Borgeat Kieran, Casamian-Sorrosal Domingo, Helps Chris, Luis Fuentes Virginia, Connolly David J
Clinical Science and Services, Royal Veterinary College, Hawkshead Lane, North Mymms, Hertfordshire, AL9 7TA, United Kingdom.
Langford Veterinary Services, University of Bristol, Langford House, Lower Langford, Bristol, BS40 5DU, United Kingdom.
J Vet Cardiol. 2014 Jun;16(2):73-80. doi: 10.1016/j.jvc.2014.03.005. Epub 2014 May 19.
A mutation identified in the myosin binding protein C3 gene (MYBPC3 R820W) has been associated with hypertrophic cardiomyopathy (HCM) in Ragdoll cats. Ragdolls with HCM are reported to have a poor prognosis and homozygous cats seem particularly likely to develop severe HCM, although the outcome in Ragdolls tested for the MYBPC3 mutation has not been reported. We aimed to determine the influence of genotype on survival in Ragdoll cats using a questionnaire, and hypothesized that homozygous Ragdolls had shorter lifespans and were more likely to suffer cardiac death than heterozygous or wild-type (WT) cats.
251 client owned Ragdoll cats.
A questionnaire for breeders/owners of MYBPC3 genotyped Ragdolls included items related to genotype, age, sex, current status (alive/dead), and date and circumstances of death. Death was categorized as cardiac or non-cardiac. Survival was analyzed using Kaplan-Meier curves and log rank tests.
Completed questionnaires were received for 236 cats (156 WT, 68 heterozygous, 12 homozygous). Median survival time for homozygous cats was 5.65 years (95%CI 0.4-10.9 years) compared to heterozygous (>16.7 years) or WT (>15.2 years). Homozygous cats were more likely to die from cardiac death (p = 0.004 vs. WT; p = 0.003 vs. heterozygous) and had significantly shorter time to cardiac death (vs. WT p < 0.001; vs. heterozygous p < 0.001).
Ragdoll cats homozygous for the MYBPC3 R820W mutation have a shorter survival time than WT or heterozygous cats. This suggests a mode of inheritance that follows an incomplete dominance pattern.
在布偶猫中，肌球蛋白结合蛋白C3基因（MYBPC3 R820W）的一种突变已被证实与肥厚型心肌病（HCM）相关。据报道，患有HCM的布偶猫预后不良，纯合子猫似乎特别容易发展为严重的HCM，尽管尚未有关于检测MYBPC3突变的布偶猫的预后情况的报道。我们旨在通过问卷调查确定基因型对布偶猫生存的影响，并假设纯合子布偶猫的寿命比杂合子或野生型（WT）猫短，且更易死于心脏疾病。
251只客户拥有的布偶猫。
针对MYBPC3基因分型的布偶猫的饲养者/主人的调查问卷，包括与基因型、年龄、性别、当前状态（存活/死亡）以及死亡日期和情况相关的项目。死亡被分类为心脏性或非心脏性。使用Kaplan-Meier曲线和对数秩检验分析生存率。
共收到236只猫（156只WT、68只杂合子、12只纯合子）的完整调查问卷。纯合子猫的中位生存时间为5.65年（95%可信区间0.4 - 10.9年），相比之下，杂合子猫（>16.7年）和WT猫（>15.2年）的生存时间更长。纯合子猫更易死于心脏疾病（与WT猫相比，p = 0.004；与杂合子猫相比，p = 0.003），且心脏疾病死亡时间显著更短（与WT猫相比，p < 0.001；与杂合子猫相比，p < 0.001）。
MYBPC3 R820W突变的纯合子布偶猫的生存时间比WT或杂合子猫短。这表明其遗传模式遵循不完全显性模式。
