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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
July 17, 2008
Volume 21, No. 3

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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

Is the G2019S LRRK2 mutation common in all southern European populations?
Papapetropoulos S, et al.
J Clin Neurosci 2008 Jul

 

Infectious and Parasitic Diseases

Single-nucleotide polymorphisms in human beta-defensin-1 gene in Mozambican HIV-1-infected women and correlation with virologic parameters
Baroncelli S, et al.
AIDS 2008 Jul;22(12):1515-7

A combined genotype of KIR3DL1 high expressing alleles and HLA-B*57 is associated with a reduced risk of HIV infection
Boulet S, et al.
AIDS 2008 Jul;22(12):1487-91

 

Neoplasms

IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancer
Reeves SG, et al.
Int J Cancer 2008 Jul

Association of ERCC1 polymorphisms and susceptibility to nasopharyngeal carcinoma
Yang ZH, et al.
Mol Carcinog 2008 Jul

MTHFR C677TT, PAI1 4G-4G, V Leiden Q506, and prothrombin G20210A in hepatocellular carcinoma with and without portal vein thrombosis
D'Amico M, et al.
J Thromb Thrombolysis 2008 Jul

Vitamin D Receptor Gene Polymorphisms and the Risk of Colorectal Cancer in a Chinese Population
Li C, et al.
Dig Dis Sci 2008 Jul

Vascular Endothelial Growth Factor Polymorphisms -1154 G/A and -460 C/T Are Not Associated with VEGF mRNA Expression and Susceptibility to Sporadic Colon Cancer
Cacev T, et al.
DNA Cell Biol 2008 Jul

Association of p53 codon 72 polymorphism and MDM2 SNP309 with clinical outcome of advanced nonsmall cell lung cancer
Han JY, et al.
Cancer 2008 Jul

Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families
Frank B, et al.
Cancer Lett 2008 Jul

Missense Polymorphisms in the Adenomatous Polyposis Coli Gene and Colorectal Cancer Risk
Cleary SP, et al.
Dis Colon Rectum 2008 Jul

Association of chromosomal locus 8q24 and risk of prostate cancer: A hospital-based study of German patients treated with brachytherapy
Meyer A, et al.
Urol Oncol 2008 Jul

Genetic variation in candidate obesity genes ADRB2, ADRB3, GHRL, HSD11B1, IRS1, IRS2, and SHC1 and risk of breast cancer in the Cancer Prevention Study II
Feigelson HS, et al.
Breast Cancer Res 2008 Jul;10(4):R57

No association between a polymorphic variant of the IRS-1 gene and prostate cancer risk
Fall K, et al.
Prostate 2008 Jul

The MLH1 -93 G>A promoter polymorphism and genetic and epigenetic alterations in  colon cancer
Samowitz WS, et al.
Genes Chromosomes Cancer 2008 Jul

 

Endocrine, Nutritional and Metabolic Diseases

Impact of the endothelial nitric oxide synthase gene G894T polymorphism on renal  endothelial function in patients with type 2 diabetes
Ritt M, et al.
Pharmacogenet Genomics 2008 Aug;18(8):699-707

INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanese
Hotta K, et al.
J Hum Genet 2008 Jul

The association of the PAX4 gene with type 1 diabetes in Han Chinese
Zhang Y, et al.
Diabetes Res Clin Pract 2008 Jul

Association of glucose transporter 1 polymorphisms with type 2 diabetes in the Tunisian population
Makni K, et al.
Diabetes Metab Res Rev 2008 Jul

Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II
Ramos-Lopez E, et al.
BMC Med Genet 2008 Jul;9(1):65

Genetic variants in protein kinase C zeta gene and type 2 diabetes risk: a case-control study of a Chinese Han population
Qin L, et al.
Diabetes Metab Res Rev 2008 Jul

Polymorphisms in the selenoprotein S gene: lack of association with autoimmune inflammatory diseases
Martinez A, et al.
BMC Genomics 2008 Jul;9(1):329

Polymorphisms in human endogenous retrovirus K-18 and risk of type 2 diabetes in  individuals with schizophrenia
Dickerson F, et al.
Schizophr Res 2008 Jul

Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA Bank
Yang QH, et al.
Am J Clin Nutr 2008 Jul;88(1):232-46

