Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.

Pécheux, Christophe; Mouret, Jean-Francois; Dürr, Alexandra; Agid, Yves; Feingold, Josué; Brice, Alexis; Dodé, Catherine; Kaplan, J.-C.

doi:10.1136/jmg.32.5.399

Cited by 27 publications

(24 citation statements)

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“…c The alleles of the VNTR loci in the HD promoter are named according to the number of repeat units. d The variation in the length of the polyproline repeat stems from variation in the number of CCGs and/or CCTs (39). Sequencing of patients from families with known haplotypes showed that the allele designated ÔCCG7' was (CCG) 7 (CCT) 2 , whereas the allele designated ÔCCG8' was (CCG) 7 (CCT) 3 .…”

Section: Resultsmentioning

confidence: 99%

4p16.3 haplotype modifying age at onset of Huntington disease

et al. 2009

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Huntington disease (HD) is caused by an expanded CAG repeat sequence in the HD gene. Although the age at onset is correlated to the CAG repeat length, this correlation only explains approximately half of the variation in onset age. Less variation between siblings indicates that the variation is, in part, explained by genetic modifiers. We analyzed polymorphic loci within or close to the HD gene on the HD chromosome in Danish HD patients. We found one specific haplotype segregating with later age at onset, compared with patients with similar CAG repeat length and another haplotype. The nine Danish families in the study carrying this haplotype most likely have a common founder. Several of the polymorphic loci displayed alleles that may be specific to the late-onset haplotype, implicating that from this study we cannot determine which of the loci tested (or other polymorphic loci in this chromosomal area) do in fact contain genetic modifiers of age at onset.

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Section: Resultsmentioning

confidence: 99%

4p16.3 haplotype modifying age at onset of Huntington disease

et al. 2009

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“…Another explanation for the difference in prevalence of HD between Asian and non‐Asian populations may be related to the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene. In Caucasian populations, expanded CAG repeat alleles are strongly associated with CCG 7 alleles 30, 33. CCG 7 alleles are present in 67.8% of wild‐type (WT) HTT genes and 94.4% of mutant‐type (MT) HTT genes 30.…”

Section: Discussionmentioning

confidence: 99%

The incidence and prevalence of Huntington's disease: A systematic review and meta‐analysis

et al. 2012

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Huntington's disease (HD) is a rare, neurodegenerative disorder characterized by chorea, behavioral manifestations, and dementia. The aim of this study was to estimate the incidence and prevalence of HD through a systematic review of the literature. Medline and Embase databases were searched using terms specific to HD as well as studies of incidence, prevalence, and epidemiology. All studies reporting the incidence and/or prevalence of HD were included. Twenty original research articles were included. Eight studies examined incidence, and 17 studies examined prevalence. Meta‐analysis of data from four incidence studies revealed an incidence of 0.38 per 100,000 per year (95% confidence interval [CI]: 0.16, 0.94). Lower incidence was reported in the Asian studies (n = 2), compared to the studies performed in Europe, North America, and Australia (n = 6). The worldwide service‐based prevalence of HD, based on a meta‐analysis (n = 13 studies), was 2.71 per 100,000 (95% CI: 1.55–4.72). Eleven studies were conducted in Europe, North American, and Australia, with an overall prevalence of 5.70 per 100,000 (95% CI: 4.42–7.35). Three studies were conducted in Asia, with an overall prevalence of 0.40 per 100,000 (95% CI: 0.26–0.61). Metaregression revealed a significantly lower prevalence of HD in Asia, compared to European, North American, and Australian populations. HD is a devastating neurodegenerative disorder with a higher prevalence in Europe, North America, and Australia than in Asia. The difference in prevalence of this genetic disorder can be largely explained by huntingtin gene haplotypes. © 2012 Movement Disorder Society

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“…Recent data suggests that the prevalence of HD may be over 10 per 100,000 in the UK [ 14 ]. These racial differences in prevalence are accounted for by the differences in CAG tract size, HTT haplotype and CCG polymorphism [ 15 – 17 ]. The mean CAG repeat length of the normal allele was reported to be significantly longer in the European (18.4 ± 3.7) population compared with the Chinese, Japanese, and Thai (16.4 ± 1.5, 16.6 ± 1.5, and 16.5 ± 1.9, respectively) population [ 16 , 18 ].…”

Section: Discussionmentioning

confidence: 99%

“…HTT haplogroups are known to show a regional difference, and the higher risk haplotype was infrequent in China, Japan, and Thailand [ 18 , 21 , 22 ]. The CCG polymorphic region is located adjacent to the CAG triplet repeat of the HD gene, and there is a linkage disequilibrium between CCG polymorphism and the pathological CAG expansion according to the race [ 17 , 23 ]. HTT haplogroup and CCG polymorphism have not yet been studied in Korean HD patients.…”

Section: Discussionmentioning

confidence: 99%

Current Status of Huntington’s Disease in Korea: A Nationwide Survey and National Registry Analysis

Kim

Lyoo

Lee

et al. 2015

JMD

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ObjectiveHuntington’s disease (HD) is a rare neurological disorder, and its current status in Korea is not well investigated. This study aims to determine the prevalence and incidence of HD and to investigate the clinical features of HD patients in Korea.MethodsWe estimated the crude prevalence and annual incidence of HD based on the databases of the Rare Diseases Registry (RDR) and the National Health Insurance (NHI). The clinical data of genetically confirmed HD patients was collected from 10 referral hospitals and analyzed.ResultsThe mean calculated annual incidence was 0.06 cases per 100,000 persons, and the mean calculated prevalence was 0.38 based on the NHI database. The estimated crude prevalence based on the RDR was 0.41. Of the sixty-eight HD patients recruited, the mean age of onset was 44.16 ± 14.08 years and chorea was most frequently reported as the initial symptom and chief complaint. The mean CAG repeat number of the expanded allele was 44.7 ± 4.8 and correlated inversely with the age of onset (p < 0.001). About two-thirds of the patients have a positive family history, and HD patients without positive family history showed a delay in onset of initial symptoms, a prolonged interval between initial symptom onset and genetic diagnosis and a delay in the age of genetic diagnosis.ConclusionsTo the best of our knowledge, this is the first study to estimate the prevalence and incidence of HD in Korea and the largest HD series in the Asian population. Our analyses might be useful for further studies and large-scale investigations in HD patients.

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Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.

Cited by 27 publications

References 4 publications

4p16.3 haplotype modifying age at onset of Huntington disease

4p16.3 haplotype modifying age at onset of Huntington disease

The incidence and prevalence of Huntington's disease: A systematic review and meta‐analysis

Current Status of Huntington’s Disease in Korea: A Nationwide Survey and National Registry Analysis

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