The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

Hästbacka, Johanna; Chapelle, Albert de la; Mahtani, Melanie M.; Clines, G.; Reeve-Daly, Mary Pat; Daly, Mark J.; Hamilton, Bruce A.; Kusumi, Kenro; Trivedi, Bijal; Weaver, Alix; Coloma, Antonio; Lovett, Michael; Buckler, Alan; Kaitila, Ilkka; Lander, Eric S.

doi:10.1016/0092-8674(94)90281-x

Cited by 680 publications

(523 citation statements)

References 66 publications

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“…For the IL-1RN (VNTR), a statistically significant difference was found between patients and controls in the genotypic distribution ( Figure 1, MLw 2 [2] ¼ 7.97, P ¼ 0.019), but no significant difference was found for allelic distribution (Table 2). For the other IL-1 cluster polymorphisms, no significant differences were found between patients and controls for both genotypic and allelic frequencies ( Figure 1 and Table 2, respectively).…”

Section: Il-1b(+3953)mentioning

confidence: 99%

“…Linkage disequilibrium (LD) analysis, which exploits recombination events over many generations for fine mapping, has also been used to test the involvement of candidate genes in diseases and to refine the location of disease genes in regions identified by linkage. [1][2][3][4] Fairly recently, such association studies have been proposed as potentially powerful for detecting the many subtle genetic effects underlying susceptibility to common diseases. 5,6 In contrast to linkage studies, which look for coinheritance of chromosomal regions with disease in families, association studies look for differences in the frequency of genetic variants between unrelated affected individuals and controls, with the expectation that a riskconferring variant and/or alleles on the disease haplotype will be more common in patients.…”

Section: Introductionmentioning

confidence: 99%

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Linkage disequilibrium analysis of case–control data: an application to generalized aggressive periodontitis

et al. 2004

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Several studies have shown a role for the involvement of interleukin (IL)-1 gene cluster polymorphisms in the risk of periodontal diseases. In the present study, we tested polymorphisms, derived from genes of the IL-1 cluster, for association with generalized aggressive periodontitis (GAP) through both allelic association and by constructing a linkage disequilibrium (LD) map of the 2q13-14 disease candidate region. The IL-1RN (VNTR) genotype distribution observed was significantly different in GAP and control subjects (P ¼ 0.019). We also observed some evidence for an association between GAP and the IL-1B þ 3953 polymorphism (P ¼ 0.039). The pattern of association in the region, represented as an LD map, identifies a recombination hot area between the IL-1B þ 3953 and IL-1B À511 polymorphisms. Multilocus modelling of association with disease gives a location for the peak association at the IL-1B þ 3953 marker, although support for the peak is not significant. Haplotype analysis identifies a IL-1B þ 3953 -IL-1B À511 haplotype as having the lowest P-value in the region. Recognition of the presence of a recombination hot area between the IL-1B þ 3953 and IL-1B À511 polymorphisms will have an important bearing on future efforts to develop higher resolution SNP analysis in this region for both this and other diseases for which this cluster is implicated.

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Section: Il-1b(+3953)mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Linkage disequilibrium analysis of case–control data: an application to generalized aggressive periodontitis

et al. 2004

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“…In this disorder, a novel sulfate transporter is disrupted, leading to undersulfation of proteoglycans such as chondroitin sulfate (Hastbacka et al, 1994). While these results clearly demonstrate that the extracellular matrix is required as the major component of cartilage and bone, they also implicate the extracellular matrix as a signal for the regulation of chondrocyte differentiation (Cancedda et al, 1995).…”

Section: D Homeobox Genes In Chondrogenesis-mentioning

confidence: 90%

Molecular basis for skeletal variation: insights from developmental genetic studies in mice

Kappen

Neubüser

Balling

et al. 2007

Birth Defects Research Pt B

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Skeletal variations are common in humans, and potentially are caused by genetic as well as environmental factors. We here review molecular principles in skeletal development to develop a knowledge base of possible alterations that could explain variations in skeletal element number, shape or size. Environmental agents that induce variations, such as teratogens, likely interact with the molecular pathways that regulate skeletal development. Birth Defects Res (Part B), 80:425–450, 2007. © 2007 Wiley‐Liss, Inc.

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“…32 P excess represents an estimate of the proportion of disease chromosomes carrying the associated allele and is calculated as P excess ¼(P a ÀP n )/(1ÀP n ) where P a is the frequency of the associated allele on disease chromosomes and P n is the frequency of the same allele on normal chromosomes. 33 SNPs identified by sequencing showing variation in our patient or control material were investigated for association to MD. The patient group consisted of probands from each of the MD families (n¼14).…”

Section: Allelic Association and Haplotype Analysesmentioning

confidence: 99%

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

et al. 2010

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Meniere's disease (MD) is a disorder of the inner ear characterized by episodes of vertigo, tinnitus and fluctuating sensorineural hearing loss. Most MD cases are sporadic, but 5-15% of patients are familial following an autosomal dominant mode of inheritance with incomplete penetrance. We have previously identified a candidate gene region for MD on chromosome 12p12.3 using linkage analysis. We genotyped 15 Swedish families segregating familial MD (FMD) to further clarify the role of chromosome 12p in a larger cohort of families. Highly polymorphic marker loci were analyzed over the 16-Mb candidate region in affected and healthy family members as well as in control subjects. The results revealed allelic association between FMD and several individual polymorphic marker alleles and single-nucleotide polymorphisms. Moreover, a common three-marker haplotype spanning 1.48 Mb co-segregates with FMD in 60% of the families investigated, forming the core of a possible ancestral haplotype associated with FMD in Sweden.

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The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

Cited by 680 publications

References 66 publications

Linkage disequilibrium analysis of case–control data: an application to generalized aggressive periodontitis

Linkage disequilibrium analysis of case–control data: an application to generalized aggressive periodontitis

Molecular basis for skeletal variation: insights from developmental genetic studies in mice

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

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