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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
May 25, 2006
Volume 16, No. 21

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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

Distribution of apolipoprotein E alleles in coras and huicholes from Nayarit and Nahuas and Mestizos from Veracruz, Mexico
Cruz-Fuentes CS, et al.
Hum Biol 2005 Dec;77(6):867-72

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population
Neocleous V, et al.
Int J Pediatr Otorhinolaryngol 2006 May

Cytokine typing: SNP allele frequencies in the Iranian population
Bagheri M, et al.
Int J Immunogenet 2006 Jun;33(3):193-5

HLA class II gene polymorphism in Parsees and Zoroastrians of Iran
Farjadian S, et al.
Int J Immunogenet 2006 Jun;33(3):185-91

Inhibitory and activatory KIR gene frequencies in the Polish population
Luszczek W, et al.
Int J Immunogenet 2006 Jun;33(3):167-70

 

Infectious and Parasitic Diseases

Carriage of DRB1*13 Is Associated with Increased Posttreatment IgE Levels against Schistosoma mansoni Antigens and Lower Long-Term Reinfection Levels
Booth M, et al.
J Immunol 2006 Jun;176(11):7112-8

Importance of HLA-DQ and HLA-DP polymorphisms in cytokine responses to naturally processed HLA-DR-derived measles virus peptides
Ovsyannikova IG, et al.
Vaccine 2006 May

Relationship between IFN-gamma gene polymorphism and susceptibility to intrauterine HBV infection
Yu H, et al.
World J Gastroenterol 2006 May;12(18):2928-31

HLA class II DRB1 polymorphism in Argentinians undergoing chronic Trypanosoma cruzi infection
Garcia Borras S, et al.
Ann Clin Biochem 2006 May;43(Pt 3):214-6           

 

Neoplasms

Investigation of HER-2 codon 655 single nucleotide polymorphism frequency and c-ErbB-2 protein expression alterations in gastric cancer patients
Satiroglu-Tufan NL, et al.
World J Gastroenterol 2006 May;12(20):3283-7

Cytogenetic damage and genetic variants in the individuals susceptible to arsenic-induced cancer through drinking water
Ghosh P, et al.
Int J Cancer 2006 May;118(10):2470-8

Plasminogen activator inhibitor-1 promoter polymorphism is not associated with the aggressiveness of disease in prostate cancer
Li H, et al.
Clin Oncol (R Coll Radiol) 2006 May;18(4):333-7

Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients
Morari EC, et al.
J Cancer Res Clin Oncol 2006 May

Frequent finding of the androgen receptor A645D variant in normal population
Lundin KB, et al.
J Clin Endocrinol Metab 2006 May

Methylenetetrahydrofolate reductase A1298C genotypes are associated with the risks of acute lymphoblastic leukaemia and chronic myelogenous leukaemia in the Korean population
Hur M, et al.
Clin Lab Haematol 2006 Jun;28(3):154-9

NOTCH1 Mutations in T-Cell Acute Lymphoblastic Leukemia: Prognostic Significance and Implication in Multifactorial Leukemogenesis
Zhu YM, et al.
Clin Cancer Res 2006 May;12(10):3043-9

XRCC3 and XPD/ERCC2 Single Nucleotide Polymorphisms and the Risk of Cancer: A HuGE Review
Manuguerra M, et al.
Am J Epidemiol 2006 May

Association of vitamin D receptor FokI polymorphism with prostate cancer risk, clinicopathological features and recurrence of prostate specific antigen after radical prostatectomy
Huang SP, et al.
Int J Cancer 2006 May

Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer
Wirtenberger M, et al.
Carcinogenesis 2006 May

Glutathione S-transferase polymorphisms associated with risk of breast cancer in southern Taiwan
Chang TW, et al.
Breast 2006 May

Variations in the peroxisome proliferator-activated receptor-gamma gene and melanoma risk
Mossner R, et al.
Cancer Lett 2006 May

