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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
December 6, 2007
Volume 19, No. 22

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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

HLA-Cw allele frequencies in northern and southern Italy
Guerini FR, et al.
Transpl Immunol 2008 Jan;18(3):286-9

(TA)n UDP-Glucuronosyltransferase 1A1 Promoter Polymorphism in Nigerian Neonates
Kaplan M, et al.
Pediatr Res 2007 Nov

Frequency of cystathionine beta-synthase 844INS68 polymorphism in Southern Iran
Senemar S, et al.
Mol Biol Rep 2007 Nov

Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar
Nuchprayoon I, et al.
J Hum Genet 2007 Nov

 

Infectious and Parasitic Diseases

Interleukin (IL)-18 Polymorphism 133C/G Is Associated With Severe Respiratory Syncytial Virus Infection
Puthothu B, et al.
Pediatr Infect Dis J 2007 Dec;26(12):1094-8

 

Neoplasms

Tumor susceptibility and prognosis of breast cancer associated with the G870A polymorphism of CCND1
Yu CP, et al.
Breast Cancer Res Treat 2008 Jan;107(1):95-102

Breast Cancer Risk Among Male BRCA1 and BRCA2 Mutation Carriers
Tai YC, et al.
J Natl Cancer Inst 2007 Nov

Comprehensive analysis of the role of DNA repair gene polymorphisms on risk of glioma
Bethke L, et al.
Hum Mol Genet 2007 Nov

Single nucleotide polymorphisms of the aromatase gene (CYP19A1), HER2/neu status, and prognosis in breast cancer patients
Fasching PA, et al.
Breast Cancer Res Treat 2007 Nov

An investigation on the polymorphisms of two DNA repair genes and susceptibility  to ESCC and GCA of high-incidence region in northern China
Wang N, et al.
Mol Biol Rep 2007 Nov

Association between folate-metabolizing pathway polymorphism and non-Hodgkin lymphoma
Kim HN, et al.
Br J Haematol 2007 Nov

NBS1 variant I171V and breast cancer risk
Bogdanova N, et al.
Breast Cancer Res Treat 2007 Nov

Comprehensive assessment of P21 polymorphisms and lung cancer risk
Choi YY, et al.
J Hum Genet 2007 Nov

 

Endocrine, Nutritional and Metabolic Diseases

No evidence of association of the PDCD1 gene with Type 1 diabetes
Fawwaz S, et al.
Diabet Med 2007 Dec;24(12):1473-7

Androgen receptor CAG repeats and body composition among Ariaal men
Campbell BC, et al.
Int J Androl 2007 Nov

The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes
Cooper JD, et al.
BMC Med Genet 2007 Nov;8(1):71

Association of CTLA4 single nucleotide polymorphisms with viral but not autoimmune liver disease
Schott E, et al.
Eur J Gastroenterol Hepatol 2007 Nov;19(11):947-51

Evaluation of the genetic lactose intolerance test
Reinton N, et al.
Tidsskr Nor Laegeforen 2007 Nov;127(23):3057-60

Loss-of-Function Mutations in the Filaggrin Gene and Allergic Contact Sensitization to Nickel
Novak N, et al.
J Invest Dermatol 2007 Nov

 

Mental Disorders

Association of alpha4beta2 nicotinic receptor and heavy smoking in schizophrenia
Voineskos S, et al.
J Psychiatry Neurosci 2007 Nov;32(6):412-6

A network of dopaminergic gene variations implicated as risk factors for schizophrenia
Talkowski ME, et al.
Hum Mol Genet 2007 Nov

Serotonin transporter polymorphism (5-HTTLPR) association with melancholic depression: a female specific effect?
Baune BT, et al.
Depress Anxiety 2007 Nov

Spatial Attentional Bias as a Marker of Genetic Risk, Symptom Severity, and Stimulant Response in ADHD
Bellgrove MA, et al.
Neuropsychopharmacology 2007 Nov

Depression like characteristics of 5HTTLPR polymorphism and temperament in excessive internet users
Lee YS, et al.
J Affect Disord 2007 Nov

Polymorphisms of Transferrin gene are associated with schizophrenia in Chinese Han population
Qu M, et al.
J Psychiatr Res 2007 Nov

 

Diseases of the Nervous System and Sense Organs

The effect of complement factor H Y402H polymorphism on the outcome of photodynamic therapy in age-related macular degeneration
Seitsonen SP, et al.
Eur J Ophthalmol 2007 Nov-2007 Dec;17(6):943-9

Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration
Venturelli E, et al.
Eur J Neurol 2007 Nov

Diseases of the Circulatory System

Alcohol consumption, alcohol dehydrogenase and risk of coronary heart disease in  the MONICA/KORA-Augsburg cohort 1994/1995-2002
Heidrich J, et al.
Eur J Cardiovasc Prev Rehabil 2007 Dec;14(6):769-74

Beta-adrenergic receptor genes are associated with arterial stiffness in black and white adults: the bogalusa heart study
Chen W, et al.
Am J Hypertens 2007 Dec;20(12):1251-7

Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked, SNPs in the ANRIL locus on chromosome 9p
Broadbent HM, et al.
Hum Mol Genet 2007 Nov

Circulating soluble ICAM-1 levels shows linkage to ICAM gene cluster region on chromosome 19: The NHLBI Family Heart Study follow-up examination
Bielinski SJ, et al.
Atherosclerosis 2007 Nov

Endothelial Nitric Oxide Synthase Gene
Ozum U, et al.
Acta Neurochir (Wien) 2007 Nov

