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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 1, 2007
Volume 18, No. 5

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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

Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population
Kaur G, et al.
Tissue Antigens 2007 Feb;69(2):113-20

Diversity of the killer cell immunoglobulin-like receptor gene KIR2DS4 in the Chinese population
Yan LX, et al.
Tissue Antigens 2007 Feb;69(2):133-8

Polymorphisms of human leucocyte antigen genes in Maonan people in China
Ogata S, et al.
Tissue Antigens 2007 Feb;69(2):154-60

Identification and Functional Assessment of BCRP Polymorphisms in a Korean Population
Lee SS, et al.
Drug Metab Dispos 2007 Jan

 

Infectious and Parasitic Diseases

Association between hepatitis B virus infection and HLA-DRB1 genotyping in Shaanxi Han patients in northwestern China
Yang G, et al.
Tissue Antigens 2007 Feb;69(2):170-5

HLA-E*0101 and HLA-G*010101 reduce the risk of Behcet's disease
Park KS, et al.
Tissue Antigens 2007 Feb;69(2):139-44

Polymorphisms of CUL5 are associated with CD4+ T cell loss in HIV-1 infected individuals
An P, et al.
PLoS Genet 2007 Jan;3(1):e19

 

Neoplasms

Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus
Loizidou M, et al.
Clin Genet 2007 Feb;71(2):165-70

Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy
Meyer A, et al.
Radiother Oncol 2007 Jan

MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas
Kim JC, et al.
Virchows Arch 2007 Jan

Development of lung cancer before the age of 50: the role of xenobiotic metabolism genes
Gemignani F, et al.
Carcinogenesis 2007 Jan

Genetic variants of CYP3A5, CYP2D6, SULT1A1, UGT2B15 and tamoxifen response in postmenopausal breast cancer patients
Wegman P, et al.
Breast Cancer Res 2007 Jan;9(1):R7

Interleukin-4 and interleukin-4 receptor polymorphisms and colorectal cancer risk
Landi S, et al.
Eur J Cancer 2007 Jan

Increased risk of breast cancer associated with CHEK2*1100delC
Weischer M, et al.
J Clin Oncol 2007 Jan;25(1):57-63

GSTT2 promoter polymorphisms and colorectal cancer risk
Jang SG, et al.
BMC Cancer 2007 Jan;7(1):16

Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study
McCullough ML, et al.
Breast Cancer Res 2007 Jan;9(1):R9

Methylenetetrahydrofolate reductase (MTHFR) and breast cancer risk: a nested-case-control study and a pooled meta-analysis
Macis D, et al.
Breast Cancer Res Treat 2007 Jan

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling
Beristain E, et al.
Breast Cancer Res Treat 2007 Jan

Genetic polymorphisms of NOS3 are associated with the risk of invasive breast cancer with lymph node involvement
Lee KM, et al.
Breast Cancer Res Treat 2007 Jan

Mutations in TP53 are a prognostic factor in colorectal hepatic metastases undergoing surgical resection
Mollevi DG, et al.
Carcinogenesis 2007 Jan

Clinicopathological significance of MMP-2 and TIMP-2 genotypes in gastric cancer
Wu CY, et al.
Eur J Cancer 2007 Jan

A new polymorphism in the coding region of exon four in HSD17B2 in relation to risk of sporadic and hereditary breast cancer
Jansson A, et al.
Breast Cancer Res Treat 2007 Jan

Relationships between polymorphisms in NOS3 and MPO genes, cigarette smoking, and risk of postmenopausal breast cancer
Yang J, et al.
Carcinogenesis 2007 Jan

 

Endocrine, Nutritional and Metabolic Diseases

P2 Promoter Variants of the Hepatocyte Nuclear Factor 4{alpha} Gene Are Associated With Type 2 Diabetes in Mexican Americans
Lehman DM, et al.
Diabetes 2007 Feb;56(2):513-7

No Association of Polymorphisms in the 5' Region of the CD14 Gene and Food Allergy in a Japanese Population
Campos E, et al.
Allergol Int 2007 Feb;56(1):23-7

Haplotypes of Transcription Factor 7-Like 2 (TCF7L2) Gene and Its Upstream Region Are Associated With Type 2 Diabetes and Age of Onset in Mexican Americans
Lehman DM, et al.
Diabetes 2007 Feb;56(2):389-93

Insulin gene VNTR, CTLA-4 +49A/G and HLA-DQB1 alleles distinguish latent autoimmune diabetes in adults from type 1 diabetes and from type 2 diabetes group
Haller K, et al.
Tissue Antigens 2007 Feb;69(2):121-7

Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population
Koo BK, et al.
Diabet Med 2007 Feb;24(2):178-86

Tag Polymorphisms at the A20 (TNFAIP3) Locus Are Associated With Lower Gene Expression and Increased Risk of Coronary Artery Disease in Type 2 Diabetes
Boonyasrisawat W, et al.
Diabetes 2007 Feb;56(2):499-505

