. Author manuscript; available in PMC: 2014 Aug 1.

Published in final edited form as: Circ Cardiovasc Genet. 2013 Jul 15;6(4):10.1161/CIRCGENETICS.113.000023. doi: 10.1161/CIRCGENETICS.113.000023

Table 3.

Association between SNP and clinical status in LQTS mutation carriers

Gene	SNP	Population	Genotypic status*	Asymptomatic	Symptomatic	p-value^\|\|	OR [95% CI]
KCNQ1	rs2074238	Discovery^†	CC	98 (87.5%)	106 (94.6%)	1.98 10⁻³	0.38 [0.19–0.73]
		Discovery^†	CT	14 (12.5%)	6 (5.4%)	1.98 10⁻³	0.38 [0.19–0.73]
		South African	CC	36 (87.8%)	108 (97.3%)	3.13 10⁻⁵	0.20 [0.09–0.44]
		South African	CT	5 (12.2%)	3 (2.7%)	3.13 10⁻⁵	0.20 [0.09–0.44]
		Finnish	CC	109 (90.1%)	58 (92.1%)	0.33	0.78 [0.26–2.34]
		Finnish	CT	12 (9.9%)	5 (7.9%)	0.33	0.78 [0.26–2.34]
		Meta-analysis (replication^‡)^§	-	-	-	0.07	0.37 [0.10–1.42]
		Meta-analysis (Discovery and replication^‡)	-	-	-	1.68 10⁻³	0.36 [0.18 – 0.71]

‘CC’ represents the major homozygous genotype and ‘CT’ represents the heterozygous genotype

^†

Pooled population (Caucasian and Japanese)

^‡

South African and Finnish

^§

heterogeneity I²=0.75, p=0.05

^||

not corrected for multiple tests