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Genomics and Health Weekly Update

Human Genome Epidemiology (HuGE) Articles
February 7, 2008
Volume 20, No. 6

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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

Molecular genotyping and frequencies of A ( 1 ), A ( 2 ), B, O ( 1 ) and O ( 2 )  alleles of the ABO blood group system in a Kuwaiti population
El-Zawahri MM & Luqmani YA
Int J Hematol 2008 Feb

[Genetic polymorphism of the PRODH and 5-HT(2A) receptor gene in Korean-Chinese and Han nationality in Chinese Yanbian area.]
Jiang W, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Feb;25(1):93-5

Prevalence of common disease-associated variants in Asian Indians
Pemberton TJ, et al.
BMC Genet 2008 Feb;9(1):13

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco
Ratbi I, et al.
J Cyst Fibros 2008 Jan

 

Infectious and Parasitic Diseases

Susceptibility to active decompensated cirrhosis is associated with polymorphisms of intercellular adhesion molecule-1 (ICAM-1) in chronic HBV carriers
Zhang XQ, et al.
J Viral Hepat 2008 Mar;15(3):173-8

Variation in HLA Class I Antigen-Processing Genes and Susceptibility to Human Papillomavirus Type 16-Associated Cervical Cancer
Deshpande A, et al.
J Infect Dis 2008 Feb;197(3):371-81

Association between Cryptosporidium Infection and Human Leukocyte Antigen Class I and Class II Alleles
Kirkpatrick BD, et al.
J Infect Dis 2008 Feb;197(3):474-8

The Effect of Trim5 Polymorphisms on the Clinical Course of HIV-1 Infection
van Manen D, et al.
PLoS Pathog 2008 Feb;4(2):e18

Protein C -1641A/-1654C haplotype is associated with organ dysfunction and the fatal outcome of severe sepsis in Chinese Han population
Chen QX, et al.
Hum Genet 2008 Feb

 

Neoplasms

Lack of a relationship between the common 18q24 variant rs12953717 and risk of chronic lymphocytic leukemia
Broderick P, et al.
Leuk Lymphoma 2008 Feb;49(2):271-2

A single-nucleotide polymorphism in the aromatase gene is associated with the efficacy of the aromatase inhibitor letrozole in advanced breast carcinoma
Colomer R, et al.
Clin Cancer Res 2008 Feb;14(3):811-6

Association of some rare haplotypes and genotype combinations in the MDR1 gene with childhood acute lymphoblastic leukaemia
Semsei AF, et al.
Leuk Res 2008 Feb

Association between Phosphatidylinositol 3-Kinase Regulatory Subunit p85{alpha} Met326Ile Genetic Polymorphism and Colon Cancer Risk
Li L, et al.
Clin Cancer Res 2008 Feb;14(3):633-7

H pylori (CagA) and Epstein-Barr virus infection in gastric carcinomas: Correlation with p53 mutation and c-Myc, Bcl-2 and Bax expression
Lima VP, et al.
World J Gastroenterol 2008 Feb;14(6):884-91

Association of some rare haplotypes and genotype combinations in the MDR1 gene with childhood acute lymphoblastic leukaemia
Semsei AF, et al.
Leuk Res 2008 Feb

The UGT2B17 gene deletion is not associated with prostate cancer risk
Olsson M, et al.
Prostate 2008 Feb

Modifying effects of IL-6 polymorphisms on body size-associated breast cancer risk
Slattery ML, et al.
Obesity (Silver Spring) 2008 Feb;16(2):339-47

Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms and toxicity to capecitabine in advanced colorectal cancer patients
Sharma R, et al.
Clin Cancer Res 2008 Feb;14(3):817-25

8q24 and prostate cancer: association with advanced disease and meta-analysis
Cheng I, et al.
Eur J Hum Genet 2008 Jan

 

Endocrine, Nutritional and Metabolic Diseases

Interaction of single nucleotide polymorphisms in ADRB2, ADRB3, TNF, IL6, IGF1R,  LIPC, LEPR, and GHRL with physical activity on the risk of type 2 diabetes mellitus and changes in characteristics of the metabolic syndrome: The Finnish Diabetes
Kilpelainen T, et al.
Metabolism 2008 Mar;57(3):428-36

Effects of TCF7L2 Polymorphisms on Obesity in European Populations
Cauchi S, et al.
Obesity (Silver Spring) 2008 Feb;16(2):476-82

Analysis of beta2-adrenergic receptor gene (beta2AR) Arg16Gly polymorphism in patients with endogenous hypertriglyceridemia in Chinese population
Wu H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Feb;25(1):50-4

A mitochondrial DNA variant at position 16189 is associated with type 2 diabetes  mellitus in Asians
Park KS, et al.
Diabetologia 2008 Feb

