Molecular Diagnosis of Wilson Disease Using Prevalent Mutations and Informative Single-Nucleotide Polymorphism Markers

Gupta, Arnab; Maulik, Mahua; Nasipuri, Poonam; Chattopadhyay, Ishita; Das, Shyamal Kumar; Gangopadhyay, Prasanta Kumar; Ray, Kunal

doi:10.1373/clinchem.2007.086066

Cited by 40 publications

(33 citation statements)

References 33 publications

(11 reference statements)

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“…We selected the set of genetic markers developed by Gupta and colleagues 15 as informative SNPs to analyze the genetic structure of ATP7B. To confirm its validity for the Italian population, we performed a LD analysis in the HapMap database (available on http://hapmap.ncbi.nlm.nih.gov) considering Tuscans in Italy (TSI), which is the HapMap population most genetically related to our study population.…”

Section: Resultsmentioning

confidence: 99%

“…In 2007, Gupta and colleagues developed a useful method to determine genotype in sibs who do not harbor the prevalent mutations of the family member with WD, based on intragenic SNP markers with high heterozygosity values in the study population. 15 On the basis of this method, we screened a case-control population for informative SNPs to analyze the structure of the ATP7B gene in patients with AD and in healthy elderly controls and to identify genetic regions that may harbor susceptibility loci for AD.…”

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confidence: 99%

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Linkage Disequilibrium and Haplotype Analysis of theATP7BGene in Alzheimer's Disease

Squitti

Polimanti

Bucossi

et al. 2013

Rejuvenation Research

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Copper dyshomeostasis leading to a labile Cu 2 + not bound to ceruloplasmin (''free'' copper) may influence Alzheimer's disease (AD) onset or progression. To investigate this hypothesis, we investigated ATP7B, the gene that controls copper excretion through the bile and concentrations of free copper in systemic circulation. Our study analyzed informative ATP7B single-nucleotide polymorphisms (SNPs) in a case-control population (n = 515). In particular, we evaluated the genetic structure of the ATP7B gene using the HapMap database and carried out a genetic association investigation. Linkage disequilibrium (LD) analysis highlighted that our informative SNPs and their LD SNPs covered 96% of the ATP7B gene sequence, distinguishing two ''strong LD'' blocks. The first LD block contains the gene region encoding for transmembrane and copper-binding, whereas the second LD block encodes for copper-binding domains. The genetic association analysis showed significant results after multiple testing correction for all investigated variants (rs1801243, odds ratio [OR] = 1.52, 95% confidence interval [CI] = 1.10-2.09, p = 0.010; rs2147363, OR = 1.58, 95% CI = 1.11-2.25, p = 0.010; rs1061472, OR = 1.73, 95% CI = 1.23-2.43, p = 0.002; rs732774, OR = 2.31, 95% CI = 1.41-3.77, p < 0.001), indicating that SNPs in transmembrane domains may have a stronger association with AD risk than variants in copper-binding domains. Our study provides novel insights that confirm the role of ATP7B as a potential genetic risk factor for AD. The analysis of ATP7B informative SNPs confirms our previous hypothesis about the absence of ATP7B in the significant loci of genome-wide association studies of AD and the genetic association study suggests that transmembrane and adenosine triphosphate (ATP) domains in the ATP7B gene may harbor variants/haplotypes associated with AD risk.

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Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

Linkage Disequilibrium and Haplotype Analysis of theATP7BGene in Alzheimer's Disease

Squitti

Polimanti

Bucossi

et al. 2013

Rejuvenation Research

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“…The mutationLys1010Arg (c.3029A>G) was previously reported by Santhosh et al (2006) and Gupta et al (2007) in South Indian hepatic patients, while Dong et al found it in 16% of the Chinese patients with WD.…”

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confidence: 69%

Mutational Analysis of Exon 10 and Exon 13 of Atp7b Gene in Patients With Wilson’s Disease.

Shamran¹,

Jameel²,

Hamza³

2016

IJAR

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“…The Taqman allelic discrimination reported a valid technique for efficient screening of common mutation in index patient and sibs [39]. Single nucleotide polymorphism (SNP) have also been studied in combination with the prevalent mutations for WND diagnosis and evaluated as a comprehensive strategy for the detection presymptomatic or carrier sibs of WND patients [40].…”

Section: Resultsmentioning

confidence: 99%

PCR in Disease Diagnosis of WND

Majeed¹,

Naveed²,

Rehman³

et al. 2012

Polymerase Chain Reaction

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Molecular Diagnosis of Wilson Disease Using Prevalent Mutations and Informative Single-Nucleotide Polymorphism Markers

Cited by 40 publications

References 33 publications

Linkage Disequilibrium and Haplotype Analysis of theATP7BGene in Alzheimer's Disease

Linkage Disequilibrium and Haplotype Analysis of theATP7BGene in Alzheimer's Disease

Mutational Analysis of Exon 10 and Exon 13 of Atp7b Gene in Patients With Wilson’s Disease.

PCR in Disease Diagnosis of WND

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