Type 2 Diabetes-Associated Missense Polymorphisms KCNJ11 E23K and ABCC8 A1369S Influence Progression to Diabetes and Response to Interventions in the Diabetes Prevention Program
Florez JC, et al.
Diabetes 2007 Feb;56(2):531-6

PTPN22 R620W Functional Variant in Type 1 Diabetes and Autoimmunity Related Traits
Chelala C, et al.
Diabetes 2007 Feb;56(2):522-6

-344C/T Variant in the Promoter of the Aldosterone Synthase Gene (CYP11B2) Is Associated With Metabolic Syndrome in Men
Russo P, et al.
Am J Hypertens 2007 Feb;20(2):218-22

TCF7L2 polymorphisms are associated with type 2 diabetes in northern Sweden
Mayans S, et al.
Eur J Hum Genet 2007 Jan

Variants in ARHGEF11, a Candidate Gene for the Linkage to Type 2 Diabetes Mellitus on Chromosome 1q, Are Nominally Associated With Insulin Resistance and Type 2 Diabetes Mellitus in Pima Indians
Ma L, et al.
Diabetes 2007 Jan

A genetic variation of the transcription factor 7-like 2 gene is associated with risk of type 2 diabetes in the Japanese population
Horikoshi M, et al.
Diabetologia 2007 Jan

Peroxisome Proliferator-Activated Receptor Delta Polymorphisms Are Associated With Physical Performance and Plasma Lipids: The HERITAGE Family Study
Hautala AJ, et al.
Am J Physiol Heart Circ Physiol 2007 Jan

Pro12Ala polymorphism of the PPAR{gamma}2 locus modulates the relationship between energy intake and body weight in type2 diabetic patients
Vaccaro O, et al.
Diabetes Care 2007 Jan

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor
Farooqi IS, et al.
N Engl J Med 2007 Jan;356(3):237-47

Association of acyl-CoA-binding protein (ACBP) single nucleotide polymorphisms and type 2 diabetes in two German study populations
Fisher E, et al.
Mol Nutr Food Res 2007 Jan

 

Diseases of the Blood & Blood-Forming Organ Disorders

Modulation of the risk of coronary sclerosis/myocardial infarction by the interaction between factor XIII subunit A Val34Leu polymorphism and fibrinogen concentration in the high risk Hungarian population
Bereczky Z, et al.
Thromb Res 2007 Jan

 

Mental Disorders

Association of the ADHIB(*)3 Allele With Alcohol-Related Phenotypes in Trinidad
Ehlers CL, et al.
Alcohol Clin Exp Res 2007 Feb;31(2):216-20

Functional Variants in TAS2R38 and TAS2R16 Influence Alcohol Consumption in High-Risk Families of African-American Origin
Wang JC, et al.
Alcohol Clin Exp Res 2007 Feb;31(2):209-15

CYP2C19 polymorphism affects personality traits of Japanese females
Ishii G, et al.
Neurosci Lett 2007 Jan;411(1):77-80

The Dopamine D4 Receptor (DRD4) Gene Promoter in Adult Subjects with ADHD
Eichhammer P, et al.
Psychiatr Prax 2007 Jan;34(1 Suppl):6-7

SNP- and Haplotype Analysis of the Tryptophan Hydroxylase 2 Gene in Alcohol-Dependent Patients and Alcohol-Related Suicide
Zill P, et al.
Neuropsychopharmacology 2007 Jan

Transmission disequilibrium analysis of the functional 5-HT3A receptor variant C178T in early-onset obsessive-compulsive disorder
Mossner R, et al.
J Psychopharmacol 2007 Jan

Dopamine transporter, gender, and number of sexual partners among young adults
Guo G, et al.
Eur J Hum Genet 2007 Jan

 

Diseases of the Nervous System and Sense Organs

Functional Vascular Endothelial Growth Factor -634G>C SNP Is Associated With Proliferative Diabetic Retinopathy: A case-control study in a Brazilian population of European ancestry
Errera FI, et al.
Diabetes Care 2007 Feb;30(2):275-9

Association of A313 G polymorphism (GSTP1*B) in the glutathione-S-transferase P1 gene with sporadic Parkinson's disease
Vilar R, et al.
Eur J Neurol 2007 Feb;14(2):156-61

The 208delG Mutation in FSCN2 Does Not Associate with Retinal Degeneration in Chinese Individuals
Zhang Q, et al.
Invest Ophthalmol Vis Sci 2007 Feb;48(2):530-3

Genetic polymorphisms in the promoter of the interferon gamma receptor 1 gene are associated with atopic cataracts
Matsuda A, et al.
Invest Ophthalmol Vis Sci 2007 Feb;48(2):583-9

C117T variant in the SMN1 gene found in the Japanese population
Sadewa AH, et al.
Pediatr Int 2007 Feb;49(1):8-10

An adenosine A(2A) receptor gene haplotype is associated with migraine with aura
Hohoff C, et al.
Cephalalgia 2007 Feb;27(2):177-81