The effects of endothelial nitric oxide synthase gene polymorphisms on endothelial function and metabolic risk factors in healthy subjects: the significance of plasma adiponectin levels
Imamura A, et al.
Eur J Endocrinol 2008 Feb;158(2):189-95

Association of +45G15G(T/G) and +276(G/T) polymorphisms in the ADIPOQ gene with polycystic ovary syndrome among Han Chinese women
Zhang N, et al.
Eur J Endocrinol 2008 Feb;158(2):255-60

Association of the MC4R V103I Polymorphism With the Metabolic Syndrome: The KORA  Study
Heid IM, et al.
Obesity (Silver Spring) 2008 Feb;16(2):369-76

Genes Implicated in Serotonergic and Dopaminergic Functioning Predict BMI Categories
Fuemmeler BF, et al.
Obesity (Silver Spring) 2008 Feb;16(2):348-55

Adrenergic beta(1) Receptor Polymorphism (Ser49Gly) Is Associated with Obesity in Type II Diabetic Patients
Nonen S, et al.
Biol Pharm Bull 2008 Feb;31(2):295-8

Association of APOC3 Polymorphisms with Both Dyslipidemia and Lipoatrophy in HAART-Receiving Patients
Bonnet E, et al.
AIDS Res Hum Retroviruses 2008 Feb

Investigating the association between inhibin alpha gene promoter polymorphisms and premature ovarian failure
Woad KJ, et al.
Fertil Steril 2008 Feb

Contribution of the Functional 5-HTTLPR Variant of the SLC6A4 Gene to Obesity Risk in Male Adults
Sookoian S, et al.
Obesity (Silver Spring) 2008 Feb;16(2):488-91

Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors
Alonso R, et al.
Atherosclerosis 2008 Feb

Polymorphism in postinsulin receptor signaling pathway is not associated with polycystic ovary syndrome
Jones MR, et al.
Fertil Steril 2008 Feb

Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: Under-representation of the common c.985 A > G mutation in the New York state population
Nichols MJ, et al.
Am J Med Genet A 2008 Feb

Interactions between secondhand smoke and genes that affect cystic fibrosis lung  disease
Collaco JM, et al.
JAMA 2008 Jan;299(4):417-24

 

Diseases of the Blood & Blood-Forming Organ Disorders

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of {beta}-thalassemia
Uda M, et al.
Proc Natl Acad Sci U S A 2008 Feb

 

Mental Disorders

An evaluation of mu-opioid receptor (OPRM1) as a predictor of naltrexone response in the treatment of alcohol dependence: results from the Combined Pharmacotherapies and Behavioral Interventions for Alcohol Dependence (COMBINE) study
Anton RF, et al.
Arch Gen Psychiatry 2008 Feb;65(2):135-44

A replicated molecular genetic basis for subtyping antisocial behavior in children with attention-deficit/hyperactivity disorder
Caspi A, et al.
Arch Gen Psychiatry 2008 Feb;65(2):203-10

Influence of child abuse on adult depression: moderation by the corticotropin-releasing hormone receptor gene
Bradley RG, et al.
Arch Gen Psychiatry 2008 Feb;65(2):190-200

Glucocorticoid Receptor Gene Polymorphisms in Premenopausal Women with Major Depression
Krishnamurthy P, et al.
Horm Metab Res 2008 Feb

A functional polymorphism of the micro-opioid receptor gene is associated with completed suicides
Hishimoto A, et al.
J Neural Transm 2008 Feb

 

Diseases of the Nervous System and Sense Organs

Interleukin gene polymorphisms in age-related macular degeneration
Tsai YY, et al.
Invest Ophthalmol Vis Sci 2008 Feb;49(2):693-8

Apolipoprotein E genotype and memory in the sixth decade of life
Schultz MR, et al.
Neurology 2008 Jan

Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non-APOE-epsilon4 carriers
Aidaralieva NJ, et al.
J Hum Genet 2008 Jan

Diseases of the Circulatory System

Association of the Glu298Asp polymorphism of the eNOS Gene with ischemic heart disease in Japanese diabetic subjects
Tamemoto H, et al.
Diabetes Res Clin Pract 2008 Feb

Cholesteryl ester transfer protein genetic polymorphisms, HDL cholesterol, and subclinical cardiovascular disease in the Multi-Ethnic Study of Atherosclerosis
Tsai MY, et al.
Atherosclerosis 2008 Feb

Intron F G79a polymorphism of the protein Z gene in cancer patients with and without thrombosis
Eroglu A, et al.
J Thromb Thrombolysis 2008 Feb

Study on the association of -689C/T polymorphism in the PPARgamma2 promoter with myocardial infarction
Li J, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Feb;25(1):19-22

A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids
Haghighi K, et al.
Hum Mutat 2008 Feb

Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome
Limongelli G, et al.
Am J Med Genet A 2008 Feb

