Epigenome-wide base-resolution profiling of DNA methylation in chorionic villi of fetuses with Down syndrome by methyl-capture sequencing

Table 5 Disease association of identified DMR genes

Disease	GeneSymbol	rawP	adjP
Hepatopulmonary syndrome	KCNA5, DUOX2, ECE1, THBD	8.40e-05	0.0039
Hearing loss, conductive	TECTA, SIX1, MYO15A, TBX1	8.01e-05	0.0039
Holoprosencephaly	SIX6, GDF1, MNX1	0.0002	0.0062
Craniofacial abnormalities	WNT3A, TBX1, GDF1, SOX9, AXIN2	0.0011	0.0187
Down syndrome	RAB9BP1, SUMO3, ANKRD20A11P, HLA-DOA, EFEMP2	0.0011	0.0187
Heart diseases	KCNA5, F7, TBX1, GDF1, THBD	0.0033	0.0224
Chromosome aberrations	TLX1, CBFA2T3, TBX1, MNX1, SOX9	0.0035	0.0224
Testicular diseases	ALPPL2, YJEFN3, SOX9	0.0027	0.0224
Congenital abnormalities	SIX1, SIX6, TBX1, GDF1, MNX1, SOX9, AXIN2	0.0019	0.0224
Hearing loss, non-syndromic	TECTA, SIX1, MYO15A	0.0029	0.0224
Glaucoma	SIX1, SIX6, BEST1	0.0021	0.0224
Musculoskeletal abnormalities	TBX1, GDF1, MNX1, SOX9, AXIN2	0.0020	0.0224
Translocation, genetic	TLX1, SLC8A3, CBFA2T3, MNX1, SOX9	0.0065	0.0290

BP biological process, MF molecular function, rawP p value from hypergeometric test, adjP p value adjusted by the multiple test adjustment

ISSN: 1868-7083