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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
June 14, 2007
Volume 18, No. 24

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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

The vitamin D receptor gene TruI polymorphisms and its effect on the detection of BsmI polymorphisms in Han nationality
Chen W, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Jun;24(3):338-40

The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese
Song F, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Jun;24(3):241-6

Allelic variation in the NPY gene in 14 Indian populations
Bhaskar LV, et al.
J Hum Genet 2007 Jun

Distribution characters and linkage disequilibrium analysis of APOM gene polymorphisms in Han population of North China
Han X & Jia J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Jun;24(3):350-3

 

Infectious and Parasitic Diseases

Arg753Gln Polymorphism of the Human Toll-like Receptor-2 Gene in Children with Recurrent Febrile Infections
Kutukculer N, et al.
Biochem Genet 2007 Jun

A polymorphism in human TLR2 is associated with increased susceptibility to tuberculous meningitis
Thuong NT, et al.
Genes Immun 2007 Jun

 

Neoplasms

Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas
Haven CJ, et al.
Clin Endocrinol (Oxf) 2007 Jun

XRCC1 codon 399 and ERCC2 codon 751 polymorphism, smoking, and drinking and risk of esophageal squamous cell carcinoma in a North Indian population
Sobti RC, et al.
Cancer Genet Cytogenet 2007 Jun;175(2):91-7

The D1822V APC polymorphism interacts with fat, calcium, and fiber intakes in modulating the risk of colorectal cancer in Portuguese persons
Guerreiro CS, et al.
Am J Clin Nutr 2007 Jun;85(6):1592-7

Risk factors for breast cancer characterized by the estrogen receptor alpha A908G (K303R) mutation
Conway K, et al.
Breast Cancer Res 2007 Jun;9(3):R36

Aberrant nuclear p53 protein expression detected by immunohistochemistry is associated with hemizygous P53 deletion and poor survival for multiple myeloma
Chang H, et al.
Br J Haematol 2007 Jun

Study on the relationship between the polymorphism of p53 gene intron 7 and non-small cell lung cancer (NSCLC) and p53 mutation in NSCLC tissues
Gu Q, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Jun;24(3):319-21

A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia
Bacher U, et al.
Haematologica 2007 Jun;92(6):744-52

Favorable genetic polymorphisms predictive of clinical outcome of chemoradiotherapy for stage II/III esophageal squamous cell carcinoma in Japanese
Okuno T, et al.
Am J Clin Oncol 2007 Jun;30(3):252-7

No association between MDM2 SNP309 promoter polymorphism and basal cell carcinoma of the skin
Wilkening S, et al.
Br J Dermatol 2007 Jun

 

Endocrine, Nutritional and Metabolic Diseases

Insulin resistance after precocious pubarche: relation to PAI-1-675 4G/5G polymorphism, and opposing influences of prenatal and postnatal weight gain
Lopez-Bermejo A, et al.
Clin Endocrinol (Oxf) 2007 Jun

Association between A C/T Polymorphism in Exon 33 of the Thyroglobulin Gene Is Associated with Relapse of Graves' Hyperthyroidism after Antithyroid Withdrawal in Taiwanese
Hsiao JY, et al.
J Clin Endocrinol Metab 2007 Jun

Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls
Chinnery PF, et al.
J Med Genet 2007 Jun;44(6):e80

GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism
Tauber M, et al.
Clin Endocrinol (Oxf) 2007 Jun

A SNP haplotype of the forkhead transcription factor FOXO1A gene may have a protective effect against type 2 diabetes in German Caucasians
Bottcher Y, et al.
Diabetes Metab 2007 Jun

Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature
Toyoshima MT, et al.
Clin Endocrinol (Oxf) 2007 Jun

SUMO4 M55V polymorphism affects susceptibility to type I diabetes in HLA DR3- and DR4-positive Swedish patients
Sedimbi SK, et al.
Genes Immun 2007 Jun

Interaction between the uncoupling protein 2 -866G>A gene variant and cigarette smoking to increase oxidative stress in subjects with diabetes
Stephens JW, et al.
Nutr Metab Cardiovasc Dis 2007 Jun

Estrogen receptor alpha polymorphisms and fertility in populations with different reproductive patterns
Corbo RM, et al.
Mol Hum Reprod 2007 Jun

 

Mental Disorders

Positional Pathway Screen of wnt Signaling Genes in Schizophrenia: Association with DKK4
Proitsi P, et al.
Biol Psychiatry 2007 Jun

The Dysbindin Gene (DTNBP1) Is Associated with Methamphetamine Psychosis
Kishimoto M, et al.
Biol Psychiatry 2007 Jun

The PIP5K2A gene and schizophrenia in the Chinese population - A case-control study
He Z, et al.
Schizophr Res 2007 Jun

Association mapping of schizophrenia loci on chromosome 1 by use of pooled DNA genomic screening in eastern Shandong peninsula
Chen G, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Jun;24(3):288-92

