Table.
Single Nucleotide Polymorphisms Studied in Conjunction with EARR.
| Single Nucleotide Polymorphisms Studied in Conjunction with EARR | ||||||
|---|---|---|---|---|---|---|
| Chr | Gene | Marker | Type of Marker | Population tested | Results | Refs |
| 2q14 .1 |
Interleukin-1α (IL-1α; OMIM #147760) |
rs1800587 (−889 C/T) |
Promoter variation |
35 White American families from Indiana, USA Families having at least 2 siblings who had received full-banded comprehensive orthodontic treatment; 2.82 years (±1.09 stdev) average length of treatment |
No statistical association | [16] |
| 2q14.1 |
Interleukin-1α (IL-1α; OMIM #147760) |
rs1800587 (−889 C/T) |
Promoter variation |
45 sporadic EARR patients including two sibling pairs with EARR 44 controls All subjects from Aachen, Germany |
The rs1800587 2/2 [T/T] genotype was associated with EARR compared to the control group (p < 0.032) |
[68] |
| 2q14 .1 |
Interleukin-1α (IL-1α; OMIM #147760) |
rs1800587 (−889 C/T) |
Promoter variation |
54 Caucasian orthodontic patients from Seville, Spain 25 individuals with EARR > 2 mm 29 Controls |
No statistical association p= 0.09 |
[29] |
| 2q14.1 |
Interleukin-1α (IL-1α; OMIM #147760) |
rs1800587 (−889 C/T) |
Promoter variation |
73 root filled teeth (35 with EARR > 2mm and 38 non-EARR teeth) 73 vital control teeth (30 with EARR > 2 mm and 43 non-EARR teeth) All patients were from Seville, Spain and had undergone root canal treatment in a maxillary premolar but not in the contra-lateral tooth and had received comprehensive orthodontic treatment (straight-wire technique) at least 1 year later. |
No statistical association of EARR with non-vital endodontically-treated teeth |
[69] |
| 2q14.1 |
Interleukin-1α (IL-1α; OMIM #147760) |
rs1800587 (−889 C/T) |
Promoter variation |
93 orthodontic patients from Seville, Spain 39 individuals with >2 mm of EARR on root-filled teeth after orthodontic treatment 54 Controls |
No statistical association of EARR with non-vital endodontically-treated teeth |
[70] |
| 2q14 .1 |
Interleukin-1α (IL-1α; OMIM #147760) |
rs1800587 (−889 C/T) |
Promoter variation |
32 individuals with EARR of maxillary incisors (age 15.0 ± 4.1 years) 74 controls (age 15.2 ± 5.3 years) All individuals were white from Brno, Czech Republic; treated with fixed appliances |
No statistical association | [30] |
| 2q14 .1 |
Interleukin-1α (IL-1α; OMIM #147760) |
rs1800587 (−889 C/T) |
Promoter variation |
67 biologically unrelated Caucasians with moderate to severe EARR of maxillary incisors; 38 females and 29 males 67 age and sex-matched biologically unrelated Caucasian controls All subjects from Northern Indiana, USA received standard orthodontic treatment |
No statistical association | [35] |
| 2q14 .1 |
Interleukin -1β (IL-1β; OMIM #147720) |
rs1143634 (+3954/ +3953; C/T rev) *Allele 2 (T) associated with more IL-1 production (See a, b, c) |
Synonymous variant in Exon 5 TTC→TTT Phe105Phe |
35 White American families in Indiana, USA Families having at least 2 siblings who had received full-banded comprehensive orthodontic treatment 2.82 years (±1.09 stdev) average length of treatment |
rs1143634 was linked to the EARR phenotype (p= 0.0003) Allele-1/Allele-1 (C/C) homozygous individuals showed a 5.6 fold increase risk of EARR > 2mm (95% CI 1.9–21.2) compared to C/T and T/T individuals |
