Gene Polymorphisms in FAS (Rs3740286 and Rs4064) Are Involved in Endometriosis Development in Brazilian Women, but not those in CASP8 (rs13416436 and rs2037815)

Pissetti, Cristina Wide; Tanaka, Sarah Cristina Sato Vaz; Hortolani, Andrezza Cristina Cancian; Marqui, Alessandra Bernadete Trovó de

doi:10.1055/s-0038-1667183

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Sumário

Original Article • Rev. Bras. Ginecol. Obstet. 40 (08) • Aug 2018 • https://doi.org/10.1055/s-0038-1667183 copy

Gene Polymorphisms in FAS (Rs3740286 and Rs4064) Are Involved in Endometriosis Development in Brazilian Women, but not those in CASP8 (rs13416436 and rs2037815)

Polimorfismos do gene FAS (rs3740286 e rs4064) estão envolvidos no desenvolvimento de endometriose em mulheres brasileiras, mas não os no CASP8 (rs13416436 e rs2037815)

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

Objective

The present study aims to investigate the association between caspase-8 (CASP8) (rs13416436 and rs2037815) and Fas cell surface death receptor (FAS) (rs3740286 and rs4064) polymorphisms with endometriosis in Brazilian women.

Methods

In the present case-control study, 45 women with a diagnosis of endometriosis and 78 normal healthy women as a control group were included. The genotyping was determined by real-time polymerase chain reaction (PCR) with Taqman hydrolysis probes (Thermo Fisher Scientific, Darmstadt, Germany). Genotypic and allelic frequencies were analyzed using Chi-squared (χ2) test. In order to determine the inheritance models and haplotypes ,SNPStats (Institut Català d’Oncologia, Barcelona, Spain) was used. Levels of 5% (p = 0.05) were considered statistically significant.

Results

No significant difference was observed in genotypic or allelic frequencies between control and endometriosis groups for rs13416436 and rs2037815 (CASP8 gene). On the other hand, a significant difference between rs3740286 and rs4064 (FAS gene) was found. Regarding polymorphisms in the FAS gene, a statistically significant differencewas found in co-dominant and dominantmodels. Only the haplotype containing the rs3740286A and rs4064G alleles in the FAS gene were statistically significant.

Conclusion

The polymorphisms in the CASP8 gene were not associated with endometriosis. The results indicate an association between FAS gene polymorphisms and the risk of developing endometriosis.

Keywords:
endometriosis; apoptosis; genetic polymorphism; real-time polymerase chain reaction; genetic predisposition to disease

Diagnosis
	Control group		Endometriosis		Total
Polymorphism/genotype	n	%	n	%	n	%
rs3740286(A ˃ G)
AA	26	51.0	25	49.0	51	100	p= 0.014
AG	36	76.6	11	23.4	47	100
GG	14	77.8	04	22.2	18	100
Total	76	65.5	40	34.5	116	100
rs4064 (C ˃ G)
CC	26	76.5	08	23.5	34	100	p= 0.039
GC	17	56.7	13	43.3	30	100
GG	04	36.4	07	63.6	11	100
Total	47	62.7	28	37.3	75	100
rs13416436 (A > T)
AA	02	100	00	0.00	02	100	p= 0.42
AT	15	71.4	06	28.6	21	100
TT	60	62.5	36	37.5	96	100
Total	77	64.7	42	35.3	119	100
rs2037815 (A > G)
AA	21	60.0	14	40.0	35	100	p= 0.39
AG	33	64.7	18	35.3	51	100
GG	12	80.0	03	20.0	15	100
Total	66	65.3	35	34.7	101	100

Diagnosis
	Control group		Endometriosis		Total
G presence rs3740286	n	%	n	%	n	%
No	26	51.0	25	49.0	51	100	p= 0.004
Yes	50	76.9	15	23.1	65	100	OR = 0.31
Total	76	65.5	40	34.5	116	100
G presence rs4064
No	26	76.5	08	23.5	34	100	p= 0.024
Yes	21	51.2	20	48.8	41	100	OR = 3.09
Total	47	62.7	28	37.3	75	100
A presence rs13416436
No	60	62.5	36	37.5	96	100	p= 0.30
Yes	17	73.9	06	26.1	23	100	OR = 0.59
Total	77	64.7	42	35.3	119	100
G presence rs2037815
No	21	60.0	14	40.0	35	100	p= 0.41
Yes	45	68.2	21	31.8	66	100	OR = 0.7
Total	66	65.3	35	34.7	101	100

Gene/SNP	Model	OR (95%CI)	p-value
FAS rs3740286	Codominant (AA x AG x GG)	1.00
		3.03 (1.24–7.41)	0.02
		3.24 (0.92–11.35)
	Dominant (AA x AG + GG)	1.00
		3.09 (1.36–6.99)	0.006
	Recessive (AA + AG x GG)	1.00
		1.99 (0.60–6.59)	0.24
FAS rs4064	Codominant (GG x CG x CC)	1.00
		0.35 (0.11–1.06)	0.04
		0.20 (0.04–0.88)
	Dominant (CC x CG + GG)	1.00
		0.30 (0.10–0.84)	0.01
	Recessive (CC + CG x GG)	1.00
		0.33 (0.08–1.29)	0.11
CASP8 rs13416436	Codominant (TT x AT x AA)	1.00
		1.64 (0.56–4.76)	0.34
		−
	Dominant (TT x AT + AA)	1.00
		1.80 (0.63–5.16)	0.26
	Recessive (TT + AT x AA)	1.00
		−	0.24
CASP8 rs2037815	Codominant (AA x AG x GG)	1.00
		1.49 (0.59–3.77)	0.34
		2.80 (0.64–12.20)
	Dominant (AA x AG + GG)	1.00
		1.49 (0.59–3.77)	0.25
	Recessive (AA + AG x GG)	1.00
		2.21 (0.56–8.66)	0.23

Gene	Haplotype	ED	Control	OR (95%CI)	p-value
CASP8	T-A	0.6494	0.4459	1.00	—
	T-G	0.2824	0.4308	1.74 (0.89 - 3.39)	0.11
	A-A	0	0.1234	2.10 (0.77 - 5.77)	0.15
	A-G	0.0682	0
FAS	G-C	0.2111	0.4048	1.00	—
	A-G	0.4489	0.2558	0.33 (0.15–0.72)	0.0062
	A-C	0.3139	0.3231	0.66 (0.31–1.39)	0.27
	G-G	0.0262	0.0162	1.17 (0.07–20.52)	0.92

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[1] Address for correspondence Cristina Wide Pissetti, PhD, Departamento de Obstetrícia e Ginecologia, Universidade Federal da Paraíba, Campus I, S/N, Castelo Branco, João Pessoa, PB, 58051-900, Brazil (e-mail: cristinawpissetti@gmail.com).