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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
May 3, 2007
Volume 18, No. 18

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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

High Frequency of the TCRBV20S1 Null Allele in the Sardinian Population
Bonfigli S, et al.
Hum Immunol 2007 May;68(5):426-9

HLA Haplotypes in Singapore: A Study of Mothers and Their Cord Blood Units
Tang TF, et al.
Hum Immunol 2007 May;68(5):430-8

HLA class I Polymorphism in Mongolian and Hui Ethnic Groups from Northern China
Hong W, et al.
Hum Immunol 2007 May;68(5):439-48

Comprehensive Mutation Screening in 55 Probands with Type 1 Primary Hyperoxaluria Shows Feasibility of a Gene-Based Diagnosis
Monico CG, et al.
J Am Soc Nephrol 2007 Apr

The Frequency of Factor V Leiden and Concomitance of Factor V Leiden With Prothrombin G20210A Mutation and Methylene Tetrahydrofolate Reductase C677T Gene Mutation in Healthy Population of Denizli, Aegean Region of Turkey
Kabukcu S, et al.
Clin Appl Thromb Hemost 2007 Apr;13(2):166-71

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes
Keegan CE, et al.
Clin Endocrinol (Oxf) 2007 Apr

Improved Definition of Human Leukocyte Antigen Frequencies Among Minorities and Applicability to Estimates of Transplant Compatibility
Leffell MS, et al.
Transplantation 2007 Apr;83(7):964-72

Mutational analysis of PTPRT phosphatase domains in common human cancers
Lee JW, et al.
APMIS 2007 Jan;115(1):47-51

 

Infectious and Parasitic Diseases

Mannose-Binding Lectin Gene Polymorphism, Vulvovaginal Candidiasis, and Bacterial Vaginosis
Giraldo PC, et al.
Obstet Gynecol 2007 May;109(5):1123-8

Polymorphism in the CCR5 Gene Promoter and HIV-1 Infection in North Indians
Kaur G, et al.
Hum Immunol 2007 May;68(5):454-61

CCL2-2518 A/G and CCR2 190 A/G do not influence the outcome of hepatitis C virus infection in the Spanish population
Montes-Cano MA, et al.
World J Gastroenterol 2007 Apr;13(15):2187-92

IFNG +874T/A polymorphism is not associated with American tegumentary leishmaniasis susceptibility but can influence Leishmania induced IFN-g production
Matos GI, et al.
BMC Infect Dis 2007 Apr;7(1):33

I{kappa}B Genetic Polymorphisms and Invasive Pneumococcal Disease
Chapman SJ, et al.
Am J Respir Crit Care Med 2007 Apr

Pulmonary Mycobacterium avium complex infection: Association with NRAMP1 polymorphisms
Tanaka G, et al.
Eur Respir J 2007 Apr

 

Neoplasms

p16(CDKN2) gene polymorphism: association with histologic subtypes of epithelial ovarian cancer in China
Yan L, et al.
Int J Gynecol Cancer 2007 Apr

Patterns of PIK3CA alterations in familial colorectal and endometrial carcinoma
Ollikainen M, et al.
Int J Cancer 2007 Apr

Polymorphisms of CYP1A1 and GSTM1 Genes and Susceptibility to Oral Cancer
Cha IH, et al.
Yonsei Med J 2007 Apr;48(2):233-9

Polymorphisms, Mutations, and Amplification of the EGFR Gene in Non-Small Cell Lung Cancers
Nomura M, et al.
PLoS Med 2007 Apr;4(4):e125

CYP1B1 and predisposition to breast cancer in Poland
Matyjasik J, et al.
Breast Cancer Res Treat 2007 Apr

Assessment of the toll-like receptor 4 Asp299gly, thr399Ile and interleukin-8 -251 polymorphisms in the risk for the development of distal gastric cancer
Garza Gonzalez E, et al.
BMC Cancer 2007 Apr;7(1):70

 

Endocrine, Nutritional and Metabolic Diseases

Molecular scanning of interleukin-21 gene and genetic susceptibility to type 1 diabetes
Asano K, et al.
Hum Immunol 2007 May;68(5):384-91

INSIG2 gene polymorphism is not associated with obesity in Caucasian, Afro-Caribbean and Indian subjects
Smith AJ, et al.
Int J Obes (Lond) 2007 May

Strong Linkage Disequilibrium and Association of -1131T>C and c.553G>T Polymorphisms of the Apolipoprotein A5 Gene With Hypertriglyceridemia in a Japanese Population
Matsunaga A, et al.
Circ J 2007 May;71(5):746-52

High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis
Avbelj M, et al.
Eur J Endocrinol 2007 May;156(5):511-9

Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels
Saxena R, et al.
Science 2007 Apr

l-selectin gene polymorphisms in Graves' disease
Chen HY, et al.
Clin Endocrinol (Oxf) 2007 Apr

Replication of Genome-Wide Association Signals in U.K. Samples Reveals Risk Loci for Type 2 Diabetes
Zeggini E, et al.
Science 2007 Apr

