Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

Santer, René; Kinner, Martina; Steuerwald, Ulrike; Kjærgaard, Susanne; Skovby, Flemming; Simonsen, Henrik Toft; Shaiu, Wen‐Ling; Chen, Yuan-Tsong; Schneppenheim, Reinhard; Schaub, J.

doi:10.1038/sj.ejhg.5200632

Cited by 65 publications

(49 citation statements)

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“…The p.Trp680X mutation was described previously in a compound heterozygote patient, in whom it was linked to the IIIb phenotype (Shen et al 1996), which is in contrast to what we found in our patients. Interestingly, all our patients with the c.2039G>A, p.Trp680X mutation were from the same topographic region and ethnic origin, making a founder effect feasible, as seen for the c.1222C>T, p. Arg408X mutation on the Faroe Islands (Santer et al 2001). However, in order to prove this, haplotyping for these patients would be required, which we have not done in this study.…”

Section: Discussionmentioning

confidence: 81%

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Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

et al. 2012

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Section: Discussionmentioning

confidence: 81%

“…Her other mutation, p.Arg408X, was previously described (Santer et al 2001;Lam et al 2004) and associated with the GSD IIIa phenotype. This corresponds with her phenotype: hepatomegaly and elevated transaminases.…”

Section: Discussionmentioning

confidence: 92%

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

et al. 2012

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“…The long distances between the villages, commercial monopoly, and legislation, imposed further isolation between different geographical areas on the Faroe Islands. 19 Increased occurrence of diseases caused by specific gene mutations, like cystic fibrosis and glycogen storage disease IIIA, has been reported on the Faroe Islands, 20,21 and a locus for primary ciliary dyskinesia has been identified in Faroese families. 22 The Faroese population has, in addition, been used to localize interesting chromosome regions for bipolar affective disorder and schizophrenia.…”

Section: Introductionmentioning

confidence: 99%

A genome-wide search for alleles and haplotypes associated with autism and related pervasive developmental disorders on the Faroe Islands

et al. 2005

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The involvement of genetic factors in the etiology of autism has been clearly established. We undertook a genome-wide search for regions containing susceptibility genes for autism in 12 subjects with childhood autism and related pervasive developmental disorders (PDDs) and 44 controls from the relatively isolated population of the Faroe Islands. In total, 601 microsatellite markers distributed throughout the human genome with an average distance of 5.80 cM were genotyped, including 502 markers in the initial scan. The Faroese population structure and genetic relatedness of cases and controls were also evaluated. Based on a combined approach, including an assumption-free test as implemented in CLUMP, Fisher's exact test for specific alleles and haplotypes, and IBD 0 probability calculations, we found association between autism and microsatellite markers in regions on 2q, 3p, 6q, 15q, 16p, and 18q. The most significant finding was on 3p25.3 (P T1 ¼ 0.00003 and P T4 ¼ 0.00007), which was also supported by other genetic studies. Furthermore, no evidence of population substructure was found, and a higher degree of relatedness among cases could not be detected, decreasing the risk of inflated P-values. Our data suggest that markers in these regions are in linkage disequilibrium with genes involved in the etiology of autism, and we hypothesize susceptibility genes for autism and related PDDs to be localized within these regions.

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“…Examples of diseases are glycogen storage disease type IIIA (GSD IIIA) [18], hereditary hemochromatosis HFE [19], cystic fibrosis CF [20], primary ciliary dyskinesia [17] and classical non-AIDS-related Kaposi's sarcoma [21].…”

Section: The Faroe Islands Include 18 Islands Situated Northwest Of Smentioning

confidence: 99%

Polymorphism of CYP2D6, CYP2C19, CYP2C9 and CYP2C8 in the Faroese population

Halling

Petersen

Damkier

et al. 2005

Eur J Clin Pharmacol

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Objective: The purpose of the study was to study the distribution of poor and extensive metabolizers of CYP2C19 and CYP2D6 and to genotype for CYP2C8 and CYP2C9 among 312 randomly selected Faroese. Methods and Results:The participants were phenotyped for CYP2D6 with the use of sparteine. The distribution of the sparteine metabolic ratio (sparteine/didehydrosparteines) was bimodal, and 14.5% (n=44) (95% CI 10.7-18.9%) of the subjects were phenotyped as poor metabolizers. The frequency of poor metabolizers was higher (P=0.0002; χ 2 test) among the Faroese than in other European populations (7.4%). Genotype analysis for the CYP2D6*3, *4, *6 and *9 alleles were performed using real-time PCR (TaqMan®), and we found 14.6% (n=45) (95% CI 10.8-19.0%) with deficient CYP2D6 genes (*3/*4, *4/*4, *4/*6, *6/*6) in the Faroese population.The subjects were phenotyped for CYP2C19 with the use of mephenytoin and 10 subjects, i.e. 3.2% (95% CI 1.6-5.9%) were phenotyped as poor metabolizers. Genotype analysis for the CYP2C19*2 and *3 alleles was performed by PCR analysis and 2.9% (n=9) (95% CI 1.3-5.4%) of the Faroese were found to have a deficient CYP2C19 gene all explained by the CYP2C19*2/*2 genotype. The allele frequencies of the CYP2C9*2 and CYP2C9*3 alleles were 8.8% (95% CI 6.7-11.4%) and 5.3% (95% CI 3.7-7.4%), respectively, while the CYP2C8*3 allele frequency was 6.9% (95% CI 5.0-9.2%). Real-time PCR (TaqMan®) was used for both CYP2C9 and CYP2C8 genotype analyses. Conclusion:The frequency of CYP2D6 poor metabolizers is two fold higher among the Faroese population compared to other Caucasians, while the frequencies of Faroese subjects with decreased CYP2C19, CYP2C8 and CYP2C9 enzyme activity are the same as seen in other Caucasian populations. A possible consequence might be a higher incidence of side effects among Faroese patients taking pharmaceuticals that are CYP2D6 substrates.

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Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

Cited by 65 publications

References 3 publications

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

A genome-wide search for alleles and haplotypes associated with autism and related pervasive developmental disorders on the Faroe Islands

Polymorphism of CYP2D6, CYP2C19, CYP2C9 and CYP2C8 in the Faroese population

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