adrenergic receptor polymorphisms in heart failure: Systematic review and meta-analysis
Muthumala A, et al.
Eur J Heart Fail 2007 Dec

Association between inflammatory gene polymorphisms and coronary artery disease in an Indian population
Banerjee I, et al.
J Thromb Thrombolysis 2007 Dec

PPARGC1A (PGC-1{alpha}) variation associated with DNA damage, diabetes and cardiovascular diseases: the Boston Puerto Rican Health Study
Lai CQ, et al.
Diabetes 2007 Dec

 

Diseases of the Respiratory System

Plasma UGRP1 Levels Associate with Promoter G-112A Polymorphism and the Severity  of Asthma
Inoue K, et al.
Allergol Int 2008 Mar;57(1):1-20

RANTES Promoter Gene Polymorphisms and Susceptibility to Severe Respiratory Syncytial Virus-Induced Bronchiolitis
Amanatidou V, et al.
Pediatr Infect Dis J 2008 Jan;27(1):38-42

Promoter polymorphism of the IL-18 gene is associated with atopic asthma in Tunisian children
Lachheb J, et al.
Int J Immunogenet 2007 Dec

Association of interleukin-10 gene haplotypes with Pseudomonas aeruginosa airway  colonization in cystic fibrosis
Tesse R, et al.
J Cyst Fibros 2007 Dec

 

Diseases of the Digestive System

Diverse effects of the CARD15 and IBD5 loci on clinical phenotype in 630 patients with Crohn's disease
Onnie CM, et al.
Eur J Gastroenterol Hepatol 2008 Jan;20(1):37-45

Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan
Lin YC, et al.
J Pediatr Gastroenterol Nutr 2008 Jan;46(1):36-40

Association of Galactose Single-Point Test Levels and Phenytoin Metabolic Polymorphisms with Gingival Hyperplasia in Patients Receiving Long-Term Phenytoin Therapy
Lin CJ, et al.
Pharmacotherapy 2008 Jan;28(1):35-41

Role of the novel Th17 cytokine IL-17F in inflammatory bowel disease (IBD): Upregulated colonic IL-17F expression in active crohn's disease and analysis of the IL17F p.His161Arg polymorphism in IBD
Seiderer J, et al.
Inflamm Bowel Dis 2007 Dec

Gene polymorphisms of matrix metalloproteinase-2, -9 and -12 in periodontal health and severe chronic periodontitis
Gurkan A, et al.
Arch Oral Biol 2007 Dec

Autophagy gene ATG16L1 influences susceptibility and disease location but not childhood-onset in Crohn's disease in Northern Europe
Van Limbergen J, et al.
Inflamm Bowel Dis 2007 Dec

No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: A study in 3 independent European cohorts
Buning C, et al.
Inflamm Bowel Dis 2007 Dec

The ATG16L1 Gene Variants rs2241879 and rs2241880 (T300A) Are Strongly Associated With Susceptibility to Crohn's Disease in the German Population
Glas J, et al.
Am J Gastroenterol 2007 Dec

 

Diseases of the Genitourinary System

Cytokine gene polymorphism in kidney transplantation - Impact of TGF-beta1, TNF-alpha and IL-6 on graft outcome
Nikolova PN, et al.
Transpl Immunol 2008 Feb;18(4):344-8

 

Complications of Pregnancy, Childbirth, and the Puerperium

Fetal Polymorphisms in Anti-inflammatory Cytokine and beta-adrenergic Receptor Genes Associated With Placental Pathological Lesions
Polydorides AD, et al.
Int J Gynecol Pathol 2008 Jan;27(1):79-85

 

Diseases of the Skin and Subcutaneous Tissue

Distribution of the CTLA-4 single nucleotide polymorphisms CT60G>A and +49A>G in  psoriasis vulgaris patients and control individuals from a Polish Caucasian population
Luszczek W, et al.
Int J Immunogenet 2007 Dec

Association of the interleukin-10 distal promoter (-2763A/C) polymorphism with late-onset
psoriasis

Wongpiyabovorn J, et al.
Clin Exp Dermatol 2007 Dec

A functional promoter polymorphism in monocyte chemoattractant protein-1 is associated with psoriasis
Wang L, et al.
Int J Immunogenet 2007 Dec

 

Diseases of the Musculoskeletal System and Connective Tissue

Relationships between the insulin-like growth factor I (IGF-I) receptor gene G3174A polymorphism, serum IGF-I levels, and bone mineral density in postmenopausal Korean women
Lee DO, et al.
J Bone Miner Metab 2008;26(1):42-6

Manganese superoxide dismutase Ala-9Val mitochondrial targeting sequence polymorphism in systemic lupus erythematosus in Poland
Sobkowiak A, et al.
Clin Rheumatol 2007 Dec

TREX1 polymorphisms associated with autoantibodies in patients with systemic lupus
erythematosus

Hur JW, et al.
Rheumatol Int 2007 Dec

Auto-antibodies, HLA and PTPN22: susceptibility markers for rheumatoid arthritis
Orozco G, et al.
Rheumatology (Oxford) 2007 Dec

Meta-analysis of the Association between HLA-DRB1 Allele and Rheumatoid Arthritis Susceptibility in Asian Populations
Jun KR, et al.
J Korean Med Sci 2007 Dec;22(6):973-80

 

Congenital Anomalies

The I105V polymorphism in glutathione S-transferase P1, parental smoking and the  risk for nonsyndromic cleft lip with or without cleft palate
Krapels IP, et al.
Eur J Hum Genet 2007 Dec

 

Certain Conditions Originating in the Perinatal Period

The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age
Carrascosa A, et al.
J Clin Endocrinol Metab 2007 Dec

 

 

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Page last reviewed: January 3, 2008 (archived document)
Content Source: National Office of Public Health Genomics