Polymorphisms and haplotypes of the NBS1 gene are associated with risk of sporadic breast cancer in non-Hispanic white women <= 55 years
Lu J, et al.
Carcinogenesis 2006 May

CDKN2A common variant and multi-organ cancer risk--a population-based study
Debniak T, et al.
Int J Cancer 2006 Jun;118(12):3180-2

CYP17, SRD5A2, CYP1B1, and CYP2D6 Gene Polymorphisms with Prostate Cancer Risk in North Indian Population
Sobti RC, et al.
DNA Cell Biol 2006 May;25(5):287-94

 

Endocrine, Nutritional and Metabolic Diseases

The genetic background of osteoporosis in cystic fibrosis: Association analysis with polymorphic markers in four candidate genes
Castellani C, et al.
J Cyst Fibros 2006 May

Association Between Functional FABP2 Promoter Haplotype and Type 2 Diabetes
Li Y, et al.
Horm Metab Res 2006 May;38(5):300-7

BDNF Val66Met Polymorphism Is Associated with Body Mass Index in Healthy Adults
Gunstad J, et al.
Neuropsychobiology 2006 May;53(3):153-6

G-protein beta3 subunit polymorphism C1429T and low-density lipoprotein receptor-related protein 5 polymorphism A1330V are risk factors for hypercholesterolemia in Japanese males-a prospective study over 5 years
Suwazono Y, et al.
Metabolism 2006 Jun;55(6):751-7

A decision tree for genetic diagnosis of hereditary periodic fevers in unselected patients
Federici L, et al.
Ann Rheum Dis 2006 May

Evidence for Consistent Intragenic and Intergenic Interactions between SNP Effects in the APOA1/C3/A4/A5 Gene Cluster
Hamon SC, et al.
Hum Hered 2006 May;61(2):87-96

Angiotensinogen gene polymorphism (Met235Thr) influences visceral obesity and insulin resistance in obese Japanese women
Takakura Y, et al.
Metabolism 2006 Jun;55(6):819-24

A Two-Base Deletion -439delGC in the Melanocortin-4 Receptor Promoter Associated with Early-Onset Obesity
Valli-Jaakola K, et al.
Horm Res 2006 May;66(2):61-9

Effect of B vitamins and genetics on success of in-vitro fertilisation: prospective cohort study
Haggarty P, et al.
Lancet 2006 May;367(9521):1513-9

Preliminary Evidence of FABP2 A54T Polymorphism Associated with Reduced Risk of Type 2 Diabetes and Obesity in Women from a German Cohort
Fisher E, et al.
Horm Metab Res 2006 May;38(5):341-5

FSH receptor gene polymorphisms have a role for different ovarian response to stimulation in patients entering IVF/ICSI-ET programs
Loutradis D, et al.
J Assist Reprod Genet 2006 May

Polymorphisms in genes involved in folate metabolism as risk factors for oedematous severe childhood malnutrition: a hypothesis-generating study
Marshall KG, et al.
Ann Trop Paediatr 2006 Jun;26(2):107-14

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype
Admoni O, et al.
Clin Endocrinol (Oxf) 2006 Jun;64(6):645-51

 

Mental Disorders

Association study between kynurenine 3-monooxygenase gene and schizophrenia in the Japanese population
Aoyama N, et al.
Genes Brain Behav 2006 Jun;5(4):364-8

Association of Specific Haplotypes of Neurotrophic Tyrosine Kinase Receptor 2 Gene (NTRK2) with Vulnerability to Nicotine Dependence in African-Americans and European-Americans
Beuten J, et al.
Biol Psychiatry 2006 May

Investigation of A218C tryptophan hydroxylase polymorphism: association with familial suicide behavior and proband's suicide attempt characteristics
Viana MM, et al.
Genes Brain Behav 2006 Jun;5(4):340-5

Investigation of genetic association between human Frizzled homolog 3 gene (FZD3) and schizophrenia: Results in a Korean population and evidence from meta-analysis
Jeong SH, et al.
Psychiatry Res 2006 May

