Abstract
Objective
Endometriosis is a common gynaecological disease, associated with severe pelvic pain
and reduced fertility; however, molecular mechanisms remain largely unknown. Genome-wide
association studies (GWAS) are able to identify genetic loci, which can play significant role during endometriosis development.
Aim
The study aimed at localisation of new genes and chromosomal loci, the nucleotide variants of which determine the level of susceptibility to endometriosis.
Study design
Blood samples from 171 patients with endometriosis were used as material for studies.
The patients were recruited to the study at the Department of Operative Gynaecology
of the Institute of the Polish Mother’s Memorial Hospital in Lodz. A control group
(n = 2934) came from the POPULOUS collection registered at Biobank Lab, Department of Molecular
Biophysics, University of Lodz. DNA of the patients with endometriosis was compared
with DNA of women free from that disease, the comparison being supported by GWAS.
Results
Genome-wide significant correlation was identified between one new, not previously
described, single nucleotide polymorphism (SNP), rs10129516, localised on chromosome
14 in intergenic region between PARP1P2 and RHOJ genes (p = 1.44 × 10−10, OR = 3.104, 95% CI = 2.329–4.136) and endometriosis. We have also identified significant association with
endometriosis of 18 SNPs localised on chromosome 6 in position range 31883957 − 32681631
(C2 and HLA-DRA genes region) with the lowest observed p value for rs644045 in C2 gene (p = 2.04 × 10−8, OR = 1.955, 95% CI = 1.541–2.480).
Conclusion
Reported GWAS identified the novel loci associated with endometriosis in Polish women, not previously reported. The most
interesting observation shown in our study are regions associated with susceptibility
to endometriosis of loci located near C2, HLA-DRA and RHOJ genes.
Results
of that study did not correspond to previously published data about polymorphism in
that regions and further evaluations are necessary in groups with higher numbers of
patients to explain whether the above-mentioned genetic variant may be the risk factor
for pathogenesis of endometriosis.
Keywords
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Article info
Publication history
Published online: September 01, 2017
Accepted:
August 29,
2017
Received in revised form:
August 25,
2017
Received:
May 4,
2017
Footnotes
☆In this report, statistically significant correlations was identified between rs10129516, localised on chromosome 14 near RHOJ gene (p = 1.44 × 10−10, OR = 3.104, 95% CI = 2.329–4.136) and endometriosis. We have also identified significant association with endometriosis of 18 SNPs localised on chromosome 6 in position range 31883957–32681631 (C2 and HLA-DRA genes region) with the lowest observed p value for rs644045 in C2 gene (p = 2.04 × 10−8, OR = 1.955, 95% CI = 1.541–2.480).
Identification
Copyright
© 2017 Elsevier B.V. All rights reserved.