Relation of Trp64Arg Polymorphism of Beta 3-Adrenergic Receptor Gene to Adipocytokines and Fat Distribution in Obese Patients
de Luis DA, et al.
Ann Nutr Metab 2008 Jul;52(4):267-71

 

Mental Disorders

Association between a polymorphism of the HTR3A gene and therapeutic response to  risperidone treatment in drug-naive Chinese schizophrenia patients
Gu B, et al.
Pharmacogenet Genomics 2008 Aug;18(8):721-7

High-activity variants of the uMAOA polymorphism increase the risk for depression in a large primary care sample
Rivera M, et al.
Am J Med Genet B Neuropsychiatr Genet 2008 Jul

Further evidence for a functional role of the glutamate receptor gene GRM3 in schizophrenia
Mossner R, et al.
Eur Neuropsychopharmacol 2008 Jul

A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction
Weiss RB, et al.
PLoS Genet 2008 Jul;4(7):e1000125

Variation in the purinergic P2RX(7) receptor gene and schizophrenia
Hansen T, et al.
Schizophr Res 2008 Jul

 

Diseases of the Nervous System and Sense Organs

HLA-DRB1(*)15 allele influences the later course of relapsing remitting multiple  sclerosis
Cournu-Rebeix I, et al.
Genes Immun 2008 Jul

The association of APOE genotype and cognitive decline in interaction with risk factors in a 65-69 year old community sample
Christensen H, et al.
BMC Geriatr 2008 Jul;8(1):14

Impact of APOE status on cognitive maintenance in healthy elderly persons
Zehnder AE, et al.
Int J Geriatr Psychiatry 2008 Jul

The Association between APOE Genotype and Memory Dysfunction in Subjects with Mild Cognitive Impairment Is Related to Age and Alzheimer Pathology
Ramakers IH, et al.
Dement Geriatr Cogn Disord 2008 Jul;26(2):101-8

Does the apolipoprotein epsilon 4 allele predispose varsity athletes to concussion? A prospective cohort study
Kristman VL, et al.
Clin J Sport Med 2008 Jul;18(4):322-8

Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients  from Southern Italy
De Rosa A, et al.
Parkinsonism Relat Disord 2008 Jul

VSX1 gene variants are associated with keratoconus in unrelated Korean patients
Mok JW, et al.
J Hum Genet 2008 Jul

A common haplotype within the PON1 promoter region is associated with sporadic ALS
Landers JE, et al.
Amyotroph Lateral Scler 2008 Jul:1-9

Odor identification impairment in carriers of ApoE-varepsilon4 is independent of  clinical dementia
Olofsson JK, et al.
Neurobiol Aging 2008 Jul

Cytokine gene polymorphisms and fatigue in breast cancer survivors: Early findings
Collado-Hidalgo A, et al.
Brain Behav Immun 2008 Jul

 

Diseases of the Circulatory System

Common genetic variation in six lipid-related and statin-related genes, statin use and risk of incident nonfatal myocardial infarction and stroke
Hindorff LA, et al.
Pharmacogenet Genomics 2008 Aug;18(8):677-82

Interactions between the single nucleotide polymorphisms in the homocysteine pathway (MTHFR 677C>T, MTHFR 1298 A>C, and CBSins) and the efficacy of HMG-CoA reductase inhibitors in preventing cardiovascular disease in high-risk patients of
hypertension: th
Maitland-van der Zee AH, et al.
Pharmacogenet Genomics 2008 Aug;18(8):651-6

Y2 receptor gene variants reduce the risk of hypertension in obese children and adolescents
Santoro N, et al.
J Hypertens 2008 Aug;26(8):1590-4

Job strain, job demands and adrenergic beta1-receptor-polymorphism: a possible interaction affecting blood pressure in men
Ohlin B, et al.
J Hypertens 2008 Aug;26(8):1583-9

beta-Adrenergic Receptor Gene Polymorphisms and beta-Blocker Treatment Outcomes in Hypertension
Pacanowski M, et al.
Clin Pharmacol Ther 2008 Jul

The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathy
Arvanitis DA, et al.
Eur Heart J 2008 Jul

Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome
Morgan TM, et al.
BMC Med Genet 2008 Jul;9(1):66

