Investigation of a genetic association of a class III skeletal pattern

Begüm Tunasoylu; Yazgı Ay Ünüvar; İbrahim Halil Erdoğdu

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Investigation of a genetic association of a class III skeletal pattern

Begüm Tunasoylu

Yazgı Ay Ünüvar

İbrahim Halil Erdoğdu

| 12 janv. 2022

Australasian Orthodontic Journal

Édition 38 (2022): Edition 1 (January 2022)

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Article Category: research-article

Publié en ligne: 12 janv. 2022

Pages: 162 - 172

Reçu: 01 févr. 2022

Accepté: 01 avr. 2022

DOI: https://doi.org/10.21307/aoj-2022-001

© 2022 Begüm Tunasoylu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

A CONSORT diagram showing patient flow through the study.

Linear measurements. 1. Wits appraisal. 2. Sella-nasion (S-N). 3. Sella-articulare (S-Ar). 4. Sella-basion (S-Ba). 5. Ramus height (articulare-gonion; Ar-Go). 6. Corpus length (gonion-pogonion’; Go-Pog’). 7. Anterior nasal spina-Posterior nasal spina (ANS-PNS). 8. Mandibular length (gonion-menton; Go-Me). 9. Effective length of mandible (condylion-pogonipn; Co-Pog). 10. Effective midface legth (condylion-A point; Co-A). 11. Maxillomandibular difference. 12. Maxillary length (A point’-ptrygomaxillary point’; A’-Ptm’). 13. Lower face height (anterior nasal spina-menton; ANS-Me). 14. Nasion perpendicular-A point (Nperp-A). 15. Nasion perpendicular-pogonion (Nperp-Pog).

Association between rs1793953 polymorphism and cephalometric values in the total sample.

	rs1793953
	CC (n = 41)	TT (n = 92)	CT (n = 122)	p
Height	168.16 ± 8.63	168.05 ± 6.89	168.90 ± 7.98	0.706
Ar-Go	43.78 ± 5.23	44.64 ± 4.68	43.93 ± 4.46	0.462
Go-Pog’	71.21 ± 5.73	71.43 ± 4.84	70.57 ± 7.28	0.588
Go-Me	63.59 ± 5.67	63.84 ± 4.81	64.16 ± 6.43	0.838
Co-Gn	108.49 ± 8.07	109.10 ± 7.54	108.29 ± 7.97	0.751
Nperp-pog	1.04 ± 6.00	1.63 ± 6.95	3.31 ± 7.59	0.106
A’-Ptm’	46.36 ± 4.22	46.70 ± 3.30	46.41 ± 4.22	0.836
CoA	75.02 ± 5.65	74.39 ± 8.49	74.98 ± 6.69	0.816
Nperp-A	-0.95 ± 3.40	-0.75 ± 3.21	-0.68 ± 3.55	0.908
Maxillomandibular difference	33.07 ± 6.01	33.46 ± 5.99	33.34 ± 5.62	0.940
S-N	64.17 ± 3.99	64.18 ± 3.55	64.16 ± 3.88	0.998
S-Ar	33.10 ± 4.30	33.00 ± 4.03	33.29 ± 3.98	0.873
S-Ba	40.56 ± 4.28	41.44 ± 3.83	41.29 ± 4.25	0.506
ANS-Me	61.34 ± 5.43	62.21 ± 5.59	59.93 ± 8.52	0.066

Statistical analysis of alleles and genotypes of rs6182, rs6184 and rs1793953 loci and dominant and recessive model of rs1793953 loci.

		Group		MP-Control		MR-Control
Gene	Mandibular Prognathism (n = 85)	Maxillary Retrognathism (n = 85)	Control (n = 85)	p		p
rs6182
Allele
G	165 (97.1)	169 (99.4)	169 (99.4)	0.215		1.000
T	5 (2.9)	1 (0.6)	1 (0.6)
Genotype
GG	80 (94.1)	84 (98.8)	84 (98.8)	0.210		1.000
GT	5 (5.9)	1 (1.2)	1 (1.2)
rs6184
Allele
C	166 (97.6)	169 (99.4)	169 (99.4)	0.371		1.000
A	4 (2.4)	1 (0.6)	1 (0.6)
Genotype
CC	81 (95.3)	84 (98.8)	84 (98.8)	0.368		1.000
AC	4 (4.7)	1 (1.2)	1(1.2)
rs1793953
Allele
C	69 (40.6)	73 (42.9)	62(36.5)	0.435		0.223
T	101 (59.4)	97 (57.1)	108(63.5)
Genotype
CC	11 (12.9)	16 (18.8)	14 (16.5)	0.135		0.362
TT	27 (31.8)	28 (32.9)	37 (43.5)
CT	47 (55.3)	41 (48.2)	34 (40.0)
Dominant model				p	OR (95%CI)	p	OR (95%CI)
CC + CT	58 (68.2)	57 (67.1)	48 (56.5)	0.113	1.65(0.88 − 3.09)	0.155	1.56(0.84 − 2.92)
TT	27 (31.8)	28 (32.9)	37 (43.5)
Recessive model
CC	11 (12.9)	16 (18.8)	14 (16.5)	0.665	0.75(0.32 − 1.77)	0.841	1.17(0.53 − 2.59)
CT + TT	74 (87.1)	69 (81.1)	71 (83.5)

