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

Published in final edited form as: J Pediatr. 2013 Jul 26;163(5):10.1016/j.jpeds.2013.06.025. doi: 10.1016/j.jpeds.2013.06.025

Table 1.

Validation of predefined risk genotype comparisons in cases vs controls

Gene	Variant^a	Genotype comparison	SNP	Proxy (D’ value with original SNP)^b	Odds Ratio (95% CI)	P value
COL4A1	p.Gly1580Arg⁸	CG vs GG	rs113994114	rs3825481 (na^c)	0.89 (0.52-1.49)	0.712
F2	c.97G>A^7,13	AG vs GG	rs1799963	rs5898 (1.000)	1.40 (0.88-2.22)	0.139
F5	c.1601G>A^6,7,13	AG vs GG	rs6025	rs6015 (1.000)	1.07 (0.66-1.72)	0.817
IL1B	c.-87-511T>C^6,14	T vs C	rs16944	-	1.02 (0.79-1.30)	0.902
IL1B	c.-87-31C>T¹⁴	C vs T	rs1143627	-	1.03 (0.80-1.31)	0.853
IL6	c.-116-121C>G¹⁵	CC vs CG or GG	rs1800795	rs1800797 (1.000)	1.08 (0.76-1.56)	0.662
MTHFR	c.677C>T⁷	TT or CT vs CC	rs1801133	-	0.95 (0.67-1.34)	0.799
MTHFR	c.1298A>C⁷	CC or CA vs AA	rs1801131	-	1.56 (1.10-2.20)	0.009
TNF	c.-169-319G>A,¹⁶	AA or AG vs GG	rs1800629	-	0.90 (0.62-1.31)	0.587

c – cDNA; p - protein

D’ = D/D_max where D = the deviation of the observed frequency from the expected; and D_max = the theoretical maximum for the observed allele frequencies

Allele frequency 0 for the original SNP from1000 genomes database

COL4A1 – collagen 4A1; F2 – prothrombin; F5 – factor V Leiden; IL – interleukin; MTHFR - Methylenetetrahydrofolate reductate; TNF – tumor necrosis factor α.