[16] |
| 2q14 .1 |
Interleukin -1β (IL-1β; OMIM #147720) |
rs1143634 (+3954/ +3953 C/T) *See note above |
Synonymous variant in Exon 5 TTC→TTT Phe105Phe |
61 orthodontic patients from San Paulo, Brazil 23 affected individuals 38 control individuals EARR in the central and lateral maxillary incisors in the post-treatment period |
Allele 1 (C) predisposed the subjects to EARR (OR = 4.0) |
[34] |
| 2q14 .1 |
Interleukin -1β (IL-1β; OMIM #147720) |
rs1143634 (+3954/ +3953 C/T) *See note above |
Synonymous variant in Exon 5 TTC→TTT Phe105Phe |
45 sporadic EARR patients including two sibling pairs with EARR 49 controls All subjects from Aachen, Germany |
No statistical association Allele-1 (C) occurred slightly less often in the EARR affected individuals compared to controls |
[68] |
| 2q14 .1 |
Interleukin -1β (IL-1β; OMIM #147720) |
rs1143634 (+3954/ +3953 C/T) *See note above |
Synonymous variant in Exon 5 TTC→TTT Phe105Phe |
54 Caucasian orthodontic patients from Seville, Spain 25 individuals with EARR > 2 mm 29 Controls |
Allele-1/Allele-1 (CC) homozygous individuals had an increased risk of post- orthodontic EARR (OR 3.48; p=0.027; 95%CI=1.12–10.72) |
[29] |
| 2q14 .1 |
Interleukin -1β (IL-1β; OMIM #147720) |
rs1143634 (+3954/ +3953 C/T) *See note above |
Synonymous variant in Exon 5 TTC→TTT Phe105Phe |
73 root filled teeth (35 with EARR > 2mm and 38 non-EARR teeth) 73 vital control teeth (30 with EARR > 2 mm and 43 non-EARR teeth) All patients were from Seville, Spain and had undergone root canal treatment in a maxillary premolar but not in the contra-lateral tooth and had received comprehensive orthodontic treatment (straight-wire technique) at least 1 year later. |
Homozygous subjects 2/2 [TT] had 2X the risk of post- orthodontic EARR in non-vital, endodontically-treated teeth [OR, 2.032 (p= 0.031); 95%CI=1.99–14.77] when compared to control teeth with vital pulp. There was an increased predisposition of EARR for control teeth with vital pulp and control root-filled teeth when the subject is homozygous for Allele-1 (C) [OR, 5.05 (p= 0.002)] and [OR, 2.77 (p= 0.037)], respectively. |
[69] |
| 2q14 .1 |
Interleukin -1β (IL-1β; OMIM #147720) |
rs1143634 (+3954/ +3953 C/T) *See note above |
Synonymous variant in Exon 5 TTC→TTT Phe105Phe |
93 orthodontic patients from Seville, Spain 39 individuals with >2 mm of EARR on root-filled teeth after orthodontic treatment 54 Controls |
Homozygous subjects (2/2[TT]) and (1/1[CC]), had an increased risk of post- orthodontic EARR in non-vital, endondontically-treated teeth (odds ratio = 11.59; p=0.006; 95%CI= 1.36–98.64) and (odds ratio = 2.54; p=0.035; 95%CI=1.05–6.12), respectively |
[70] |
| 2q14 .1 |
Interleukin -1β (IL-1β; OMIM #147720) |
rs1143634 (+3954/ +3953 C/T) *See note above |
Synonymous variant in Exon 5 TTC→TTT Phe105Phe |
32 individuals with EARR of maxillary incisors (age 15.0 ± 4.1 years) 74 controls (age 15.2 ± 5.3 years) All individuals were white from Brno, Czech Republic; treated with fixed appliances |
No statistical association | [30] |
| 2q14 .1 |
Interleukin -1β (IL-1β; OMIM #147720) |
rs1143634 (+3954/ +3953 C/T) *See note above |
Synonymous variant in Exon 5 TTC→TTT Phe105Phe |
