Polymorphism of the (CTG)n Repeat of the Myotonin Protein Kinase Gene in Populations of the Sakha Republic (Yakutia) and Central Asia

Fedorova, Sardana A.; Хусаинова, Р. И.; Kutuev, Ildus; Syromyatnikova, A. S.; Николаева, И. А.; Kulichkin, S. S.; Ахметова, В. Л.; Salimova, A. Z.; Svyatova, Gulnara; Berezina, Galina; Платонов, Федор Алексеевич; Khusnutdinova, Elza

doi:10.1007/s11008-005-0048-2

Cited by 5 publications

(2 citation statements)

References 11 publications

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“…The unadjusted estimated global prevalence of DM1 was 9.27 cases per 100,000 (95% CI: 4.73-15.21), while the region-adjusted pooled prevalence was 9.02 cases per 100,000 (95% CI: 5.60-13.17). Although ethnicity information was not explicitly mentioned in the included studies, previous studies have shown that the prevalence of DM1 is altered in different ethnicities [38][39][40]. It has been acknowledged that DM1 is more common in populations with European ancestry, while it is rare and even absent in Southern Africa [39,40], which may be partly explained by the low frequency of long CTG repeats within the normal range in the Southern African population [41].…”

Section: Discussionmentioning

confidence: 99%

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Liao

Zhang

et al. 2022

Neuroepidemiology

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Introduction: Myotonic dystrophy (DM), the most common muscular dystrophy in adults, is a group of autosomal inherited neuromuscular disorders characterized by progressive muscle weakness, myotonia, and cardiac conduction abnormalities. Due to the different gene mutations, DM has been subclassified into DM type 1 (DM1) and type 2 (DM2). However, the prevalence studies on DM and its subtypes are insufficient. Methods: The PubMed (1966–2022), MEDLINE (1950–2022), Web of Science (1864–2022), and Cochrane Library (2022) databases were searched for original research articles published in English. The quality of the included studies was assessed by a checklist adapted from Strengthening the Reporting of Observational studies in Epidemiology. To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random-effects model. Heterogeneity was assessed using the Cochrane Q statistic and the I2 statistic. Results: A total of 17 studies were included in the systematic review and meta-analysis. Of the 17 studies evaluated, 14 studies were considered medium quality, 2 studies were considered high quality, and 1 study was considered low quality. The global prevalence of DM varied widely from 0.37 to 36.29 cases per 100,000. The pooled estimate of the prevalence of DM was 9.99 cases (95% CI: 5.62–15.53) per 100,000. The pooled estimate of the prevalence of DM1 was 9.27 cases (95% CI: 4.73–15.21) per 100,000, ranging from 0.37 to 36.29 cases per 100,000. The pooled estimate of the prevalence of DM2 was 2.29 cases (95% CI: 0.17–6.53) per 100,000, ranging from 0.00 to 24.00 cases per 100,000. Conclusion: Our study provided accurate estimates of the prevalence of DM. The high heterogeneity and the lack of high-quality studies highlight the need to conduct higher quality studies on orphan diseases.

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Section: Discussionmentioning

confidence: 99%

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Liao

Zhang

et al. 2022

Neuroepidemiology

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“…Geographically, large-scale population-based studies have been reported in Asia [ 27 , 28 , 29 , 30 ], Europe [ 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 ], North America [ 41 ], and Oceania [ 42 ]. Previous studies have reported that the incidence of DM1 is different in various ethnicities [ 43 , 44 , 45 ]. DM1 is more frequent in a European population; however, it is very rare in a Southern African population [ 44 , 45 ].…”

Section: Discussionmentioning

confidence: 99%

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

Han

Jang

Park

2022

Genes

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Myotonic dystrophy type 1 (DM1) is the most common autosomal-dominant disorder caused by the CTG repeat expansion of the DMPK, and it has been categorized into three phenotypes: mild, classic, and congenital DM1. Here, we reviewed the intergenerational influence of gender and phenotype of the transmitting parent on the occurrence of Korean DM1. A total of 44 parent–child pairs matched for the gender of the transmitting parent and the affected child and 29 parent–child pairs matched for the gender and DM1 phenotype of the transmitting parent were reviewed. The CTG repeat size of the DMPK in the affected child was found to be significantly greater when transmitted by a female parent to a female child (DM1-FF) (median, 1309 repeats; range, 400–2083) than when transmitted by a male parent to a male child (650; 160–1030; p = 0.038 and 0.048 using the Tukey HSD and the Bonferroni test) or by a male parent to a female child (480; 94–1140; p = 0.003). The difference in the CTG repeat size of the DMPK between the transmitting parent and the affected child was also lower when transmitted from a male parent with classic DM1 (−235; −280 to 0) compared to when it was transmitted from a female parent with mild DM1 (866; 612–905; p = 0.015 and 0.019) or from a female parent with classic DM1 (DM1-FC) (605; 10–1393; p = 0.005). This study highlights that gender and the DM1 phenotype of the transmitting parent had an impact on the CTG repeat size of the DMPK in the affected child, with greater increases being inherited from the DM1-FF or DM1-FC situations in Korean DM1.

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Hereditary diseases among Yakuts

Puzyrev

Maximova

2008

Russ J Genet

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Polymorphism of the (CTG)n Repeat of the Myotonin Protein Kinase Gene in Populations of the Sakha Republic (Yakutia) and Central Asia

Cited by 5 publications

References 11 publications

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

Hereditary diseases among Yakuts

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