Table 2 Genotype distributions of the human KCNIP1 gene insertion/deletion polymorphism in the study populations.

From: Genome-wide screening identifies a KCNIP1 copy number variant as a genetic predictor for atrial fibrillation

Genotype

AF (N=105)

NSR (N=422)

P-value*

Genotype distribution in the stage II population

   

D/D †

41

261

0.289/0.527

D/I, I/I †

64

161

2.47 × 10−6

Genotype

AF (N=1,022)

NSR (N=2,025)

P-value*

Genotype distribution in the stage III population

   

D/D

426

1,217

0.514/0.867

D/I, I/I

596

808

5.38 × 10−23

Genotype

AF (N=275)

NSR (N=546)

P-value*

Genotype distribution in subjects from different geographic areas

   

D/D

104

322

0.357/0.234

D/I, I/I

171

224

1.23 × 10−9

  1. AF, atrial fibrillation; D, deletion allele (∼4,470 bp) in the first intron of the human KCNIP1 gene; I, insertion allele; NSR, normal sinus rhythm; SNP, single-nucleotide polymorphism.
  2. The insertion (or gain) and deletion denote presence (insertion) and absence (deletion) of the same ∼4 kb chromosomal segment in the intron 1 of the KCNIP1 gene, respectively. This is a diallelic variant (same as an SNP). In the Taiwanese population, the deletion allele frequency is more than 0.5, and therefore the variant allele or minor allele is the insertion allele (gain in Table 1).
  3. *P values for Hardy–Weinberg equilibrium in AF (left-sided value in the top row) and NSR (right-sided value in the top row) populations, and comparison of genotype distribution between AF and NSR populations (bottom row).
  4. †D/D, homozygous deletion or copy number=0; D/I, heterozygous deletion or insertion or copy number=1; I/I, homozygous insertion or copy number=2.
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