Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (<i>PTPN22</i>) with endometriosis: a meta-analysis

Pabalan, Noel; Jarjanazi, Hamdi; Christofolini, Denise Maria; Bianco, Bianca; Barbosa, Caio Parente

doi:10.1590/S1679-45082017RW3827

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REVIEW • Einstein (São Paulo) 15 (1) • Jan-Mar 2017 • https://doi.org/10.1590/S1679-45082017RW3827 copy

Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (PTPN22) with endometriosis: a meta-analysis

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

Objective

To evaluate PTPN22 C1858T polymorphism and the risk of endometriosis.

Methods

A meta-analysis of 10 published case-control studies (from four articles), with a total sample of 971 cases and 1,181 controls, was performed. We estimated risk (odds ratio and 95% confidence intervals) of endometriosis associations with the C1858T polymorphism.

Results

A significant increased risk in all genetic models of the variant T allele with endometriosis (odds ratio: 3.14-5.55; p<0.00001-0.002) was found. The analysis without the study whose controls deviated from the Hardy-Weinberg equilibrium exacerbated these effects in the homozygous and recessive models (odds ratio: 7.19-9.45; p<0.00001-0.0002). In the Italian subgroup, a significant risk association was found in the homozygous and recessive models (odds ratio: 8.72-11.12; p=0.002).

Conclusion

The associations observed between PTPN22 (C1858T) and the risk of endometriosis suggest this polymorphism might be a useful susceptibility marker for this disease.

Protein tyrosine phosphatases, non-receptor; Polymorphism, genetic; Endometriosis

First author	PY	Country	Number of studies	Ethnic group	Study design	Diagnosis of endometriosis	Controls	Matching	NOS
Ammendola et al.⁽¹³⁾	2008	Italy	2	Caucasian	PB	Laparoscopic intervention	163 males and 69 females, both healthy	Not matched	7
Płoski et al.⁽¹⁴⁾	2009	Poland	1	Caucasian	PB	Laparoscopic and histopathological examinations	310 anonymous unrelated adults representative of the population of Central Poland. No information on affliction status regarding endometriosis	Matched by ethnicity	7
Gomes et al.⁽¹⁵⁾	2010	Brazil	1	Multi-ethnic	PB	Laparoscopic and histopathological examinations	180 fertile non-menopausal women without history of endometriosis and/or autoimmune diseases who underwent tubal ligation	Not matched	6
Gloria-Bottini et al.⁽¹⁶⁾	2013	Italy	6	Caucasian	PB	Laparoscopic intervention; histologically confirmed	359 healthy blood donors	Not matched	7

First author	Study identifier*	Genotype frequencies						Minor allele frequencies	Hardy-Weinberg equilibrium

		Case			Control

		CC	CT	TT	CC	CT	TT
Ammendola et al. ⁽¹³⁾	Female controls ♀	110	22	0	67	1	1	0.02	<0.0001
Ammendola et al. ⁽¹³⁾	Male controls ♂	110	22	0	151	12	0	0.04	0.63
Płoski et al.⁽¹⁴⁾	-	129	38	4	238	68	4	0.12	0.73
Gomes et al.⁽¹⁵⁾	-	95	42	3	149	29	2	0.09	0.66
Gloria-Bottini et al.⁽¹⁶⁾	ACP1 C allele	13	17	5	319	39	1	0.06	0.87
Gloria-Bottini et al.⁽¹⁶⁾	ACP1 other genotypes	75	21	1	319	39	1	0.06	0.87
Gloria-Bottini et al.⁽¹⁶⁾	P53 codon Pro allele	44	24	4	319	39	1	0.06	0.87
Gloria-Bottini et al.⁽¹⁶⁾	P53 codon Arg/Arg genotype	48	11	1	319	39	1	0.06	0.87
Gloria-Bottini et al.⁽¹⁶⁾	Duration >6 months	25	19	4	319	39	1	0.06	0.87
Gloria-Bottini et al.⁽¹⁶⁾	Duration <6 months	70	13	1	319	39	1	0.06	0.87

	Number of studies	Homozygous			Recessive			Number of studies	Dominant			Co-dominant

		OR (95%CI) p value	P_het	I²	OR (95%CI) p value	P_het	I²		OR (95%CI) p value	P_het	I²	OR (95%CI) p value	P_het	I²
Overall	9	5.55 (1.86-16.55) 0.002	0.03	52	3.23 (1.86-5.59) <0.0001	<0.0001	85	10	3.14 (1.91-5.17) <0.0001	<0.0001	83	3.14 (1.93-5.10) <0.0001	<0.0001	86
HWE only	8	9.45 (2.91-30.71) 0.0002	0.02	57	7.19 (2.61-19.82) <0.0001	0.09	43	9	2.99 (1.78-5.02) <0.0001	<0.0001	85	3.08 (1.84-5.14) <0.0001	<0.0001	88
Italian studies only	7	11.12 (2.44-50.71) 0.002	0.02	59	8.72 (2.27-33.53) 0.002	0.07	49	8	3.83 (2.28-6.45) <0.0001	<0.0001	76	3.86 (2.40-6.21) <0.0001	<0.0001	78
Brazil*	1	2.35 (0.39-14.34)	-	-	1.95 (0.32-11.83)	-	-	1	2.28 (1.35-3.85)	-	-	2.05 (1.28-3.29)	-	-
Poland*	1	1.84 (0.45–7.50)	-	-	1.83 (0.45-7.42)	-	-	1	1.08 (0.70-1.67)	-	-	1.11 (0.75-1.65)	-	-

	Number of studies	Egger Regression		Begg Mazumdar

		Intercept	p value	Kendall’s t	p value
Dominant	10	4.85	0.11	0.38	0.13
Co-dominant	10	4.07	0.26	0.24	0.33

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[1] Corresponding author: Bianca Bianco – Avenida Príncipe de Gales, 821 – Vila Príncipe de Gales – Zip code: 09060-650 – Santo André, SP, Brazil – Phone: (55 11) 4993-5464 – E-mail: bianca.bianco@fmabc.br