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Common variants in MODY genes increase the risk of gestational diabetes mellitus.

  • Nael Shaat
  • Ella Ekholm
  • Åke Lernmark
  • Sten Ivarsson
  • Kristian Lynch
  • Hemang Parikh
  • Peter Almgren
  • Kerstin Berntorp
  • Leif Groop
Publishing year: 2006
Language: English
Pages: 1545-1551
Publication/Series: Diabetologia
Volume: 49
Issue: 7
Document type: Journal article
Publisher: Springer

Abstract english

Aims/hypothesis Impaired beta cell function is the hallmark of gestational diabetes mellitus (GDM) and MODY. In addition, women with MODY gene mutations often present with GDM, but it is not known whether common variants in MODY genes contribute to GDM.

Subjects and methods We genotyped five common variants in the glucokinase (GCK, commonly known as MODY2), hepatocyte nuclear factor 1-α (HNF1A, commonly known as MODY3) and 4-α (HNF4A commonly known as MODY1) genes in 1,880 Scandinavian women (648 women with GDM and 1,232 pregnant non-diabetic control women).

Results The A allele of the GCK −30G→A polymorphism was more common in GDM women than in control subjects (odds ratio [OR] 1.28 [95% CI 1.06−1.53], p=0.008, corrected p value, p=0.035). Under a recessive model [AA vs GA+GG], the OR increased further to 2.12 (95% CI 1.21−3.72, p=0.009). The frequency of the L allele of the HNF1A I27L polymorphism was slightly higher in GDM than in controls (1.16 [95% CI 1.001−1.34], p=0.048, corrected p value, p=0.17). However, the OR increased under a dominant model (LL+IL vs II; 1.31 [95% CI 1.08−1.60], p=0.007). The rs2144908, rs2425637 and rs1885088 variants, which are located downstream of the primary beta cell promoter (P2) of HNF4A, were not associated with GDM.

Conclusions/interpretation The −30G→A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of HNF1A seem to increase the risk of GDM in Scandinavian women.


  • Endocrinology and Diabetes
  • GCK
  • −30G→A
  • GDM
  • Genes
  • Gestationaldiabetes mellitus
  • Glucokinase
  • HNF1A
  • Scandinavian
  • Polymorphism
  • HNF4A
  • I27L
  • MODY


  • Genomics, Diabetes and Endocrinology
  • Diabetes and Celiac Unit
  • Paediatric Endocrinology
  • ISSN: 1432-0428
E-mail: ake [dot] lernmark [at] med [dot] lu [dot] se

Principal investigator

Diabetes and Celiac Unit

+46 40 39 19 01

+46 70 616 47 79


Jan Waldenströms gata 35, Malmö


Lund University Diabetes Centre, CRC, SUS Malmö, Jan Waldenströms gata 35, House 91:12. SE-214 28 Malmö. Telephone: +46 40 39 10 00