Demographic characteristics of all patients.

Variable		Mandibular prognathism (n = 85)			Maxillary retrognathism (n = 85)			Control (n = 85)		p
Sex	Female		Male	Female		Male	Female		Male
	(n = 49)		(n = 36)	(n = 53)		(n = 32)	(n = 52)		(n = 33)
Age (years)		19.41 ± 8.26			18.27 ± 5.89			17.69 ± 2.06		0.165
	17.73 ± 5.55		21.69 ± 10.6	17.62 ± 4.07		19.34 ± 8.02	17.69 ± 2.16		17.70 ± 1.92
Height (cm)		168.89 ± 8.74			167.78 ± 7.15			168.78 ± 7.15		0.585
	165.51 ± 6.76		173.39 ± 9.18	165.49 ± 6.29		171.56 ± 6.95	165.85 ± 5.41		173.39 ± 7.19
SNA		82.18 ± 1.60			76.62 ± 1.66			81.85 ± 3.81		0.000^***
	82.04 ± 1.67		82.36 ± 1.51	76.62 ± 1.76		76.62 ± 1.49	82.08 ± 3.90		81.49 ± 3.70
SNB		85.42 ± 2.42			80.04 ± 1.31			79.84 ± 3.80		0.000^***
	84.98 ± 2.68		86.02 ± 2.43	79.88 ± 1.35		80.28 ± 1.22	78.79 ± 3.90		78.91 ± 3.69
ANB		-3.35 ± 1.85			-3.58 ± 1.48			2.91 ± 0.97		0.000^***
	-3.12 ± 1.55		-3.66 ± 2.17	-3.52 ± 1.40		-3.65 ± 1.61	3.12 ± 1.10		2.58 ± 0.70
Wits		-9.42 ± 3.12			-9.16 ± 3.40			0.39 ± 0.62		0.000^***
	-8.65 ± 2.36		-10.47 ± 3.69	-8.94 ± 3.24		-9.53 ± 3.67	0.35 ± 0.48		0.46 ± 0.79

Characteristics of the SNPs studied.

Genes	SNP ID	Location	Type of alteration	Alleles	Global MAF
GHR	rs6182	chr5:42718826	missense variant	G > T	0.07
GHR	rs6184	chr5:42719242	missense variant	C > A	0.07
COL2A1	rs1793953	chr12:47999743	intron variant	C > T	0.44

Association between rs6182 polymorphism and cephalometric values; rs6184 polymorphism and cephalometric values in the total sample.

	rs6182
	GG (n = 248)	GT (n = 7)	p
Height	168.34 ± 7.68	173.14 ± 7.28	0.105
Ar-Go	43.99 ± 4.52	50.29 ± 6.10	0.000***
Go-Pog’	70.94 ± 6.29	72.58 ± 4.58	0.493
Go-Me	63.94 ± 5.80	64.29 ± 4.19	0.876
Co-Gn	108.46 ± 7.80	113.86 ± 6.81	0.072
Nperp-pog	2.25 ± 7.20	5.28 ± 4.78	0.272
A’-Ptm’	46.46 ± 4.28	48.28 ± 3.54	0.224
CoA	74.75 ± 7.30	75.86 ± 4.59	0.689
Nperp-A	-0.73 ± 3.43	-1.50 ± 2.04	0.558
Maxillomandibular difference	33.23 ± 5.75	37.29 ± 6.29	0.068
S-N	64.17 ± 3.77	64.29 ± 4.15	0.934
S-Ar	33.18 ± 3.98	32.14 ± 5.98	0.504
S-Ba	41.22 ± 4.11	41.28 ± 4.23	0.972
ANS-Me	60.88 ± 7.16	64.57 ± 7.13	0.180
	rs6184
	CC (n = 249)	AC (n = 6)	p
Height	168.34 ± 7.67	174.00 ± 7.58	0.076
Ar-Go	44.01 ± 4.52	50.50 ± 6.65	0.001**
Go-Pog’	70.95 ± 6.28	72.30 ± 4.95	0.603
Go-Me	63.94 ± 5.79	64.17 ± 4.57	0.926
Co-Gn	108.47 ± 7.78	114.33 ± 7.33	0.069
Nperp-pog	2.28 ± 7.21	4.58 ± 4.82	0.439
A’-Ptm’	46.47 ± 3.90	48.00 ± 3.79	0.346
CoA	74.73 ± 7.28	76.50 ± 4.68	0.556
Nperp-A	-0.73 ± 3.42	-1.61 ± 2.21	0.532
Maxillomandibular difference	33.25 ± 5.75	37.00 ± 6.84	0.118
S-N	64.16 ± 3.76	64.50 ± 4.50	0.828
S-Ar	33.14 ± 4.04	33.83 ± 4.35	0.677
S-Ba	41.20 ± 4.12	42.16 ± 3.86	0.574
ANS-Me	60.86 ± 7.15	65.67 ± 7.14	0.106