 

Diseases of the Nervous System and Sense Organs

No Association between Dopamine D4 Receptor Gene -521 C/T Polymorphism and Tardive Dyskinesia in Schizophrenia
Lee HJ, et al.
Neuropsychobiology 2007 Jun;55(1):47-51

Beta-synuclein gene variants and Parkinson's disease: A preliminary case-control study
Brighina L, et al.
Neurosci Lett 2007 Jun;420(3):229-34

PINK1 IVS5-5 G>A polymorphism may contribute to the risk of late onset Parkinson disease in Chinese
Wang F, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Jun;24(3):305-9

GAB2 Alleles Modify Alzheimer's Risk in APOE varepsilon4 Carriers
Reiman EM, et al.
Neuron 2007 Jun;54(5):713-20

Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia
Li J, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Jun;24(3):302-4

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation
Abidi O, et al.
Int J Pediatr Otorhinolaryngol 2007 Jun

The COL1A1 gene and high myopia susceptibility in Japanese
Inamori Y, et al.
Hum Genet 2007 Jun

Diseases of the Circulatory System

The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile
Pasdar A, et al.
BMC Med Genet 2007 Jun;8(1):30

Relationship between single nucleotide polymorphisms of paraoxonase 2 and stroke
Xu H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Jun;24(3):328-30

Polymorphism modulates symptomatic response to antiarrhythmic drug therapy in patients with lone atrial fibrillation
Darbar D, et al.
Heart Rhythm 2007 Jun;4(6):743-9

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort
Koopmann TT, et al.
Heart Rhythm 2007 Jun;4(6):752-5

The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in UK healthy men
Scartezini M, et al.
Clin Sci (Lond) 2007 Jun

 

Diseases of the Respiratory System

Integrin beta3 genotype influences asthma and allergy phenotypes in the first 6 years of life
Thompson EE, et al.
J Allergy Clin Immunol 2007 Jun;119(6):1423-9

 

Diseases of the Digestive System

TLR2 Arg753Gly, TLR4 Asp299Gly and Thr399Ile gene polymorphisms are not associated with chronic periodontitis in a Turkish population
Berdeli A, et al.
J Clin Periodontol 2007 Jul;34(7):551-7

The association of TGF beta1 and AT1R gene polymorphisms with hereditary susceptibility and clinical phenotype of HBV-induced liver cirrhosis
Li H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Jun;24(3):298-301

Polymorphisms of the TNF-alpha gene and risk of celiac disease in T1DM children
Hermann C, et al.
Pediatr Diabetes 2007 Jun;8(3):138-41

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility
Parkes M, et al.
Nat Genet 2007 Jun

 

Diseases of the Skin and Subcutaneous Tissue

Associations of promoter region polymorphisms in the tumour necrosis factor-alpha gene and early-onset psoriasis vulgaris in a northern Polish population
Nedoszytko B, et al.
Br J Dermatol 2007 Jun

 

Diseases of the Musculoskeletal System and Connective Tissue

Mannose-binding lectin and susceptibility to infection in chinese patients with systemic lupus erythematosus
Mok MY, et al.
J Rheumatol 2007 Jun;34(6):1270-6

Influence of Interleukin 10 Promoter Polymorphisms in Susceptibility to Giant Cell Arteritis in Northwestern Spain
Rueda B, et al.
J Rheumatol 2007 Jun

The -1997 G/T and Sp1 Polymorphisms in the Collagen Type I alpha1 (COLIA1) Gene in Relation to Changes in Femoral Neck Bone Mineral Density and the Risk of Fracture in the Elderly: The Rotterdam Study
Yazdanpanah N, et al.
Calcif Tissue Int 2007 Jun

The PTPN22 1858C/T polymorphism is associated with anti-cyclic citrullinated peptide antibody positive early rheumatoid arthritis in northern Sweden
Kokkonen H, et al.
Arthritis Res Ther 2007 Jun;9(3):R56

AHSG gene polymorphisms are associated with bone mineral density in Caucasian nuclear families
Yang YJ, et al.
Eur J Epidemiol 2007 Jun

 

Congenital Anomalies

Association study on microsatellite polymorphisms of MSX1 gene and nonsyndromic cleft lip and palate
Wu P, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007 Jun;24(3):325-7

 

Injury and Poisoning

ACTN3 genotype in professional soccer players
Santiago C, et al.
Br J Sports Med 2007 Jun

The distribution of I/D polymorphism in the ACE gene among korean male elite athletes
Oh SD
J Sports Med Phys Fitness 2007 Jun;47(2):250-4

ACE I/D gene polymorphism and aerobic endurance development in response to training in a non-elite female cohort
Cam S, et al.
J Sports Med Phys Fitness 2007 Jun;47(2):234-8

 

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Page last reviewed: June 14, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics