2016
DOI: 10.1038/ejhg.2016.169
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The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America

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Cited by 17 publications
(22 citation statements)
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“…We showed that the proportion of IAs on the A1 haplotype was associated with IA frequency and the HD new mutation rate, suggesting that a higher frequency of the A1 haplotype in the general population may result in a higher prevalence of the disease. The A1 haplotype is found in South Asian individuals (Kay et al, ) and a distinct A1 variant haplotype is found at high frequency in admixed Latin American populations (Kay, Tirado‐Hurtado, et al, ), suggesting that de novo HD mutations may occur in these populations at a similar rate to populations of European ancestry.…”
Section: Discussionmentioning
confidence: 99%
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“…We showed that the proportion of IAs on the A1 haplotype was associated with IA frequency and the HD new mutation rate, suggesting that a higher frequency of the A1 haplotype in the general population may result in a higher prevalence of the disease. The A1 haplotype is found in South Asian individuals (Kay et al, ) and a distinct A1 variant haplotype is found at high frequency in admixed Latin American populations (Kay, Tirado‐Hurtado, et al, ), suggesting that de novo HD mutations may occur in these populations at a similar rate to populations of European ancestry.…”
Section: Discussionmentioning
confidence: 99%
“…It is therefore important to consider not only the rate of expansion into the HD range (≥36 CAG) but also the penetrance of the resulting allele in individuals inheriting a de novo HD genotype. We recently revealed a high frequency of reduced penetrance alleles in the European‐ancestry general population, suggesting that the population prevalence of individuals with a de novo expansion into the reduced penetrance range (36–39 CAG) could exceed the number of individuals who go on to clinically manifest HD (Kay, Tirado‐Hurtado, et al, ). Since individuals with reduced penetrance HD alleles often do not manifest HD but are at high risk of further repeat expansion in offspring, the number of individuals who present with HD symptoms without a family history may not correspond to the inferred genetic new mutation rate presented in our study.…”
Section: Discussionmentioning
confidence: 99%
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“…The vast majority of HD mutation carriers are heterozygous, with one normal and one muHTT gene (1). Population genetics studies have identified single-nucleotide polymorphisms (SNPs) tightly linked to the CAG expansion and predicted that targeting as few as three to five of these "HD-SNPs" would provide an allele-specific muHTT gene silencing therapy for 80 to 90% of HD patients worldwide (20)(21)(22)(23)(24)(25). We have previously developed ASOs targeting SNPs common to A and B haplogroup HTT, collectively, most commonly found on CAG-expanded chromosomes in Caucasian/European (20,22), Latin American (24), and Black South African (25) populations, and absent on C haplogroup HTT, most commonly found on control chromosomes in these populations (20,23).…”
Section: Introductionmentioning
confidence: 99%
“…Further reports during the late 80s and early 90s highlighted a surprisingly high frequency of cases coming from the Cañete Valley—southern Lima, 200 km south to the Capital city (Cuba, ; Cuba, Castro, & Benzaquen, ; Cuba & Torres, ). The large cohort of CHOR‐HTT families in Peru have been made significant scientific contributions in the field including genotype‐phenotype correlations of late‐onset cases (Cornejo‐Olivas, Inca‐Martinez, et al, ) and Huntington‐like disorders (Walker et al, ), haplotypes analysis suggesting an Amerindian origin of the HTT mutation (Kay et al, ) and health‐cost analysis highlighting the dramatic burden of CHOR‐HTT in the Peruvian population. Since 2012, an outreach clinic, combining both home visits and consultations at primary care center, is offering multidisciplinary care to CHOR‐HTT patients and families from the Cañete valley (Vishnevetsky et al, ).…”
Section: Healthcare Services Of Genetics and Genomicsmentioning
confidence: 99%