A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
Steinthorsdottir V, et al.
Nat Genet 2007 Apr

A -243A-->G polymorphism upstream of the gene encoding GAD65 associates with lower levels of body mass index and glycaemia in a population-based sample of 5857 middle-aged White subjects
Boesgaard TW, et al.
Diabet Med 2007 Apr

Association of TCF7L2 polymorphisms with type 2 diabetes in Mexico City
Parra E, et al.
Clin Genet 2007 Apr;71(4):359-66

Insulin VNTR I/III genotype is associated with autoantibodies against glutamic acid decarboxylase in newly diagnosed type 1 diabetes
Rajasalu T, et al.
Diabetes Metab Res Rev 2007 Apr

Genetics of type 1 diabetes in Asian and Caucasian populations
Ikegami H, et al.
Diabetes Res Clin Pract 2007 Apr

A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants
Scott LJ, et al.
Science 2007 Apr

Sequence variants in exons of the BMP-15 gene in Chinese patients with premature ovarian failure
Zhang P, et al.
Acta Obstet Gynecol Scand 2007;86(5):585-9

 

Mental Disorders

Gene-by-Environment (Serotonin Transporter and Childhood Maltreatment) Interaction for Anxiety Sensitivity, an Intermediate Phenotype for Anxiety Disorders
Stein MB, et al.
Neuropsychopharmacology 2007 Apr

5' UTR polymorphism of dopamine receptor D1 (DRD1) associated with severity and temperament of alcoholism
Kim DJ, et al.
Biochem Biophys Res Commun 2007 Apr

Genetic polymorphisms in dopamine-related genes and smoking cessation in women: a prospective cohort study
Ton TG, et al.
Behav Brain Funct 2007 Apr;3(1):22

Association analysis of the chromosome 4p15-p16 candidate region for bipolar disorder and schizophrenia
Christoforou A, et al.
Mol Psychiatry 2007 Apr

CHRM2 variation predisposes to personality traits of Agreeableness and Conscientiousness
Luo X, et al.
Hum Mol Genet 2007 Apr

 

Diseases of the Nervous System and Sense Organs

Lack of Association between Interleukin-1 Gene Cluster Polymorphisms and Glaucoma in Chinese Subjects
How AC, et al.
Invest Ophthalmol Vis Sci 2007 May;48(5):2123-6

Multiple sclerosis immunopathic trait and HLA-DR(2)15 as independent risk factors in multiple sclerosis
Callander M, et al.
Mult Scler 2007 May;13(4):441-5

The Genetic Influence of the Nonclassical MHC Molecule HLA-G on Multiple Sclerosis
Kroner A, et al.
Hum Immunol 2007 May;68(5):422-5

UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor
Otaegui D, et al.
Mult Scler 2007 May;13(4):454-8

Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility factors of multiple sclerosis?
Sidoti A, et al.
Mult Scler 2007 May;13(4):446-53

Association of -318 C/T and +49 A/G cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms with a clinical subset of Italian patients with systemic sclerosis
Balbi G, et al.
Clin Exp Immunol 2007 Apr

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population
Corrado L, et al.
J Neurol Sci 2007 Apr

Analysis of HLA antigens in Turkish sarcoidosis patients
Bilir M, et al.
South Med J 2007 Apr;100(4):356-9

Interleukin-1alpha polymorphism has influence on late-onset sporadic Parkinson's disease in Taiwan Wu YR, et al.
J Neural Transm 2007 Apr

Sigma Receptor Type 1 Gene Variation in a Group of Polish Patients with Alzheimer's Disease and Mild Cognitive Impairment
Maruszak A, et al.
Dement Geriatr Cogn Disord 2007 Apr;23(6):332-8

APOE {varepsilon}4 allele is associated with cognitive impairment in patients with multiple sclerosis
Shi J, et al.
Neurology 2007 Apr

Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration
Seddon JM, et al.
JAMA 2007 Apr;297(16):1793-800

High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
Ferreira JJ, et al.
Mov Disord 2007 Apr

Interaction between the APOE varepsilon4 allele and the APH-1b c+651T>G SNP in Alzheimer's disease
Poli M, et al.
Neurobiol Aging 2007 Apr

An analysis of the CFH Y402H genotype in AMD patients and controls from the UK, and response to PDT treatment
Goverdhan SV, et al.
Eye 2007 Apr

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
Ziegler SG, et al.
Mol Genet Metab 2007 Apr

 

Diseases of the Circulatory System

Apolipoprotein A-I/C-III/A-IV SstI and Apolipoprotein B XbaI Polymorphisms Do not Affect Early Functional and Structural Changes in Atherosclerosis
Nieminen T, et al.
Circ J 2007 May;71(5):741-5

Genetics of Ischaemic Stroke among Persons of Non-European Descent: A Meta-Analysis of Eight Genes Involving approximately 32,500 Individuals
Ariyaratnam R, et al.
PLoS Med 2007 Apr;4(4):e131