The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population
Wang N, et al.
Neurobiol Aging 2008 Jul

Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study
McArdle PF, et al.
BMC Med Genet 2008 Jul;9(1):67

Relation between AT1R Gene Polymorphism and Long-Term Outcome in Patients with Heart Failure
Amir O, et al.
Cardiology 2008 Jul;112(2):151-7

Apolipoprotein E (APOE) and lipoprotein lipase (LPL) gene variants and carotid atherosclerotic lesions in the oldest old: A population-based autopsy study
Myllykangas L, et al.
Arch Gerontol Geriatr 2008 Jul

 

Diseases of the Respiratory System

Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children
Cosar H, et al.
Eur J Clin Microbiol Infect Dis 2008 Jul

A polymorphism in the CCL2 chemokine gene is associated with asthma risk: a case-control and a family study in Tunisia
Chelbi H, et al.
Genes Immun 2008 Jul

Genetic variants of microsomal epoxide hydrolase and glutamate-cysteine ligase in COPD
Chappell S, et al.
Eur Respir J 2008 Jul

Genetic risk factors of bronchopulmonary dysplasia
Przemko K, et al.
Pediatr Res 2008 Jul

ARG1 is a Novel Bronchodilator Response Gene: Screening and Replication in Four Asthma Cohorts
Litonjua AA, et al.
Am J Respir Crit Care Med 2008 Jul

 

Diseases of the Digestive System

The SPINK1 N34S variant is associated with acute pancreatitis
O'reilly DA, et al.
Eur J Gastroenterol Hepatol 2008 Aug;20(8):726-31

The V249I polymorphism of the CX3CR1 gene is associated with fibrostenotic disease behavior in patients with Crohn's disease
Sabate JM, et al.
Eur J Gastroenterol Hepatol 2008 Aug;20(8):748-55

Prospective evaluation of the pharmacogenetics of azathioprine in the treatment of inflammatory bowel disease
Ansari A, et al.
Aliment Pharmacol Ther 2008 Jul

The 5q31 variants associated with psoriasis and Crohn's disease are distinct
Li Y, et al.
Hum Mol Genet 2008 Jul

 

Diseases of the Genitourinary System

ERCC1 and ERCC2 polymorphisms and risk of idiopathic azoospermia in a Chinese population
Ji G, et al.
Reprod Biomed Online 2008 Jul;17(1):36-41

Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility
Tamburino L, et al.
Reprod Biomed Online 2008 Jul;17(1):27-35

 

Diseases of the Skin and Subcutaneous Tissue

The autoimmune regulator gene (AIRE) is strongly associated with vitiligo
Tazi-Ahnini R, et al.
Br J Dermatol 2008 Jul

Association between tumor necrosis factor-alpha gene promoter polymorphism at position -308 and acne in Turkish patients
Baz K, et al.
Arch Dermatol Res 2008 Jul

Combination of short CAG and GGN repeats in the androgen receptor gene is associated with acne risk in North East China
Pang Y, et al.
J Eur Acad Dermatol Venereol 2008 Jul

 

Diseases of the Musculoskeletal System and Connective Tissue

The role of interleukin-10 promoter polymorphisms in primary Sjogren's syndrome
Willeke P, et al.
Scand J Rheumatol 2008 Jul-2008 Aug;37(4):293-9

Association of a TRAF1 and a STAT4 gene polymorphism with increased risk for rheumatoid arthritis in a genetically homogeneous population
Zervou MI, et al.
Hum Immunol 2008 Jul

Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in Rheumatoid Arthritis
Liu C, et al.
Mol Med 2008 Jul

No evidence of association or interactions between the IL-4, IL-4R alpha and IL-13 genes and rheumatoid arthritis
Marinou I, et al.
Arthritis Res Ther 2008 Jul;10(4):R80

 

Congenital Anomalies

RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population
Liu C, et al.
J Hum Genet 2008 Jul

Folate and Clefts of the Lip and Palate-A U.K.-Based Case-Control Study: Part II: Biochemical and Genetic Analysis
Little J, et al.
Cleft Palate Craniofac J 2008 Jul;45(4):428-38

 

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Page last reviewed: July 17, 2008 (archived document)
Content Source: National Office of Public Health Genomics