CXCL10 haplotypes and multiple sclerosis: association and correlation with clinical course
Galimberti D, et al.
Eur J Neurol 2007 Feb;14(2):162-7

The impact of apolipoprotein E on dementia in persons with Down's syndrome
Coppus AM, et al.
Neurobiol Aging 2007 Jan

No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism
Rushton JP, et al.
Biol Lett 2007 Jan

A second major histocompatibility complex susceptibility locus for multiple sclerosis
Yeo TW, et al.
Ann Neurol 2007 Jan

APOE genotypes in African American female multiple sclerosis patients
Huang R, et al.
Neurosci Lett 2007 Jan

Diseases of the Circulatory System

Long QT syndrome in adults
Sauer AJ, et al.
J Am Coll Cardiol 2007 Jan;49(3):329-37

Association Between Angiotensinogen, Angiotensin II Receptor Genes, and Blood Pressure Response to an Angiotensin-Converting Enzyme Inhibitor
Su X, et al.
Circulation 2007 Jan

Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis
Corral J, et al.
Blood 2007 Jan

Association between polymorphisms of ACE, B2AR, ANP and ENOS and cardiovascular diseases: a community-based study in the Matsu area
Hu CJ, et al.
Clin Chem Lab Med 2007;45(1):20-5

 

Diseases of the Respiratory System

Association Analysis of CD40 Polymorphisms with Asthma and The Level of Serum Total IgE
Park JH, et al.
Am J Respir Crit Care Med 2007 Jan

Heme oxygenase-1 polymorphism associated with severity of chronic obstructive pulmonary disease
Fu WP, et al.
Chin Med J (Engl) 2007 Jan;120(1):12-6

Interleukin-18 and its three gene polymorphisms relating to allergic rhinitis
Sebelova S, et al.
J Hum Genet 2007 Jan

The role of TAP1 and TAP2 gene polymorphism in idiopathic bronchiectasis in children
Dogru D, et al.
Pediatr Pulmonol 2007 Jan

Genetic impact of functional single nucleotide polymorphisms in the 3'-UTR region of the chemoattractant receptor expressed on Th2 cells (CRTH2) gene on asthma and atopy in a Japanese population
Maeda Y, et al.
Int Arch Allergy Immunol 2007;142(1):51-8

 

Diseases of the Digestive System

Polymorphisms of tumor necrosis factor-alpha but not MDR1 influence response to medical therapy in pediatric-onset inflammatory bowel disease
Cucchiara S, et al.
J Pediatr Gastroenterol Nutr 2007 Feb;44(2):171-9

Apolipoprotein AI-CIII-AIV gene cluster polymorphisms in relation to cholesterol gallstone
Yao YG, et al.
Chin J Dig Dis 2007 Feb;8(1):52-7

Functional P2X(7) Receptor Polymorphisms (His155Tyr, Arg307Gln, Glu496Ala) in Patients with Crohn's Disease
Haas SL, et al.
Scand J Immunol 2007 Feb;65(2):166-70

Primary sclerosing cholangitis is associated with extended HLA-DR3 and HLA-DR6 haplotypes
Wiencke K, et al.
Tissue Antigens 2007 Feb;69(2):161-9

Gene polymorphisms of tissue plasminogen activator and plasminogen activator inhibitor-1 in Turkish patients with generalized aggressive periodontitis
Emingil G, et al.
J Clin Periodontol 2007 Jan

MDR1 polymorphisms and response to azathioprine therapy in patients with Crohn's disease
Mendoza JL, et al.
Inflamm Bowel Dis 2007 Jan

Multidrug resistance 1 gene polymorphism and susceptibility to inflammatory bowel disease
Ardizzone S, et al.
Inflamm Bowel Dis 2007 Jan

 

Diseases of the Skin and Subcutaneous Tissue

Association of vitiligo with HLA-A2: a meta-analysis
Liu JB, et al.
J Eur Acad Dermatol Venereol 2007 Feb;21(2):205-13

 

Diseases of the Musculoskeletal System and Connective Tissue

Further evidence of the role of frizzled-related protein gene polymorphisms in osteoarthritis
Rodriguez-Lopez J, et al.
Ann Rheum Dis 2007 Jan

Leptin Receptor Genotype at Gln223Arg is Associated with Body Composition, Bone Mineral Density and Vertebral Fracture in Postmenopausal Danish Women
Fairbrother UL, et al.
J Bone Miner Res 2007 Jan

 

Certain Conditions Originating in the Perinatal Period

A Possible Role for the PPARG Pro12Ala Polymorphism in Preterm Birth
Meirhaeghe A, et al.
Diabetes 2007 Feb;56(2):494-8

 

Injury and Poisoning

Modifying effect of the AR gene trinucleotide repeats and SNPs in the AHR and AHRR genes on the association between persistent organohalogen pollutant exposure and human sperm Y : X ratio
Tiido T, et al.
Mol Hum Reprod 2007 Jan

 

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Page last reviewed: February 1, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: National Office of Public Health Genomics