References

akusherstvo

Obstetrics, Gynecology and Reproduction

Акушерство, Гинекология и Репродукция

2313-73472500-3194

IRBIS LLC

10.17749/2313-7347/ob.gyn.rep.2023.434

akusherstvo-1738

Research Article

REVIEW ARTICLES

НАУЧНЫЕ ОБЗОРЫ

The role of genetic factors in developing endometrioid lesions

Роль генетических факторов в формировании эндометриоидных поражений

https://orcid.org/0009-0007-8533-9319

Пономарева

Т. А.

Ponomareva

T. A.

Пономарева Татьяна Андреевна – аспирант кафедры медико-биологических дисциплин ФГАОУ ВО «Белгородский государственный национальный исследовательский университет»; врач акушер-гинеколог родового отделения ОГБУЗ «Белгородская областная клиническая больница Святителя Иоасафа»

308015 Белгород, ул. Победы, д. 85308000 Белгород, ул. Некрасова, д. 8/9

Tatiana A. Ponomareva – MD, Postgraduate Student, Department of Medical and Biological Disciplines, Belgorod National Research University; Obstetrician-Gynecologist, Obstetric Department, Belgorod Regional Clinical Hospital of St. Joasaph

85 Pobedy Str., Belgorod 3080158/9 Nekrasova Str., Belgorod 308000

635684@bsu.edu.ru

https://orcid.org/0000-0003-4674-8797

Алтухова

О. Б.

Altukhova

O. B.

Алтухова Оксана Борисовна – д.м.н., доцент, зав. кафедрой акушерства и гинекологии ФГАОУ ВО «Белгородский государственный национальный исследовательский университет»; зав. отделением гинекологии ОГБУЗ «Белгородская областная клиническая больница Святителя Иоасафа»

Scopus Author ID: 57216900558

308015 Белгород, ул. Победы, д. 85308000 Белгород, ул. Некрасова, д. 8/9

Oxana B. Altukhova – MD, Dr Med Sci, Associate Professor, Head of the Department of Obstetrics and Gynecology, Belgorod National Research University; Head of Gynecological Department, Belgorod Regional Clinical Hospital of St. Joasaph

Scopus Author ID: 57216900558

85 Pobedy Str., Belgorod 3080158/9 Nekrasova Str., Belgorod 308000

https://orcid.org/0000-0002-5652-0166

Пономаренко

И. В.

Ponomarenko

I. V.

Пономаренко Ирина Васильевна – д.м.н., доцент кафедры медико-биологических дисциплин

Scopus Author ID: 57190225823

308015 Белгород, ул. Победы, д. 85

Irina V. Ponomarenko – MD, Dr Med Sci, Associate Professor, Department of Medical and Biological Disciplines

Scopus Author ID: 57190225823

85 Pobedy Str., Belgorod 308015

https://orcid.org/0000-0003-1254-6134

Чурносов

М. И.

Churnosov

M. I.

Чурносов Михаил Иванович – д.м.н., профессор, зав. кафедрой медико-биологических дисциплин

Scopus Author ID: 6601948788

308015 Белгород, ул. Победы, д. 85

Mikhail I. Churnosov – MD, Dr Med Sci, Professor, Head of the Department of Medical and Biological Disciplines

Scopus Author ID: 6601948788

85 Pobedy Str., Belgorod 308015

ФГАОУ ВО «Белгородский государственный национальный исследовательский университет»; ОГБУЗ «Белгородская областная клиническая больница Святителя Иоасафа»РоссияBelgorod National Research University; Belgorod Regional Clinical Hospital of St. JoasaphRussian Federation

ФГАОУ ВО «Белгородский государственный национальный исследовательский университет»РоссияBelgorod National Research UniversityRussian Federation

2023

08082023

174443454

2023

Пономарева Т.А., Алтухова О.Б., Пономаренко И.В., Чурносов М.И.

Ponomareva T.A., Altukhova O.B., Ponomarenko I.V., Churnosov M.I.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.gynecology.su/jour/article/view/1738

Here, we analyze the data on genetic factors involved in developing endometriosis available in current publications. To date, the genome-wide associative studies (GWAS) have revealed more than 190 loci associated with endometriosis development, however, only few polymorphisms were associated with this disease identified in two GWAS (rs1537377 CDKN2B-AS1, rs71575922 SYNE1, rs11674184 GREB1, rs1903068 KDR, rs2235529 WNT4, rs7412010 CDC42), and only one rs12700667 TSEN15P3/MIR148A polymorphic locus in four studies. Several polymorphisms located in the region of two genes GREB1 (rs11674184, rs13394619, rs35417544) and WNT4 (rs2235529, rs12037376, rs7521902) are associated with endometriosis in several GWAS. The association of 5 polymorphic loci with endometriosis was confirmed in two or more replication studies: rs13394619 GREB1, rs7521902 MIR4418/WNT4, rs1250248 FN1 and rs6542095 CKAP2L/IL1A – in two studies, rs12700667 TSEN15P3/MIR148A – in four studies. At the same time, the relationship between the vast majority of GWAS-significant polymorphic loci (more than 95 %) and endometriosis has not been confirmed in other independent studies, necessitating a need to continue endometriosis-related genetic studies, including those aimed at confirming previously identified associations.

В обзоре приведен анализ данных о генетических факторах развития эндометриоза, отраженных в современной литературе. На сегодняшний день проведенные полногеномные ассоциативные исследования (англ. genome-wide association studies, GWAS) позволили выявить более 190 локусов, ассоциированных с развитием эндометриоза, однако лишь небольшая часть полиморфизмов была ассоциирована с данным заболеванием в двух GWAS (rs1537377 CDKN2B-AS1, rs71575922 SYNE1, rs11674184 GREB1, rs1903068 KDR, rs2235529 WNT4, rs7412010 CDC42) и лишь один полиморфный локус – rs12700667 TSEN15P3/MIR148A – в четырех исследованиях. Несколько полиморфизмов, расположенных в регионе двух генов – GREB1 (rs11674184, rs13394619, rs35417544) и WNT4 (rs2235529, rs12037376, rs7521902), ассоциированы с эндометриозом в нескольких GWAS. Результатом проведенных репликативных исследований стало подтверждение ассоциации с заболеванием пяти полиморфных локусов в двух и более работах: rs13394619 GREB1, rs7521902 MIR4418/WNT4, rs1250248 FN1 и rs6542095 CKAP2L/IL1A – в двух исследованиях, rs12700667 TSEN15P3/MIR148A – в четырех. Вместе с этим связь подавляющего большинства GWAS-значимых полиморфных локусов (более 95 %) с эндометриозом не подтверждена в других независимых исследованиях, что диктует необходимость продолжения генетических исследований эндометриоза, в том числе направленных на подтверждение ранее выявленных ассоциаций.

эндометриозгены-кандидатыполиморфизмассоциацииполногеномные исследования

endometriosiscandidate genespolymorphismassociationsgenome-wide studies

Авторы заявляют об отсутствии финансовой поддержки.

The authors declare no funding.

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The authors declare that there are no conflicts of interest present.