Subjects:
Free Research Articles
Topics:
cerebrovascular accident, chromosome mapping, ischemic stroke, mutation, pediatrics, sickle cell anemia, whole exome sequencing

In the article beginning on page 3237 in the 18 April 2013 issue, there is an error in the assignment of an amino acid to a polymorphism.

In Table 5 (page 3242), the column headings in the three rightmost columns should be QQ, QK, and KK, not KK, KQ, and QQ, respectively, from left to right. In the second footnote, “wild type (KK), heterozygous (KQ), and/or homozygous (QQ)” should read, “wild type (QQ), heterozygous (QK), and/or homozygous (KK).” The corrected table is shown below.

Table 5

Genotype frequencies of 2 variants associated with risk for stroke in patients with SCA

*GOLGB1 Y1212C mutation (rs3732410)†ENPP1 K173Q mutation (rs1044498)
YYYCCCQQQKKK
Discovery (pooled WES cohorts)       
 Control (n = 104)  76.0% 24.0% 0.0% 54.4% 39.8% 5.8% 
 Stroke (n = 120) 95.0% 5.0% 0.0% 75.8% 21.7% 2.5% 
 P value <.0001   <.0011   
 Odds ratio .17 95% CI 0.06-0.42 0.44 95% CI 0.27-0.72 
Validation (independent cohorts)      
 Control (n = 231) 81.8% 17.8% 0.4% 55.5% 37.6% 6.9% 
 Stroke (n = 57) 93.0% 7.0% 0.0% 67.9% 30.3% 1.8% 
 P value .035   .031   
 Odds ratio 0.37 95% CI 0.12-0.99 0.59 95% CI 0.34-0.99 
*GOLGB1 Y1212C mutation (rs3732410)†ENPP1 K173Q mutation (rs1044498)
YYYCCCQQQKKK
Discovery (pooled WES cohorts)       
 Control (n = 104)  76.0% 24.0% 0.0% 54.4% 39.8% 5.8% 
 Stroke (n = 120) 95.0% 5.0% 0.0% 75.8% 21.7% 2.5% 
 P value <.0001   <.0011   
 Odds ratio .17 95% CI 0.06-0.42 0.44 95% CI 0.27-0.72 
Validation (independent cohorts)      
 Control (n = 231) 81.8% 17.8% 0.4% 55.5% 37.6% 6.9% 
 Stroke (n = 57) 93.0% 7.0% 0.0% 67.9% 30.3% 1.8% 
 P value .035   .031   
 Odds ratio 0.37 95% CI 0.12-0.99 0.59 95% CI 0.34-0.99 
*

The frequency is given for individuals who are wild type (YY), heterozygous (YC), or homozygous (CC) for the GOLGB1 Y1212C mutation in the discovery cohorts and in the validation cohorts.

†

The frequency is given for individuals who are wild type (QQ), heterozygous (QK), and/or homozygous (KK) for the ENPP1 K173Q mutation in the same discovery and validation cohorts. The allele frequency of each mutation was used to perform statistical testing as described in “Methods.”

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On page 3243, in the first paragraph in the right column, the passage that begins with “The ENPP1 K173Q mutation” should read, “The ENPP1 K173Q mutation identified in this study has previously been shown to affect intracellular ENPP1 activity and serum ENPP1 enzyme levels.40,41 In both our discovery and validation studies, we found that the ENPP1 K variant was associated with a significantly decreased stroke risk, which suggests that decreased ENPP1 activity may protect against stroke via PPi levels.”

The errors have been corrected in the online version, which now differs from the print version.

© 2016 by The American Society of Hematology
2016
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