195 total patients from Coimbra, Portugal (72 males and 123 female patients) 17.24 + 6.8 years old (average age + stdev); Average treatment time was 36 ± 10 months Portuguese Caucasian origin with completed comprehensive orthodontic treatment (straight-wire technique); Six teeth were assessed: the four maxillary incisors and the two maxillary canines |
No statistical association | [36] [51] |
| 2q14 .1 |
Interleukin -1β (IL-1β; OMIM #147720) |
rs1143634 (+3954/ +3953 C/T) *See note above |
Synonymous variant in Exon 5 TTC→TTT Phe105Phe |
67 biologically unrelated Caucasians with moderate to severe EARR of maxillary incisors; 38 females and 29 males 67 age and sex-matched biologically unrelated Caucasian controls All subjects from Northern Indiana, USA received standard orthodontic treatment |
No statistical association | [35] |
| 2q14.1–2 |
Interleukin-1 Receptor Antagonist (IL-1RN; OMIM #147679) Aliases: IL-1ra, IL-1RA |
rs315952 (+390 T/C) |
Synonymous variant in Exon 4 AGT→AGC Ser130Ser |
195 total patients from Coimbra, Portugal (72 males and 123 female patients) 17.24 + 6.8 years old (average age + stdev); Average treatment time was 36 ± 10 months Portuguese Caucasian origin with completed comprehensive orthodontic treatment (straight-wire technique); Six teeth were assessed: the four maxillary incisors and the two maxillary canines |
No statistical association | [51] |
| 2q14.1–2 |
Interleukin-1 Receptor Antagonist (IL-1RN; OMIM #147679) Aliases: IL-1ra, IL-1RA |
rs419598 (C/T fwd) |
Synonymous variant GCT→GCC Ala→Ala |
54 Caucasian orthodontic patients from Seville, Spain 25 individuals with EARR > 2 mm 29 Controls |
Homozygous [1/1(TT)] more likely to be affected with EARR (OR: 6.75; p= 0.001; 95%CI=2.04–22.27). |
[29] |
| 2q14.1–2 |
Interleukin-1 Receptor Antagonist (IL-1RN; OMIM #147679) Aliases: IL-1ra, IL-1RA |
rs419598 (C/T fwd) |
Synonymous variant GCT→GCC Ala→Ala |
93 orthodontic patients from Seville, Spain 39 individuals with >2mm EARR following orthodontic treatment on root-filled teeth 54 individuals with no EARR or EARR ≤ 2mm following orthodontic treatment on root-filled teeth |
Subjects homozygous [1/1(TT)] for rs419598 were at increased risk of EARR in root-filled teeth (OR:10.85; p=0.001;CI:95%=3.97 – 29.6) |
[71] |
| 2q14.1–2 |
Interleukin-1 Receptor Antagonist (IL-1RN; OMIM #147679) Aliases: IL-1ra, IL-1RA |
rs419598 (C/T fwd) |
Synonymous variant GCT→GCC Ala→Ala |
Case-Control Study; 67 biologically unrelated Caucasians with moderate to severe EARR of maxillary incisors; 38 females and 29 males 67 age and sex-matched biologically unrelated Caucasian controls All subjects from Northern Indiana, USA received standard orthodontic treatment |
No statistical association | [35] |
| 2q14.1–2 |
Interleukin-1 Receptor Antagonist (IL-1RN; OMIM #147679) Aliases: IL-1ra, IL-1RA |
86-bp Variable Number Tandem Repeat (VNTR) in 2nd intron |
Short allele 2 repeats (240bp) Long alleles 3 (326 bp), 4 (412bp), 5 (498bp), and 6 (584bp) repeats |
32 individuals with EARR of maxillary incisors (age 15.0 ± 4.1 years) 74 controls (age 15.2 ± 5.3 years) All individuals were white from Brno, Czech Republic; treated with fixed appliances |
IL1RN*12, *22 genotypes and the short (*2) allele were significantly associated with EARR in the subgroup of girls (p= 0.04 and p= 0.02, p= 0.02, respectively) |
[30] |
| 2q14.1–2 |
Interleukin-1 Receptor Antagonist (IL-1RN; OMIM #147679) Aliases: IL-1ra, IL-1RA |
rs419598 (C/T fwd) |
Synonymous variant GCT→GCC Ala→Ala |
174 orthodontic patients within a Chinese Han population Left maxillary central incisors monitored for EARR in 3D during straight wire orthodontic treatment; Age range 12–34 years; average 20.55 ± 6.54 months in treatment |
No statistical association | [46] |
| Xq28 |
Interleukin-1 receptor- activated protein kinase (IRAK1; OMIM #300283) |
rs1059703 (+6434; C/T rev) |
Non- synonymous Variant in Exon 12 TCG→TTG Ser532Leu |
195 total patients from Coimbra, Portugal (72 males and 123 female patients) 17.24 + 6.8 years old (average age + stdev); Average treatment time was 36 ± 10 months Portuguese Caucasian origin with completed comprehensive orthodontic treatment (straight-wire technique); Six teeth were assessed: the four maxillary incisors and the two maxillary canines |
Homozygosity and hemizygosity for the C-allele was protective for EARR (p = 0.018) |
[51] |
| 7p15.3 |
Interleukin-6 (IL-6; OMIM #147620) |
rs1800796 (−634 C/G) |
Promoter variation |
174 orthodontic patients within a Chinese Han population Left maxillary central incisors monitored for EARR in 3D during straight wire orthodontic treatment; Age range 12–34 years; average 20.55 ± 6.54 months in treatment |
GC individuals had an increased risk of EARR |
[46] |
| 6p12.2 |
Interleukin-17A (IL-17A; OMIM # 603149) |
rs2275913 (−197 G/A) |
Promoter variation |
Case-control retrospective study 99 Caucasian children of Czech origin 15.0 ± 4.7 (mean age ± standard deviation) 30 individuals with EARR of maxillary incisors(11 boys: 19 girls) 69 unrelated controls (26 boys: 43 girls) |
No statistical association | [72] |
| 11q22.3 |
Caspase-1 (CASP1; OMIM #147678); Alias Interleukin-1 Beta Converting Enzyme (ICE) |
rs530537 (A/G rev) |
Intronic variant |
Case-Control Study; 67 biologically unrelated Caucasians with moderate to severe EARR of maxillary incisors; 38 females and 29 males 67 age and sex-matched biologically unrelated Caucasian controls All subjects from Northern Indiana, USA received standard orthodontic treatment |
No statistical association | [35] |
| 11q22.3 |
Caspase-1 (CASP1; OMIM #147678); Alias Interleukin-1 Beta Converting Enzyme (ICE) |
rs580253 (C/T rev) |
Synonymous variant CTA→TTA Leu→Leu |
67 biologically unrelated Caucasians with moderate to severe EARR of maxillary incisors; 38 females and 29 males 67 age and sex-matched biologically unrelated Caucasian controls All subjects from Northern Indiana, USA received standard orthodontic treatment |
No statistical association | [35] |
| 11q22.3 |
Caspase-1 (CASP1; OMIM #147678); Alias Interleukin-1 Beta Converting Enzyme (ICE) |
rs554344 (C/G fwd) |
Near 3’ end of the gene |
67 biologically unrelated Caucasians with moderate to severe EARR of maxillary incisors; 38 females and 29 males 67 age and sex-matched biologically unrelated Caucasian controls All subjects from Northern Indiana, USA received standard orthodontic treatment |
No statistical association | [35] |
| 12q24.31 |
Purinergic- receptor-P2X, ligand-gated ion channel 7 (P2RX7; OMIM #602566) |
rs208294 (+489 C/T) |
Non- Synonymous Variant CAT→TAT His155Tyr Gain-of-function |
67 biologically unrelated Caucasians with moderate to severe EARR of the maxillary incisors; 38 females and 29 males 67 age and sex-matched biologically unrelated Caucasian controls All subjects from Northern Indiana, USA received standard orthodontic treatment |
Individuals with CC&CT were at higher risk for EARR than individuals with TT (p=0.002) |
[35] |
| 12q24.31 |
Purinergic- receptor-P2X, ligand-gated ion channel 7 (P2RX7; OMIM #602566) |
rs208294 (+489 C/T) |
Non- Synonymous Variant CAT→TAT His155Tyr Gain-of-function |
Case-control retrospective study 99 Caucasian children of Czech origin 15.0 ± 4.7 (mean age ± standard deviation) 30 individuals with EARR of maxillary incisors(11 boys: 19 girls) 69 unrelated controls (26 boys: 43 girls) |
No association with individual SNP Association seen with rs208294 + rs1718119 haplotype and EARR |
[72] |
| 12q24.31 |
Purinergic- receptor-P2X, ligand-gated ion channel 7 (P2RX7; OMIM #602566) |
rs1718119 (+1068 G/A fwd) |
Non- Synonymous Variant in Exon 11 GCT→ACT Ala348Thr Gain-of-function |
195 total patients from Coimbra, Portugal (72 males and 123 female patients) 17.24 + 6.8 years old (average age + stdev); Average treatment time was 36 ± 10 months Portuguese Caucasian origin with completed comprehensive orthodontic treatment (straight-wire technique); Six teeth were assessed: the four maxillary incisors and the two maxillary canines |
The GG genotype for rs1718119 was significantly associated with EARR (p<0.01) |
[36] |
| 12q24.31 |
Purinergic- receptor-P2X, ligand-gated ion channel 7 (P2RX7; OMIM #602566) |
rs1718119 (+1068 G/A fwd) |
Non- Synonymous Variant in Exon 11 GCT→ACT Ala348Thr Gain-of-function |
67 biologically unrelated Caucasians with moderate to severe EARR of the maxillary incisors; 38 females and 29 males 67 age and sex-matched biologically unrelated Caucasian controls All subjects from Northern Indiana, USA received standard orthodontic treatment |
No statistical association | [35] |
| 12q24.31 |
Purinergic- receptor-P2X, ligand-gated ion channel 7 (P2RX7; OMIM #602566) |
rs1718119 (+1068 G/A fwd) |
Non- Synonymous Variant in Exon 11 GCT→ACT Ala348Thr Gain-of-function |
Case-control retrospective study 99 Caucasian children of Czech origin 15.0 ± 4.7 (mean age ± standard deviation) 30 individuals with EARR of maxillary incisors(11 boys: 19 girls) 69 unrelated controls (26 boys: 43 girls) |
No association with individual SNP Association seen with rs208294 + rs1718119 haplotype and EARR |
[72] |
| 12q24.31 |
Purinergic- receptor-P2X, ligand-gated ion channel 7 (P2RX7; OMIM #602566) |
rs2230912 (A/G) |
Non- Synonymous Variant in Exon 13 CAG→CGG Gln460Arg |
67 biologically unrelated Caucasians with moderate to severe EARR of the maxillary incisors; 38 females and 29 males 67 age and sex-matched biologically unrelated Caucasian controls All subjects from Northern Indiana, USA received standard orthodontic treatment |
No statistical association | [35] |
| 18q21.33 |
Tumor Necrosis Factor Receptor Superfamily Member 11a (TNFRSF11A; OMIM #603499) Alias: Receptor Activator of NF-KB (RANK) |
D18S64 D18S64 is tightly linked to TNFRSF11A |
Microsatellite |
38 American Caucasian families with a total of 79 siblings who completed comprehensive orthodontic treatment. Evaluated EARR in the maxillary central incisors, the mandibular central incisors, and the mesial and distal roots of the mandibular first molars |
