Molecular Biology Reports

, Volume 39, Issue 6, pp 6835–6842 | Cite as

Genetic variations in SREBP-1 and LXRα are not directly associated to PCOS but contribute to the physiological specifics of the syndrome

  • Birgit Knebel
  • Onno E. Janssen
  • Susanne Hahn
  • Sylvia Jacob
  • Ulrike Nitzgen
  • Jutta Haas
  • Dirk Muller-Wieland
  • Jorg Kotzka


The polycystic ovary syndrome (PCOS) is a complex endocrine-metabolic disorder consisting of reproductive disturbances associated with all aspects of the metabolic syndrome and genetic components in the pathology of this complex disease is very likely. Accordingly, variations in single genes might affect specific features of PCOS and thereby help to define different subgroups. SREBP-1 or LXRα have been shown to be genetically linked to lipid metabolism or insulin sensitivity. As these are two major aspects of the PCOS phenotype, we evaluated both genes in a cohort of 153 PCOS patients. Analyses of both genes revealed in SREBF-1, i.e. SREBP-1a and SREBP-1c, not any variation and in the LXRα gene no novel sequence variations. Common variants of LXRα (rs2279238:G; all:0.8658; PCOS:0.8627; controls: 0.8686 or A: all:0.13412; PCOS:0.1373; controls:0.1314; (OR (95% CI) 0.9508 (0.4226–2.1385); rs11039155: G: all:0.8767; PCOS:0.8663; controls:0.8857 and A all:0.1233; PCOS:0.1337; controls:0.1143; (OR (95% CI) 0.8383 (0.3618–1.9371)) were also not directly associated to PCOS. Combined analyses of both polymorphism revealed that there was no difference of distribution between the groups. In contrast, analyses of the impact of these polymorphisms on metabolic parameters of the syndrome indicated significant differences related to genotypes. The data indicated that rs11039155 increases metabolic risk, whereas rs2279238 has a protective effect on the overall metabolic risk. The investigation of the PCOS group presented indicates that the combined analyses of variations in putative candidate genes allowed a genotype-phenotype correlation for metabolic features.


PCOS Obesity Lipid metabolism Insulin sensitivity Susceptibility genes 


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Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Birgit Knebel
    • 1
  • Onno E. Janssen
    • 2
  • Susanne Hahn
    • 3
  • Sylvia Jacob
    • 1
  • Ulrike Nitzgen
    • 1
  • Jutta Haas
    • 4
  • Dirk Muller-Wieland
    • 4
  • Jorg Kotzka
    • 1
  1. 1.Institute of Clinical Biochemistry and PathobiochemistryGerman Diabetes Center at the Heinrich-Heine-University Duesseldorf, Leibniz Center for Diabetes ResearchDüsseldorfGermany
  2. 2.Endokrinologikum HamburgHamburgGermany
  3. 3.Medical Practice for EndocrinologyWuppertalGermany
  4. 4.Department of General Internal Medicine Institute for Diabetes ResearchAsklepios Klinik St. Georg, Medical Faculty of Semmelweis UniversityHamburgGermany

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