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Medicine and Health Sciences

Selected Works

2004

Polymorphism

Articles 1 - 5 of 5

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Investigation Of The Low-Density Lipoprotein Receptor Gene And Cholesterol As A Risk Factor For Migraine, R. Curtain, R. Lea, S. Quinlan, C. Bellis, L. Tajouri, R. Hughes, J. Macmillan, L. Griffiths Dec 2004

Investigation Of The Low-Density Lipoprotein Receptor Gene And Cholesterol As A Risk Factor For Migraine, R. Curtain, R. Lea, S. Quinlan, C. Bellis, L. Tajouri, R. Hughes, J. Macmillan, L. Griffiths

Lotti Tajouri

The Low-Density Lipoprotein Receptor (LDLR) gene is a cell surface receptor that plays an important role in cholesterol homeostasis. We investigated the (TA)n polymorphism in exon 18 of the LDLR gene on chromosome 19p13.2 performing an association analysis in 244 typical migraine-affected patients, 151 suffering from migraine with aura (MA), 96 with migraine without aura (MO) and 244 unaffected controls. The populations consisted of Caucasians only, and controls were age- and sex-matched. The results showed no significant difference between groups for allele frequency distributions of the (TA)n polymorphism even after separation of the migraine-affected individuals into subgroups of MA and …


The Progesterone Receptor Val660→Leu Polymorphism And Breast Cancer Risk, Immaculata De Vivo, Susan E. Hankinson, Graham A. Colditz, David J. Hunter Sep 2004

The Progesterone Receptor Val660→Leu Polymorphism And Breast Cancer Risk, Immaculata De Vivo, Susan E. Hankinson, Graham A. Colditz, David J. Hunter

Graham Andrew Colditz

Background Recent evidence suggests a role for progesterone in breast cancer development and tumorigenesis. Progesterone exerts its effect on target cells by interacting with its receptor; thus, genetic variations, which might cause alterations in the biological function in the progesterone receptor (PGR), can potentially contribute to an individual's susceptibility to breast cancer. It has been reported that the PROGINS allele, which is in complete linkage disequilibrium with a missense substitution in exon 4 (G/T, valine→leucine, at codon 660), is associated with a decreased risk for breast cancer. Methods Using a nested case-control study design within the Nurses' Health Study cohort, …


The Progesterone Receptor Val660→Leu Polymorphism And Breast Cancer Risk, Immaculata De Vivo, Susan E. Hankinson, Graham A. Colditz, David J. Hunter Sep 2004

The Progesterone Receptor Val660→Leu Polymorphism And Breast Cancer Risk, Immaculata De Vivo, Susan E. Hankinson, Graham A. Colditz, David J. Hunter

Susan E. Hankinson

Background Recent evidence suggests a role for progesterone in breast cancer development and tumorigenesis. Progesterone exerts its effect on target cells by interacting with its receptor; thus, genetic variations, which might cause alterations in the biological function in the progesterone receptor (PGR), can potentially contribute to an individual's susceptibility to breast cancer. It has been reported that the PROGINS allele, which is in complete linkage disequilibrium with a missense substitution in exon 4 (G/T, valine→leucine, at codon 660), is associated with a decreased risk for breast cancer. Methods Using a nested case-control study design within the Nurses' Health Study cohort, …


Investigation Of An Inducible Nitric Oxide Synthase Gene (Nos2a) Polymorphism In A Multiple Sclerosis Population, Lotti Tajouri, Virginie Martin, Micky Ovcaric, Rob Curtain, Rod Lea, Peter Csurhes, Michael Pender, Lyn Griffiths Jul 2004

Investigation Of An Inducible Nitric Oxide Synthase Gene (Nos2a) Polymorphism In A Multiple Sclerosis Population, Lotti Tajouri, Virginie Martin, Micky Ovcaric, Rob Curtain, Rod Lea, Peter Csurhes, Michael Pender, Lyn Griffiths

Lotti Tajouri

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) affecting most commonly the Caucasian population. Nitric oxide (NO) is a biological signaling and effector molecule and is especially important during inflammation. Inducible nitric oxide synthase (iNOS) is one of the three enzymes responsible for generating NO. It has been reported that there is an excessive production of NO in MS concordant with an increased expression of iNOS in MS lesions. This study investigated the role of a bi-allelic tetranucleotide polymorphism located in the promoter region of the human iNOS (NOS2A) gene in MS susceptibility. A …


Investigation Of A Neuronal Nitric Oxide Synthase Gene (Nos1) Polymorphism In A Multiple Sclerosis Population, Lotti Tajouri, Linda Ferreira, Micky Ovcaric, Rob Curtain, Rod Lea, Peter Csurhes, Michael Pender, Lyn Griffiths Mar 2004

Investigation Of A Neuronal Nitric Oxide Synthase Gene (Nos1) Polymorphism In A Multiple Sclerosis Population, Lotti Tajouri, Linda Ferreira, Micky Ovcaric, Rob Curtain, Rod Lea, Peter Csurhes, Michael Pender, Lyn Griffiths

Lotti Tajouri

Multiple Sclerosis (MS) is a chronic neurological disease characterized by demyelination associated with infiltrating white blood cells in the central nervous system (CNS). Nitric oxide synthases (NOS) are a family of enzymes that control the production of nitric oxide. It is possible that neuronal NOS could be involved in MS pathophysiology and hence the nNOS gene is a potential candidate for involvement in disease susceptibility. The aim of this study was to determine whether allelic variation at the nNOS gene locus is associated with MS in an Australian cohort. DNA samples obtained from a Caucasian Australian population affected with MS …