ometendoОжирение и метаболизмObesity and metabolism2071-87132306-5524Endocrinology Research Centre10.14341/omet2017233-40ometendo-7973Research ArticleНаучные исследованияOriginal studiesАнализ роли полиморфных вариантов генов, ассоциированных с ожирением, в развитии метаболического синдрома у женщинAssociation of obesity susceptibility gene variants with metabolic syndrome in womenКочетоваОльга ВладимировнаKochetovaOlga V.

к.б.н., научный сотрудник лаборатории физиологической генетики

PhD

olga_mk78@mail.ruАхмадишинаЛейсан ЗинуровнаAkhmadishinaLeysan Z.

к.б.н., научный сотрудник лаборатории физиологической генетики

PhD

ecolab_203@mail.ruКорытинаГульназ ФаритовнаKorytinaGulnaz F.

д.б.н., старший научный сотрудник лаборатории физиологической генетики

ScD

ecolab_203@mail.ruКарповАртем АлександровичKarpovArtyom A.

врач терапевт 

MD

ecolab_203@mail.ruМустафинаОльга ЕвгеньевнаMustafinaOlga E.

Заведущий лабораторией физиологической генетики

ScD

ecolab_203@mail.ru<p>Институт биохимии и генетики Уфимского научного центра РАН</p>Россия<p>Institute of Biochemistry and Genetics of Ufa Scientific Centre of the Russian Academy of Sciences</p>Russian Federation<p>Городская клиническая больница №8</p>Россия<p>City Clinical Hospital №8</p>Russian Federation2017150920171423340Copyright &#x00A9; Кочетова О.В., Ахмадишина Л.З., Корытина Г.Ф., Карпов А.А., Мустафина О.Е., 20172017Кочетова О.В., Ахмадишина Л.З., Корытина Г.Ф., Карпов А.А., Мустафина О.Е.Kochetova O.V., Akhmadishina L.Z., Korytina G.F., Karpov A.A., Mustafina O.E.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.omet-endojournals.ru/jour/article/view/7973

Целью исследования явился репликативный анализ связи полиморфных вариантов генов, ассоциированных с ожирением, выявленных по результатам широкогеномных исследований (GWAS), с развитием кластера параметров риска метаболического синдрома у женщин башкирской и татарской этнической принадлежности. Проведен анализ полиморфных маркеров следующих генов: SEC16B, FADS1, KCTD15, MAF, MAP2K5, NEGR1, BDNF, TMEM18.

Материалы и методы

Материалы и методы. Обследованы 243 женщины с метаболическим синдромом и 298 женщин контрольной группы. Амплификацию участков ДНК проводили с помощью полимеразной цепной реакции (ПЦР) в режиме реального времени с использованием TaqMan-зондов.

Результаты

Результаты. Обнаружена ассоциация полиморфных вариантов генов MAF и TMEM18 с развитием метаболического синдрома у татарок. Информативным протективным маркером метаболического синдрома как среди татарок, так и среди башкирок являлся гаплотип Т-Т гена TMEM18 (rs2860323 и rs6548238) (р=0,005 и р=0,001 соответственно). Среди женщин-татарок установлена ассоциация маркера rs2241423 гена MAP2K5 с уровнем талии (р=0,003) и с уровнем холестерина (р=0,014), локуса rs11084753 гена KCTD15 с уровнем глюкозы после нагрузки (р=0.002), с уровнем триглицеридов (р=0,003) и уровнем ЛПВП (р=0,0008). В группе башкирок была установлена ассоциация маркера rs2241423 гена MAP2K5 с уровнем гликированного гемоглобина (р=0,002) и маркера rs174550 гена FADS1 с уровнем триглицеридов (р=0,02).

Выводы

Выводы. Полиморфные варианты генов FADS1, KCTD15, MAF, MAP2K5, TMEM18 являются важной составной частью генетической структуры предрасположенности к метаболическому синдрому и/или к кластеру клинико-биохимических показателей риска метаболического синдрома.

Aim

Aim. The aim of the study was a replicative analysis of the association of polymorphic variants of genes associated with obesity revealed by results of wide-genomic studies (GWAS) with the development of a cluster of metabolic syndrome risk parameters in women of Bashkir and Tatar ethnicity. The polymorphic markers of the following genes were analyzed: SEC16B, FADS1, KCTD15, MAF, MAP2K5, NEGR1, BDNF, TMEM18.

Materials and methods

Materials and methods. The study involved 243 women with metabolic syndrome and 298 women without the metabolic syndrome. Amplification of DNA fragments was performed using real-time PCR and TaqMan technique.

Results

Results. We found the association the metabolic syndrome with genetic markers of genes MAF and TMEM18 from Tatar. Protective informative marker of the metabolic syndrome among Tatar and Bashkir was the TT haplotype TMEM18 gene (rs2860323 and rs6548238) (р=0.005 and р=0.001, respectively). We identified the association marker rs2241423 MAP2K5 gene with the level of waist circumference (p=0.003) and with the level of cholesterol (p=0.014), the marker rs11084753 KCTD15 gene with glucose levels after exercise (p=0.002), the level of triglycerides (p=0.003) and HDL (p=0.0008) among Tatar women. We identified the association rs2241423 MAP2K5 gene marker to glycated hemoglobin level (p=0.002) and a marker gene rs174550 FADS1 with triglyceride levels (p=0.02) among Bashkir women.

Conclusion

Conclusion. It can be assumed that the polymorphic variants FADS1, KCTD15, MAF, MAP2K5, TMEM18 genes are an important part of the genetic structure of predisposition to metabolic syndrome and/or to a cluster of clinical and biochemical indicators of the risk of metabolic syndrome.

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