Serotonin 2A -1438 G/A and G-Protein Beta3 Subunit C825T Polymorphisms in Patients with Depression and SSRI-Associated Sexual Side-Effects
Bishop JR, et al.
Neuropsychopharmacology 2006 May

Performance on the Wisconsin Card Sorting Test in schizophrenia and genes of dopaminergic inactivation (COMT, DAT, NET)
Rybakowski JK, et al.
Psychiatry Res 2006 May

Association between glutamic acid decarboxylase genes and anxiety disorders, major depression, and neuroticism
Hettema JM, et al.
Mol Psychiatry 2006 May           

 

Diseases of the Nervous System and Sense Organs

Analyses of a MS-associated haplotype encompassing the CCL3 gene
Vyshkina T & Kalman B
J Neuroimmunol 2006 May

Cytokine gene polymorphisms in retinal detachment patients with and without proliferative vitreoretinopathy: a preliminary study
Sanabria Ruiz-Colmenares MR, et al.
Acta Ophthalmol Scand 2006 Jun;84(3):309-13

Glutathione S-Transferase P1 Polymorphism (Ile105Val) Predicts Cumulative Neuropathy in Patients Receiving Oxaliplatin-Based Chemotherapy
Lecomte T, et al.
Clin Cancer Res 2006 May;12(10):3050-6

No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese
Gotoh N, et al.
Hum Genet 2006 May

Association of Polymorphism in the Transcription Factor LBP-1c/CP2/LSF Gene with Alzheimer's Disease and Major Depression
Schahab S, et al.
Dement Geriatr Cogn Disord 2006 May;22(1):95-8

PAX6 missense mutations associated in patients with optic nerve malformation
Nallathambi J, et al.
Mol Vis 2006;12:236-42

           

Diseases of the Circulatory System

The relationship between four single nucleotide polymorphisms in the promoter region of the osteoprotegerin gene and aortic calcification or coronary artery disease in Koreans
Rhee EJ, et al.
Clin Endocrinol (Oxf) 2006 Jun;64(6):689-97

Variation in the Human Matrix Metalloproteinase-9 Gene Is Associated With Arterial Stiffness in Healthy Individuals
Yasmin, et al.
Arterioscler Thromb Vasc Biol 2006 May

Association between patterns of nucleotide variation across the three fibrinogen genes and plasma fibrinogen levels: the Coronary Artery Risk Development in Young Adults (CARDIA) study
Reiner AP, et al.
J Thromb Haemost 2006 Jun;4(6):1279-87

Increase in plasma plasminogen activators inhibitor type 1 concentration after fibrinolytic treatment in patients with acute myocardial infarction is associated with 4G/5G polymorphism of PAI-1 gene
Mlynarska A, et al.
J Thromb Haemost 2006 Jun;4(6):1361-6

A single nucleotide polymorphism in the matrix metalloproteinase 9 gene (-8202A/G) is associated with thoracic aortic aneurysms and thoracic aortic dissection
Chen L, et al.
J Thorac Cardiovasc Surg 2006 May;131(5):1045-52

Hyperhomocysteinaemia, methylenetetrahydrofolate reductase polymorphism and risk of coronary artery disease
Kerkeni M, et al.
Ann Clin Biochem 2006 May;43(Pt 3):200-6

Angiotensin-converting enzyme insertion/deletion polymorphism and retinal artery occlusion
Schafer E, et al.
Acta Ophthalmol Scand 2006 Jun;84(3):305-8

Relationship of BMPR2 Mutations to Vasoreactivity in Pulmonary Arterial Hypertension
Elliott CG, et al.
Circulation 2006 May

AMPD1 gene polymorphism and the vasodilatory response to ischemia
Hand BD, et al.
Life Sci 2006 May

 

Diseases of the Respiratory System

Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma
Bierbaum S, et al.
Int J Immunogenet 2006 Jun;33(3):201-4

