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Table 3 Distribution of insertion/deletion variants identified in the NCX1 intron 2 hypervariable region

From: Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits

 

HYPEST

 

CADCZ

  
 

Cases

Controls

Cases

Controls

All

Number of studied individuals

470

652

257

413

1792

Detected genotypes 1 (n, %):

     

WT homozygote

379 (80.6%)

513 (78.7%)

192 (74.7%)

356 (86.2%)

1440

14 bp indel heterozygote

68 (14.5%)

117 (18.9%)

55 (21.4%)

53 (12.8%)

293

14 bp indel/C = >G compound heterozygote

8 (1.7%)

8 (1.2%)

5 (1.9%)

3 (0.7%)

24

14 bp indel homozygote

3 (0.6%)

1

2 (0.8%)

1

7

43 bp del heterozygote

10 (2.1%)

10 (1.5%)

1

0

21

40 bp duplication

1

0

0

0

1

14 bp indel/43 bp del compound heterozygote

0

1

0

0

1

5 bp del heterozygote

1

2 (0.3%)

1

0

4

10 bp del heterozygote

0

0

1

0

1

  1. 1Exact sequences of detected alleles are given in Figure 2.
  2. n = number of carriers of the genotype; indel - insertion/deletion; del - deletion