Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population

Viana, Paula Coelho Silva; Mendes, Ana Carolina Delgado Malvaccini; Delgado, Lucas Farah; Tostes, Gustavo; Gonçalves, Lidiane; Gonçalves Júnior, Homero; Raposo, Nádia Rezende Barbosa; Vitral, Geraldo Sérgio Farinazzo; Gerheim, Pamela Souza Almeida Silva

doi:10.1055/s-0040-1708460

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Revista Brasileira de Ginecologia e Obstetrícia

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Sumário

Original Article, Endometriosis • Rev. Bras. Ginecol. Obstet. 42 (3) • Mar 2020 • https://doi.org/10.1055/s-0040-1708460 copy

Association between Single Nucleotide Polymorphisms and Endometriosis in a Brazilian Population

Associação de polimorfismos de único nucleotídeo com a endometriose em uma população brasileira

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

Objective

To investigate the association between genetic polymorphisms in candidate genes or candidate regions and the development of endometriosis in Brazilian women.

Methods

A total of 30 women between 25 and 64 years old with a diagnosis of endometriosis participated in the present study, as well as 30 matched control women from the same age group, asymptomatic and without family history of the disease. The patients genotypic and allelic frequencies of polymorphisms in the GREB1 gene (rs13394619) and in the intergenic region at position 7p15.2 (rs12700667) were analyzed and compared.

Results

There was no significant difference in the frequency of genotypes for the A > G polymorphism (rs13394619) in the GREB1 gene between the two groups. However, the distribution frequencies of the genotypes for the A > G polymorphism (rs12700667) in an intergenic region on chromosome 7 were different for control patients and for patients with endometriosis, with higher frequency of the AG genotype compared to the GG between patients with the disease (odds ratio [OR] = 3.49; confidence interval [CI] = 1.47–8.26).

Conclusion

The present study suggests that the polymorphism in the intergenic region of chromosome 7 is associated with the risk of developing endometriosis in a population of Brazilian women from Juiz de Fora.

Keywords
endometriosis; polymorphism; single nucleotide; genetics

Character	Controls (n = 30)	Endometriosis (n = 30)	p-value
Age (years old)	45.2 ± 12.5	36.7 ± 8.1	0.002 ^a a the unpaired t-test;
Skin colour (white, %)^* * Self-reported skin colour (as a surrogate for race based on Brazilian census categories). The analyses were developed using:	40	27	0.270^b b the chi-square test;
Red blood cell, 10⁶/L	4.71 ± 0.50	4.60 ± 0.52	0.404^a a the unpaired t-test;
Haemoglobin, g/dL	13.54 ± 1.09	12.90 ± 1.11	0.024 ^b b the chi-square test;
Hematocrit, %	41.48 ± 3.62	39.12 ± 3.26	0.003 ^c c Mann-Whitney.
Leucocyte count, x10³/L	8.13 ± 2.03	7.71 ± 2.32	0.346^c c Mann-Whitney.
Platelet count, 10⁵x mm³	2.47 ± 0.52	2.64 ± 0.82	0.563^c c Mann-Whitney.

Gene/ SNP	Genotypes /Alleles	All % (n)	Controls % (n)	Cases % (n)	p-value^a a The analyses were developed using the chi-square test. Bold values indicate that the values have statistical significance.	OR (95%CI)
GREB1	AA	42 (25)	43 (13)	40 (12)	0.428	1.00
rs13394619	AG	42 (25)	43 (13)	40 (12)		1.00 (0.54-1.84)^b b The odds ratio of the AG and GG genotypes against the AA genotype for rs13394619.
	GG	17 (10)	13 (4)	20 (6)		1.65 (0.73-3.76)^b b The odds ratio of the AG and GG genotypes against the AA genotype for rs13394619.
	A	63 (75)	65 (39)	60 (36)	0.559	1.00
	G	38 (45)	35 (21)	40 (24)		1.24 (0.70-2.20)^c c The odds ratio of the A allele against the G allele for rs13394619.
Intergenic	GG	17 (10)	23 (7)	10 (3)	0.013	1.00
region	GA	42 (25)	33 (10)	50 (15)		3.49 (1.47-8.26)^d d The odds ratio of the AG and AA genotypes against the GG genotype for rs12700667.
rs12700667	AA	42 (25)	43 (13)	40 (12)		2.14 (0.91-5.05)^d d The odds ratio of the AG and AA genotypes against the GG genotype for rs12700667.
	G	38 (45)	40 (24)	35 (21)	0.465	1.00
	A	63 (75)	60 (36)	65 (39)		1.24 (0.59-2.60)^e e The odds ratio of the G allele against the A allele for rs12700667.

Polymorphism	Population	Study
		HapMap	gnomAD-Genomes	1000 genomes
GREB1^* * G allele was considered less frequent; (rs13394619)	Global	−	0.41	0.38
	European	0.53	0.52	0.47
	African	0.06	0.14	0.08
	Asian	0.48	0.48^a a East Asian ancestry;	0.51^a a East Asian ancestry;
	American	−	0.44	0.41
Intergenic region^* * G allele was considered less frequent; (rs12700667)	Global	−	0.39	0.54
	European	0.24^b b Caucasian European ancestry;	0.27	0.28
	African	0.64^c c YRI: Yoruba Sub-Saharan African ancestry;	0.56	0.62
	Asian	0.81^d d HCB: Han Chinese ancestry.	0.84	0.82^a a East Asian ancestry;
	American	−	0.40	0.36

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[1] Address for correspondence Pâmela Souza Almeida Silva Gerheim, PhD, Departamento de Farmacologia, Universidade Federal de Juiz de Fora, Rua José Lourenço Kelmer, s/n, São Pedro, 36036-900, Juiz de de Fora, MG, Brazil (e-mail: pamela.souza@ufjf.edu.br).