Renin-Angiotensin System Gene Polymorphisms and Atrial Fibrillation: A Regression Approach for the Detection of Gene-Gene Interactions in a Large Hospitalized Population
Tsai CT, et al.
Cardiology 2008 Feb;111(1):1-7

Association Between the Paraoxonase-1 192Q>R Allelic Variant and Coronary Endothelial Dysfunction in Patients With Early Coronary Artery Disease
Lavi S, et al.
Mayo Clin Proc 2008 Feb;83(2):158-64

Chromosome 9p21.3 Coronary Heart Disease Locus Genotype and Prospective Risk of CHD in Healthy Middle-Aged Men
Talmud PJ, et al.
Clin Chem 2008 Feb

 

Diseases of the Respiratory System

The -1082 interleukin-10 polymorphism is associated with acute respiratory failure after major trauma: a prospective cohort study
Schroeder O, et al.
Surgery 2008 Feb;143(2):233-42

Regulatory Role of Promoter and 3' UTR Variants of Vitamin D Receptor Gene on Cytokine Response in Pulmonary Tuberculosis
Selvaraj P, et al.
J Clin Immunol 2008 Jan

 

Diseases of the Digestive System

Coding-sequence point mutation and polymorphism analyses of SIP1 gene in Hirschsprung disease
Gao H, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Feb;25(1):82-5

Interleukin-4 (C-590T) and interferon-gamma (G5644A) gene polymorphisms in patients with periodontitis
Hooshmand B, et al.
J Periodontal Res 2008 Feb;43(1):111-5

The interleukin-10 promoter haplotype ATA is a putative risk factor for aggressive periodontitis
Reichert S, et al.
J Periodontal Res 2008 Feb;43(1):40-7

Genotype-phenotype analysis of the CXCL16 p.Ala181Val polymorphism in inflammatory bowel disease
Seiderer J, et al.
Clin Immunol 2008 Jan

Monocyte-derived dendritic cells from Crohn patients show differential NOD2/CARD15-dependent immune responses to bacteria
Salucci V, et al.
Inflamm Bowel Dis 2008 Jan

The Role of Mannan-Binding Lectin (MBL) Gene Polymorphism in Ulcerative Colitis
Wang FY, et al.
J Clin Biochem Nutr 2008 Jan;42:54-8

Genetic polymorphisms of TNF receptor superfamily 1A and 1B (TNFRSF1A and TNFRSF1B) affect responses to Infliximab in Crohn's disease patients in Japan
Matsukura H, et al.
Aliment Pharmacol Ther 2008 Jan

 

Diseases of the Genitourinary System

XRCC4 codon 247*A and XRCC4 promoter -1394*T related genotypes but not XRCC4 intron 3 gene polymorphism are associated with higher susceptibility for endometriosis
Hsieh YY, et al.
Mol Reprod Dev 2008 Feb

Association of urokinase gene 3'-UTR T/C polymorphism with calcium oxalate urolithiasis in children
Ozturk M, et al.
Int Urol Nephrol 2008 Feb

Chromogranin A Polymorphisms Are Associated With Hypertensive Renal Disease
Salem RM, et al.
J Am Soc Nephrol 2008 Jan

 

Complications of Pregnancy, Childbirth, and the Puerperium

Association between CYP1A1 gene polymorphism and intrahepatic cholestasis of pregnancy
Wang X, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 Feb;25(1):70-2

 

Diseases of the Skin and Subcutaneous Tissue

Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris
Chen H, et al.
J Invest Dermatol 2008 Jan

 

Diseases of the Musculoskeletal System and Connective Tissue

Association of the HLA-DRB1 gene with premature death, particularly from cardiovascular disease, in patients with rheumatoid arthritis and inflammatory polyarthritis
Farragher TM, et al.
Arthritis Rheum 2008 Jan;58(2):359-69

Haplotypes of the HRES-1 endogenous retrovirus are associated with development and disease manifestations of systemic lupus erythematosus
Pullmann R Jr, et al.
Arthritis Rheum 2008 Jan;58(2):532-40

Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis
Rodriguez-Lopez J, et al.
Arthritis Rheum 2008 Jan;58(2):435-41

The HLA-DRB1 shared epitope is associated with susceptibility to rheumatoid arthritis in African Americans through European genetic admixture
Hughes LB, et al.
Arthritis Rheum 2008 Jan;58(2):349-58

 

Symptoms, Signs and Ill-defined Conditions

Association between APOE {varepsilon}2/{varepsilon}3/{varepsilon}4 polymorphism and disability severity in a national long-term care survey sample
Kulminski A, et al.
Age Ageing 2008 Feb

CYP4F2 genetic variant alters required warfarin dose
Caldwell MD, et al.
Blood 2008 Feb

 

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Page last reviewed: February 7, 2008 (archived document)
Content Source: National Office of Public Health Genomics