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  • Haplotype analysis of the IGF2-INS-TH gene cluster in Parkinson’s disease.

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    Author(s)
    Sutherland, Greg
    Mellick, George
    Newman, Jeremy
    Double, Kay L
    Stevens, Julia
    Lee, Linda
    Rowe, Dominic
    Silburn, Peter
    Halliday, Glenda M
    Griffith University Author(s)
    Silburn, Peter A.
    Newman, Jeremy R.
    Mellick, George
    Sutherland, Greg T.
    Year published
    2008
    Metadata
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    Abstract
    Idiopathic Parkinson's disease is a common movement disorder characterized by a loss of dopaminergic neurons in the substantia nigra. Its pathogenesis is postulated to involve complex interactions between genetic susceptibility and environmental exposures. The IGF2-INS-TH gene cluster on the telomeric end of human chromosome 11 is a gene rich region expressing several proteins important for dopamine neuron homeostasis. We used a haplotyping approach to determine whether common genetic variation in the IGF2-INS-TH cluster influences the risk of idiopathic Parkinson's disease in a Caucasian case-control group recruited from ...
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    Idiopathic Parkinson's disease is a common movement disorder characterized by a loss of dopaminergic neurons in the substantia nigra. Its pathogenesis is postulated to involve complex interactions between genetic susceptibility and environmental exposures. The IGF2-INS-TH gene cluster on the telomeric end of human chromosome 11 is a gene rich region expressing several proteins important for dopamine neuron homeostasis. We used a haplotyping approach to determine whether common genetic variation in the IGF2-INS-TH cluster influences the risk of idiopathic Parkinson's disease in a Caucasian case-control group recruited from Brisbane, Australia. Three tagging polymorphisms, the SNPs, rs680 and rs689 and the microsatellite, HUMTH01, were genotyped in 215 cases and 215 age- and gender-matched controls. Eight common haplotypes accounted for 91% of the genetic variation in our control group and one haplotype, IGF2-INS-TH*6, was significantly under-represented among the cases with idiopathic Parkinson's disease (OR = 0.42, 95% CI = 0.25-0.72, P-value = 0.001). Analysis of the individual polymorphisms showed that the IGF2-rs680 alternate 'A' allele accounted for the majority of the protective effect. Our findings suggest that common genetic variants in the IGF2-INS-TH cluster modify susceptibility to idiopathic Parkinson's disease.
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    Journal Title
    Am J Med Genet B Neuropsychiatr Genet.
    Volume
    147B
    Issue
    4
    DOI
    https://doi.org/10.1002/ajmg.b.30633
    Copyright Statement
    © 2008 Wiley-Liss, Inc. This is the pre-peer reviewed version of the following article: Haplotype analysis of the IGF2-INS-TH gene cluster in Parkinson's disease, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Volume 147B, Issue 4, pages 495–499, 5 June 2008, which has been published in final form at http://dx.doi.org/10.1002/ajmg.b.30633
    Subject
    Genetics
    Clinical Sciences
    Neurosciences
    Publication URI
    http://hdl.handle.net/10072/22557
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    • Journal articles

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