Linkage of maxillary central incisor EARR to microsatellite marker D18S64 (LOD = 2.5; p = 0.02) |
[73] |
| 18q21.33 |
Tumor Necrosis Factor Receptor Superfamily Member 11a (TNFRSF11A; OMIM #603499) Alias: Receptor Activator of NF-KB (RANK) |
rs1805034 (C/T fwd) |
Non- synonymous variant in Exon 6 GCG→GTG Val192Ala |
195 total patients from Coimbra, Portugal (72 males and 123 female patients) 17.24 + 6.8 years old (average age + stdev); Average treatment time was 36 ± 10 months Portuguese Caucasian origin with completed comprehensive orthodontic treatment (straight-wire technique); Six teeth were assessed: the four maxillary incisors and the two maxillary canines |
No statistical association | [36] |
| 8q24.12 |
Tumor Necrosis Factor Receptor Superfamily Member 11b (TNFRSF11B; OMIM #602643) Alias: (OPG) Osteoprotegerin |
rs2073618 (+1181 C/G) |
Non- Synonymous Variant AAC→AAG Asn3Lys |
135 Caucasian subjects were studied from Indiana, USA; EARR >2 mm in at least one maxillary central incisor Mean age of the patients pre-treatment was 14.6 ±6.9 years (stdev); average treatment time was 1.6 ± 0.5 years (stdev) |
G allele was associated with EARR (p= 0.003) |
[6] |
| 8q24.12 |
Tumor Necrosis Factor Receptor Superfamily Member 11b (TNFRSF11B; OMIM #602643) Alias: (OPG) Osteoprotegerin |
rs3102735 (−163 A/G rev strand) |
Promoter variation |
195 total patients from Coimbra, Portugal (72 males and 123 female patients) 17.24 + 6.8 years old (average age + stdev); Average treatment time was 36 ± 10 months Portuguese Caucasian origin with completed comprehensive orthodontic treatment (straight-wire technique); Six teeth were assessed: the four maxillary incisors and the two maxillary canines |
No statistical association | [36] |
| 8q24.12 |
Tumor Necrosis Factor Receptor Superfamily Member 11b (TNFRSF11B; OMIM #602643) Alias: (OPG) Osteoprotegerin |
rs3102735 (−163 C/T fwd strand) |
Promoter variation |
Case-control retrospective study 99 Caucasian children of Czech origin 15.0 ± 4.7 (mean age ± standard deviation) 30 individuals with EARR of maxillary incisors(11 boys: 19 girls) 69 unrelated controls (26 boys: 43 girls) |
No statistical association | [72] |
| 8q24.12 |
Tumor Necrosis Factor Receptor Superfamily Member 11b (TNFRSF11B; OMIM #602643) Alias: (OPG) Osteoprotegerin |
rs2073618 (+1181 C/G) |
Non- Synonymous Variant AAC→AAG Asn3Lys |
Case-control retrospective study 99 Caucasian children of Czech origin 15.0 ± 4.7 (mean age ± standard deviation) 30 individuals with EARR of maxillary incisors(11 boys : 19 girls) 69 unrelated controls (26 boys: 43 girls) |
No statistical association | [72] |
| 6p21.33 |
Tumor Necrosis Factor alpha (TNFα; OMIM #191160) |
rs1800629 (−308 G/A) |
Promoter variation |
38 American Caucasian families with a total of 79 siblings who completed comprehensive orthodontic treatment. Evaluated EARR in the maxillary central incisors, the mandibular central incisors, and the mesial and distal roots of the mandibular first molars |
No linkage identified | [73] |
| 1p36.12 |
Tissue- NonSpecific ALkaline Phosphatase (TNSALP; OMIM #171760) Alias: Alkaline phosphatase, tissue- nonspecific isozyme (ALPL) |
AL215L |
38 American Caucasian families with a total of 79 siblings who completed comprehensive orthodontic treatment Evaluated EARR in the maxillary central incisors, the mandibular central incisors, and the mesial and distal roots of the mandibular first molars |
