Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Clinical Epigenetics

Table 2 Table showing one carbon pathway enzyme allele frequencies in 55 BWS and 100 control specimens and their significance values

Gene	SNV	BWS MAF 110 alleles	Local control MAF 200 alleles	p value BWS versus local controls	Global control MAF
MTHFR	Rs1801133: C>T	0.391	0.260	0.0167	0.24
	Rs1801131: A>C	0.309	0.400	0.0516	0.2494
	Rs2274976: G>A	0.045	0.060	0.6606	0.075
MTRR	Rs1801394: A>G	0.560	0.490	0.214	0.46*
	Rs2287780: C>T	0.0833	0.035	0.068	0.076
	Rs10380: C>T	0.1204	0.090	0.397	0.174
MAT1A	Rs114494303: G>A	0.01	0.00	NS	0.0002
	Rs72558181: G>A	0.01	0.00	NS	0.000009
	Rs112848063: A>G	0.00	0.00	NS	NA
	Rs116659053: G>A	0.00	0.00	NS	0.0002
MTR	Rs1805087: A>G	0.2091	0.220	0.981	0.218
CBS	Rs17849313: G>C	0.000	0.00	NS	NA
	Rs117687681: C>T	0.010	0.00	NS	NA
	Rs11700812: G>A/C	0.000	0.00	NS	NA

Global allele frequencies were derived from dbSNP147. p values were derived from chi-squared analysis with one degree of freedom
p values of significance (< 0.05) are in italics
MAF minor allele frequency, NS not significant, NA data not available
*The minor allele frequency was calculated from the mean MAF in EXAc (0.452) and Clinvar (0.47)

ISSN: 1868-7083