Table 4 Blood DMRs where genetic variation has previously been associated with OFCs

TBX1 ^c

Chr22:19750918-19752870 Chr22:19736256-19736672

1.61 × 10⁻¹⁰ 5.03 × 10⁻⁴

↑ in CPO vs CLO

↑ in CPO vs CLO

6

2

Variants were associated with non-syndromic CL/P in a candidate gene study of a Brazilian population [41]

COL11A2 ^c

Chr6:33132086-33132728

2.13 × 10⁻⁹

↑ in CPO vs CLO

15

Multiple haplotypes have been associated with non-syndromic CPO compared to unaffected individuals [44]

HOXA2 ^b

Chr7:27143046-27143807

Chr7:27143235-27143586

1.04 × 10⁻⁷

3.9 × 10⁻²

↑ in CPO vs CLO

↑ in CPO vs CLP

7

7

Hoxa-2 mutant mice have abnormal palatogenesis [71, 72]

CRB2 ^a

Chr9:126130901-126131310

5.14 × 10⁻⁴

↑ in CPO vs CLO

2

Several non-syndromic CL/P susceptibility genes have been identified in the 9q22.32–34.1 region that includes CRB2 [73]

PDGFRA ^c

Chr4:55090812-55091179

2.71 × 10⁻²

↑ in CPO vs CLO

2

Mutations in PDGFRA have been associated with non-syndromic CPO [74]

CRISPLD2 ^c

Chr16:84870066-84870204

3.41 × 10⁻²

↑ in CPO vs CLO

2

Variants have been associated with non-syndromic CL/P, with some evidence for rs1546124 being associated with CPO in several populations [75]

SMOC1 ^c

Chr14:70316898-70317240

1.39 × 10⁻⁵

↓ in CPO vs CLP

5

A significant proportion of Smoc1 homozygous mutant mice have cleft palate [76]

PVRL1 ^c

Chr11:119630144-119630363

1.52 × 10⁻⁵

↓ in CPO vs CLO

2

Rare and common mutations within PVRL1 were associated with non-syndromic CLP in a family-based study of multiple populations [77]

CCL2 ^a

Chr17:32582128-32582829

3.00 × 10⁻⁴

↓ in CPO vs CLO

6

Variants mapping to CCL2 were associated with non-syndromic CL/P in a candidate gene study [78]