Table 2.

Distribution of FBLN5 variants in PEX and control subjects

SNP	Major allele	Minor allele	MAF in control (n = 338)	MAF in PEX combined (n = 375)	p-value	p-value†	OR (95% CI)
rs7149187	G	A	0.39	0.31	0.005	0.019	0.72 (0.57 ± 0.91)
rs2430347	G	A	0.23	0.23	0.77	0.99	1.03 (0.8 ± 1.34)
rs929608	T	C	0.53	0.45	0.004	0.017	0.73 (0.58 ± 0.9)
SNP	Major allele	Minor allele	MAF in control (n = 338)	MAF in PEXS (n = 280)	p-value	p-value†	OR (95% CI)
rs7149187	G	A	0.39	0.32	0.02	0.06	0.74 (0.58 ± 0.95)
rs2430347	G	A	0.23	0.25	0.48	0.85	1.1 (0.83 ± 1.45)
rs929608	T	C	0.53	0.45	0.007	0.02	0.72 (0.57 ± 0.91)
SNP	Major allele	Minor allele	MAF in control (n = 338)	MAF in PEXG (n = 95)	p-value	p-value†	OR (95% CI)
rs7149187	G	A	0.39	0.29	0.02	0.07	0.66 (0.46 ± 0.94)
rs2430347	G	A	0.23	0.2	0.48	0.86	0.86 (0.58 ± 1.29)
rs929608	C	T	0.47	0.54	0.08	0.24	1.33 (0.96 ± 1.86)

Frequency of minor allele “A” at rs7149187 in control (0.39) is significantly higher in comparison to PEX (0.31, p = 0.005), PEXS (0.32, p = 0.02), and PEXG (0.29, p = 0.02) individuals. Similarly, frequency of minor allele “C” at rs929608 is also found to be significantly higher in control (0.53) than in PEX (0.45, p = 0.004) and PEXS (0.45, p = 0.007) but not in PEXG (0.46, p = 0.08) individuals. Risk analysis of minor alleles was done to calculate the odds ratio based on an Allelic model

n sample size, MAF minor allele frequency, OR odds ratio, CI confidence interval

^†p-value after permutation correction, where n  =  10,000