Comparison of lateral cephalometric measurements between groups.

	Group
	Mandibular Prognathism (n = 85)	Maxillary Retrognathism (n = 85)	Control (n = 85)	p
SNA (°)	82.18 ± 1.60^a	76.62 ± 1.66^b	81.85 ± 3.81^a	0.000^***
A’-Ptm’ (mm)	47.00 ± 4.21^a	44.51 ± 3.10^b	48.02 ± 3.50^a	0.000^***
CoA (mm)	76.01 ± 10.12^b	73.22 ± 4.48^a	77.09 ± 5.22^b	0.000^***
Nperp-A (mm)	-0.67 ± 3.47^a	-2.13 ± 2.91^b	0.53 ± 3.30^c	0.000^***
SNB (°)	85.42 ± 2.42^a	80.04 ± 1.31^b	79.84 ± 3.80^b	0.000^***
Ar-Go (mm)	45.46 ± 5.19^a	43.48 ± 4.07^b	43.85 ± 4.44^b	0.004^**
Go-Pog (mm)	72.55 ± 5.72^a	69.90 ± 7.94^b	70.51 ± 4.29^b	0.015^***
Go-Me (mm)	65.80 ± 7.60^a	63.49 ± 4.47^b	62.55 ± 4.11^b	0.000^***
Co-Gn (mm)	110.87 ± 9.69^a	105.18 ± 6.30^b	105.79 ± 6.12^b	0.000^***
Nperp-pog (mm)	6.34 ± 6.65^a	2.07 ± 6.55^b	-1.39 ± 6.15^c	0.000^***
ANB (°)	-3.35 ± 1.85^a	-3.58 ± 1.48^a	2.91 ± 0.97^b	0.000^***
Wits (mm)	-9.42 ± 3.12^a	-9.16 ± 3.40^a	0.39 ± 0.62^b	0.000^***
Maxillomandibular difference (mm)	35.84 ± 5.25^a	35.84 ± 4.78^a	28.34 ± 3.67^b	0.000^***
S-N (mm)	63.88 ± 4.08	63.91 ± 3.32	64.02 ± 3.76	0.132
S-Ar (mm)	33.74 ± 4.45^a	31.45 ± 3.40^b	34.27 ± 3.67^a	0.000^***
S-Ba (mm)	42.11 ± 4.86^a	39.98 ± 3.75^b	41.61 ± 3.30^a	0.002^**
ANS-Me (mm)	61.81 ± 9.42	61.47 ± 5.98	59.81 ± 5.35	0.107

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Investigation of a genetic association of a class III skeletal pattern

Article Category: research-article

Publié en ligne: 12 janv. 2022

Pages: 162 - 172

Reçu: 01 févr. 2022

Accepté: 01 avr. 2022

DOI: https://doi.org/10.21307/aoj-2022-001

© 2022 Begüm Tunasoylu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Figure 1.

Figure 2.

Association between rs1793953 polymorphism and cephalometric values in the total sample.

Statistical analysis of alleles and genotypes of rs6182, rs6184 and rs1793953 loci and dominant and recessive model of rs1793953 loci.

Demographic characteristics of all patients.

Characteristics of the SNPs studied.

Association between rs6182 polymorphism and cephalometric values; rs6184 polymorphism and cephalometric values in the total sample.

Comparison of lateral cephalometric measurements between groups.