The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy

被引:36
作者
Laberge, L.
Veillette, S.
Mathieu, J.
Auclair, J.
Perron, M.
机构
[1] Cegep Jonquiere, Grp ECOBES, Saguenay, PQ G7X 3W1, Canada
[2] Univ Quebec, Dept Sci Educ & Psychol, Chicoutimi, PQ, Canada
[3] Univ Montreal, Ctr Sante & Serv Sociaux, Unite Rech Clin, Chicoutimi, PQ, Canada
[4] Univ Montreal, Ctr Sante & Serv Sociaux, Ctr Med Gen Commun, Chicoutimi, PQ, Canada
[5] Carrefour Sante Jonquiere, Neuromuscular Clin, Quebec City, PQ, Canada
关键词
CTG repeats; genotype; phenotype; myotonic dystrophy; social support; socioeconomic deprivation;
D O I
10.1111/j.1399-0004.2007.00732.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Socioeconomic deprivation has long been recognized as a prominent feature of myotonic dystrophy type 1 (DM1), but studies performed before the discovery of the mutation causing DM1 may have suffered an ascertainment bias towards the more severe forms of the disease. We have sought to clarify the relationship between CTG repeats, muscular impairment, and socioeconomic characteristics of 200 patients with DM1. Patients with DM1 reported lower educational attainment, lower employment rate, lower family income, and higher reliance on social assistance than the reference population. Logistic regression showed, on one hand, that CTG repeats and marital status were significant predictors of social assistance recipiency and, on the other hand, that CTG repeats and gender were significant predictors of low social support from family, after adjustment for age, gender, degree of muscular impairment, CTG repeats, educational level, and marital status. For example, each additional 100 CTG repeats was found to increase the odds of relying on social assistance by about 35% and having low social support by about 22%. The chances of experiencing socioeconomic deprivation are loaded heavily against patients with DM1. The relationship between increased CTG repeat length and higher risk of material and social deprivation must be acknowledged in the clinical management of DM1.
引用
收藏
页码:59 / 66
页数:8
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