Four SNPs on Chromosome 9p21 in a South Korean Population Implicate a Genetic Locus That Confers High Cross-Race Risk for Development of Coronary Artery Disease
Shen GQ, et al.
Arterioscler Thromb Vasc Biol 2007 Nov

The frequency of Angiotensin-converting enzyme genotype and left ventricular functions in the obese population
Bitigen A, et al.
Congest Heart Fail 2007 Nov-2007 Dec;13(6):323-7

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for  sudden death
Gronli JO, et al.
Pediatr Pulmonol 2007 Nov;43(1):77-86

Neuropeptide Y polymorphism significantly magnifies diabetes and cardiovascular disease risk in obesity: the Hoorn Study
Jaakkola U, et al.
Eur J Clin Nutr 2007 Nov

DNA repair gene XRCC1 and XPD polymorphisms and their association with coronary artery disease risks and micronucleus frequency
Guven M, et al.
Heart Vessels 2007 Nov;22(6):355-60

Admixture Mapping Provides Evidence of Association of the VNN1 Gene with Hypertension
Zhu X & Cooper RS
PLoS ONE 2007;2(11):e1244

 

Diseases of the Respiratory System

Glucocorticoid receptor gene polymorphisms associated with progression of lung disease in young patients with cystic fibrosis
Corvol H, et al.
Respir Res 2007 Nov;8(1):88

Ozone, Oxidant Defense Genes and Risk of Asthma During Adolescence
Islam T, et al.
Am J Respir Crit Care Med 2007 Nov

 

Diseases of the Digestive System

CT60 A/G marker of the 3'-UTR of the CTLA4 gene and liver transplant
Muro M, et al.
Transpl Immunol 2008 Jan;18(3):246-9

New Serological Markers for Inflammatory Bowel Disease Are Associated With Earlier Age at Onset, Complicated Disease Behavior, Risk for Surgery, and NOD2/CARD15 Genotype in a Hungarian IBD Cohort
Papp M, et al.
Am J Gastroenterol 2007 Nov

Possible Association of Amelogenin to High Caries Experience in a Guatemalan-Mayan Population
Deeley K, et al.
Caries Res 2007 Nov;42(1):8-13

Angiotensin-converting enzyme insertion/deletion gene polymorphism in inflammatory bowel diseases
Saibeni S, et al.
Eur J Gastroenterol Hepatol 2007 Nov;19(11):976-81

ATG16L1 and IL23R Are Associated With Inflammatory Bowel Diseases but Not With Celiac Disease in The Netherlands
Weersma RK, et al.
Am J Gastroenterol 2007 Nov

Interacting alleles of the coinhibitory immunoreceptor genes cytotoxic T-lymphocyte antigen 4 and programmed cell-death 1 influence risk and features of primary biliary cirrhosis
Juran BD, et al.
Hepatology 2007 Nov

Is interleukin-1 genotyping useful for the clinical management of patients with atrophic body gastritis?
Lahner E, et al.
Aliment Pharmacol Ther 2007 Nov

Association Between Genetic Variants in the IL-23R Gene and Early-Onset Crohn's Disease: Results From a Case-Control and Family-Based Study Among Canadian Children
Amre DK, et al.
Am J Gastroenterol 2007 Nov

 

Diseases of the Genitourinary System

Association of Functional Haem Oxygenase-1 Gene Promoter Polymorphism with Polycystic Kidney Disease and IgA Nephropathy
Courtney AE, et al.
Nephrol Dial Transplant 2007 Nov

Association of Hypertension Genotypes and Decline in Renal Function After Kidney  Transplantation
Israni AK, et al.
Transplantation 2007 Nov;84(10):1240-7

 

Diseases of the Skin and Subcutaneous Tissue

Association of angiotensin-converting enzyme/DD genotype with sarcoidosis susceptibility in Slovenian patients
Salobir B, et al.
Med Sci Monit 2007 Dec;13(12):CR538-42

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of an IRF5 gene functional polymorphism with Sjogren's syndrome
Miceli-Richard C, et al.
Arthritis Rheum 2007 Nov;56(12):3989-94

Identification of novel susceptibility genes in childhood-onset systemic lupus erythematosus using a uniquely designed candidate gene pathway platform
Jacob CO, et al.
Arthritis Rheum 2007 Nov;56(12):4164-73

Influence of -308 A/G polymorphism in the tumor necrosis factor alpha gene on etanercept treatment in rheumatoid arthritis
Guis S, et al.
Arthritis Rheum 2007 Nov;57(8):1426-30

Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility
Jiang Q, et al.
J Hum Genet 2007 Nov

HO-1 promoter polymorphism associated with rheumatoid arthritis
Rueda B, et al.
Arthritis Rheum 2007 Nov;56(12):3953-8

 

Certain Conditions Originating in the Perinatal Period

Relationship between small-for-gestational age births and maternal thrombophilic  mutations
Ozbek A N, et al.
Thromb Res 2007 Nov

Assessment of the contribution of insulin-like growth factor I receptor 3174 G-->A polymorphism to the progression of advanced retinopathy of prematurity
Shastry BS
Eur J Ophthalmol 2007 Nov-2007 Dec;17(6):950-3

 

Symptoms, Signs and Ill-defined Conditions

The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes
Roth SM, et al.
Eur J Hum Genet 2007 Nov

 

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Page last reviewed: December 6, 2007 (archived document)
Content Source: National Office of Public Health Genomics