Table 2

Characteristics of the eight BW-MVPs that were prioritized for further validation using DBS

CpG number

Region

Gene/ element

Full name

Function

cg14123607

Intron 1/insulator

APBA1

Amyloid beta A4 precursor protein-binding family A member 1

Associated with reduced production of amyloid-β peptide, which is considered a key player in Alzheimer's disease [52]

cg12170649

Intron 2/enhancer

APPL2

Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2

Involved in cell proliferation and embryonic development. Acts as negative controller of adiponectin signaling and SNPs in APPL2 have been associated with obesity [53-55]

cg26404226

Enhancer

Chr10q23.3

cg15487251^a

Promoter

IGF2BP2

Insulin-like growth factor 2 mRNA-binding protein 2

mRNA binding protein involved in RNA localization, stability and translation. Intronic SNP in IGF2BP2 has been identified as T2D risk factor by several GWAS [56]

cg10362113^a

Intron 1/weak enhancer

PAPOLA

Poly(A) polymerase alpha

Plays a predominant role in addition of the 3'-poly(A) tail to mRNA precursors, which is important for mRNA stability, transport and translation [57]

cg02409150

Intron 4

PHKG2

Phosphorylase kinase, gamma 2 (testis)

Encodes the gamma subunit of the liver-specific phosphorylase kinase, which activates the enzyme glycogen phosphorylase, resulting in glycogen breakdown [58]

cg15049370^a

Intron 2/enhancer

PPARGC1B

Peroxisome proliferator-activated receptor gamma coactivator 1-beta

Multifunctional transcriptional co-regulator involved in many metabolic processes, including mitochondrial oxidative metabolism and hepatic lipogenesis [59]

cg22768222

Intron 1/weak enhancer

RUNX2

Runt-related transcription factor 2

Transcription factor essential for osteoblast and chondrocyte differentiation [60]

^aAffected by buccal content. BW-MVP, birth weight-associated methylation variable position; DBS, deep bisulfite sequencing; GWAS, genome-wide association studies; SNP, single nucleotide polymorphism; T2D, type 2 diabetes.

Souren et al. Genome Biology 2013 14:R44   doi:10.1186/gb-2013-14-5-r44