Lack of association between COPD and transforming growth factor-beta1 (TGFB1) genetic polymorphisms in Koreans
Yoon HI, et al.
Int J Tuberc Lung Dis 2006 May;10(5):504-9

 

Diseases of the Digestive System

Cytokine Tumor Necrosis Factor-alpha A Promoter Gene Polymorphism at Position -308 G-->A and Pediatric Inflammatory Bowel Disease: Implications in Ulcerative Colitis and Crohn's Disease
Sykora J, et al.
J Pediatr Gastroenterol Nutr 2006 May;42(5):479-87

Association of low density lipoprotein receptor related protein-associated protein (LRPAP1) gene insertion/deletion polymorphism with gallstone disease
Dixit M, et al.
J Gastroenterol Hepatol 2006 May;21(5):847-9

Contribution of CARD15 variants in determining susceptibility to Crohn's disease in Sweden
Torkvist L, et al.
Scand J Gastroenterol 2006 Jun;41(6):700-5

Analysis of the interleukin-1 and interleukin-6 polymorphisms in patients with chronic periodontitis. A pilot study
Jansson H, et al.
Swed Dent J 2006;30(1):17-23

 

Diseases of the Genitourinary System

Aldosterone synthase (CYP11B2)-344T/C polymorphism and renoprotective response to losartan treatment in diabetic nephropathy
Schjoedt KJ, et al.
Scand J Clin Lab Invest 2006;66(3):173-80

Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens
Radpour R, et al.
Mol Hum Reprod 2006 May

Associations of homologous RNA-binding motif gene on the X chromosome (RBMX) and its like sequence on chromosome 9 (RBMXL9) with non-obstructive azoospermia
Tsujimura A, et al.
Asian J Androl 2006 Mar;8(2):213-8

Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature
Komatsuda A, et al.
Ren Fail 2006;28(3):223-7

 

Complications of Pregnancy, Childbirth, and the Puerperium

Annexin V C/T-1 polymorphism and pregnancy complications
Franchi F, et al.
Haematologica 2006 May

 

Diseases of the Skin and Subcutaneous Tissue

CTLA-4 gene polymorphisms and natural soluble CTLA-4 protein in psoriasis vulgaris
Luszczek W, et al.
 Int J Immunogenet 2006 Jun;33(3):217-24

Analysis of chromosome 5q31-32 and psoriasis: confirmation of a susceptibility locus but no association with SNPs within SLC22A4 and SLC22A5
Friberg C, et al.
J Invest Dermatol 2006 May;126(5):998-1002

The Relationship between CYP17 -34T/C Polymorphism and Acne in Chinese Subjects Revealed by Sequencing
He L, et al.
Dermatology 2006;212(4):338-42

 

Diseases of the Musculoskeletal System and Connective Tissue

Bone metabolism markers predict increase in bone mass, height and sitting height during puberty depending on the VDR Fok1 genotype
Terpstra L, et al.
Clin Endocrinol (Oxf) 2006 Jun;64(6):625-31

A polymorphism in the promoter region of the CD86 (B7.2) gene is associated with systemic sclerosis
Abdallah AM, et al.
Int J Immunogenet 2006 Jun;33(3):155-61

A novel single-nucleotide polymorphism of the Fcgamma receptor IIIa gene is associated with genetic susceptibility to systemic lupus erythematosus in Chinese populations: a family-based association study
Ye D, et al.
Clin Exp Dermatol 2006 Jun;31(4):553-7

Asporin repeat polymorphism in rheumatoid arthritis
Torres B, et al.
Ann Rheum Dis 2006 May

Dinucleotide repeat polymorphism in intron II of human Toll-like receptor 2 gene and susceptibility to rheumatoid arthritis
Lee EY, et al.
Int J Immunogenet 2006 Jun;33(3):211-5

 

Congenital Anomalies

Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population
Mostowska A, et al.
Clin Genet 2006 Jun;69(6):512-7

 

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Page last updated: November 2, 2007
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