No linkage identified | [73] | |
| 4q22.1 |
Osteopontin (OPN) Aliases: bone sialoprotein I (BSP-1/BNSP), secreted phosphoprotein 1 (SPP1, OMIM #166490) |
rs11730582 (−443T/C) |
5'near gene |
87 Caucasian orthodontic patients from Seville, Spain 37 with EARR (>2 mm) 50 Controls Mean length of orthodontic treatment 27.5 ± 8.3 months (stdev); EARR measured at the completion of orthodontic treatment |
Allele-2/Allele-2 [CC] increased risk of EARR (OR:11.68; p<0.039; 95%CI = 1.12–121.06) compared with other genotypes; Allele-1 [A] is protective for EARR (OR: 0.20; p=0.025; 95%CI= 0.05–0.81) |
[74] |
| 4q22.1 |
Osteopontin (OPN) Aliases: bone sialoprotein I (BSP-1/BNSP), secreted phosphoprotein 1 (SPP1, OMIM #166490) |
rs11730582 (–443T/C) |
5′near gene |
Case-control retrospective study 99 Caucasian children of Czech origin 15.0 ± 4.7 (mean age ± standard deviation) 30 individuals with EARR of maxillary incisors(11 boys : 19 girls) 69 unrelated controls (26 boys: 43 girls) |
No statistical association | [72] |
| 4q22.1 |
Osteopontin (OPN) Aliases: bone sialoprotein I (BSP-1/BNSP), secreted phosphoprotein 1 (SPP1, OMIM #166490) |
rs9138 (+1239A/C) |
3′ UTR |
87 Caucasian orthodontic patients from Seville, Spain 37 with EARR (>2 mm) 50 Controls Mean length of orthodontic treatment 27.5 ± 8.3 months (stdev); EARR measured at the completion of orthodontic treatment |
Allele-2/Allele-2 [CC] at increased risk of post- orthodontic EARR (OR: 4.10; p= 0.045; 95%CI = 1.03–16.35) Allele-1 [T] is protective for EARR (OR: 0.035; p=0.035’ 95%CI= 0.062–0.90) |
[74] |
| 4q22.1 |
Osteopontin (OPN) also known as bone sialoprotein I (BSP-1 or BNSP), secreted phosphoprotein 1 (SPP1, OMIM #166490) |
rs9138 (+1239 A/C) |
3′ UTR |
Case-control retrospective study 99 Caucasian children of Czech origin 15.0 ± 4.7 (mean age ± standard deviation) 30 individuals with EARR of maxillary incisors(11 boys : 19 girls) 69 unrelated controls (26 boys: 43 girls) |
No statistical association | [72] |
| 12q13.11 |
Vitamin D Receptor (VDR; OMIM #601769) |
rs731236 (C/T; also termed TaqI) |
Synonymous variant in Exon 1 AAT→ ATC Ile→Ile |
377 Brazilian Orthodontic Patients Diagnosed with Class II Div 1 160 individuals with EARR ≤ 1.43 179 individuals with EARR > 1.43 38 untreated individuals Mean age, 14.9 years (range, 8–21 years); EARR measured after the first 6 months of treatment |
CC+CT versus TT C allele was protective for EARR (p= 0.091; OR=0.29; 95%CI = 0.07–1.23) |
[39] |
a, b, c
References related to rs1143634 influencing IL-1B production: (a) Pociot F, Molvig J, Wogensen LW, Orsaae H, Nerup J. A Taq I polymorphism in the human interleukin-1 (IL-1) gene correlates with IL-1 secretion in vitro. Eur J Clin Invest 1992; 22:396–402. (b) Iwasaki LR, Gibson CS, Crouch LD, Marx DB, Pandey JP, Nickel JC. Speed of tooth movement is related to stress and IL-1 gene polymorphisms. Am J Orthod Dentofacial Orthop 2006; 130. 698.e1–9, and (c) Latkovski G, Licis N, Kalnins U. C-reactive protein levels and common polymorphism of the interleukin-1 gene cluster and interleukin-6 gene in patients with coronary heart disease. Eur J Immunogenet 2004; 31:207–13.
Abbreviations: OR=odds ratio; CI=confidence interval