PECAM-1/CD31 in Infarction and Longevity
Listi F, et al.
Ann N Y Acad Sci 2007 Apr;1100:132-9

Lower contribution of factor v leiden or g202104 mutations to ischemic stroke in patients with clinical risk factors: pair-matched case-control study
Eterovic D, et al.
Clin Appl Thromb Hemost 2007 Apr;13(2):188-93

Significance of Factor V, Prothrombin, MTHFR, and PAI-1 Genotypes in Childhood Cerebral Thrombosis
Ozyurek E, et al.
Clin Appl Thromb Hemost 2007 Apr;13(2):154-60

Genetic Variation in the Interleukin-10 Gene Promoter and Risk of Coronary and Cerebrovascular Events: The PROSPER Study
Trompet S, et al.
Ann N Y Acad Sci 2007 Apr;1100:189-98

Apolipoprotein E polymorphism is associated with both carotid and coronary atherosclerosis in patients with coronary artery disease
Graner M, et al.
Nutr Metab Cardiovasc Dis 2007 Apr

Influence of Combined Methionine Synthase (MTR 2756A > G) and Methylenetetrahydrofolate Reductase (MTHFR 677C > T) Polymorphisms to Plasma Homocysteine Levels in Korean Patients with Ischemic Stroke
Kim OJ, et al.
Yonsei Med J 2007 Apr;48(2):201-9

 

Diseases of the Respiratory System

Comparison distribution of hla-B alleles in mexican patients with takayasu arteritis and tuberculosis
Soto ME, et al.
Hum Immunol 2007 May;68(5):449-53

Cytotoxic T lymphocyte-associated antigen-4 gene polymorphisms confer susceptibility to atopic asthma in Korean children
Sohn MH, et al.
Pediatr Pulmonol 2007 Apr;42(6):542-7

ETB receptor polymorphism is associated with airway obstruction
Taille C, et al.
BMC Pulm Med 2007 Apr;7(1):5

A promoter nucleotide variant of the dendritic cell-specific DCNP1 associates with serum IgE levels specific for dust mite allergens among the Korean asthmatics
Kim Y, et al.
Genes Immun 2007 Apr

 

Diseases of the Digestive System

Gene polymorphisms and the prevalence of key periodontal pathogens
Nibali L, et al.
J Dent Res 2007 May;86(5):416-20

No association of the cytotoxic T-lymphocyte associated gene CTLA4 +49A/G polymorphisms with Crohn's disease and ulcerative colitis in Hungarian population samples
Magyari L, et al.
World J Gastroenterol 2007 Apr;13(15):2205-8

 

Diseases of the Genitourinary System

Associations between renal sodium-citrate cotransporter (hNaDC-1) gene polymorphism and urinary citrate excretion in recurrent renal calcium stone formers and normal controls
Okamoto N, et al.
Int J Urol 2007 Apr;14(4):344-9

 

Diseases of the Skin and Subcutaneous Tissue

Relevance of the low-affinity type of the Fcgamma-receptor IIIa-polymorphism in bullous pemphigoid
Weisenseel P, et al.
Arch Dermatol Res 2007 Apr

 

Diseases of the Musculoskeletal System and Connective Tissue

Occupational and genetic risk factors associated with intervertebral disc disease
Virtanen IM, et al.
Spine 2007 May;32(10):1129-34

Strong combined gene-environment effects in anti-cyclic citrullinated peptide-positive rheumatoid arthritis: A nationwide case-control study in Denmark
Pedersen M, et al.
Arthritis Rheum 2007 Apr;56(5):1446-53

Association of Anti-Cyclic citrullinated peptide antibody levels with PADI4 haplotypes in early rheumatoid arthritis and with shared epitope alleles in very late rheumatoid arthritis
Cha S, et al.
Arthritis Rheum 2007 Apr;56(5):1454-63

Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population
Iwamoto T, et al.
J Hum Genet 2007 Apr

Sequence Analysis of TNFRSF13b, Encoding TACI, in Patients with Systemic Lupus Erythematosus
Salzer U, et al.
J Clin Immunol 2007 Apr

Microphthalmia-associated Transcription Factor Polymorphis and Association with Bone Mineral Density of the Proximal Femur in Postmenopausal Women
Koh JM, et al.
Mol Cells 2007 Apr;23(2):246-51

Association of DRB1 shared epitope genotypes with early mortality in rheumatoid arthritis: Results of eighteen years of followup from the early rheumatoid arthritis study
Mattey DL, et al.
Arthritis Rheum 2007 Apr;56(5):1408-16

 

Certain Conditions Originating in the Perinatal Period

Genetic Variations within the Insulin Gene Region are Associated with Accelerated Fetal Growth
Osada H, et al.
Tohoku J Exp Med 2007 May;212(1):27-34

 

Injury and Poisoning

Polymorphisms in XPD (Asp312Asn and Lys751Gln) genes, sunburn and arsenic related skin lesions
McCarty KM, et al.
Carcinogenesis 2007 Apr

 

 

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Page last reviewed: May 3, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics