The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here:

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Leif Groop

Leif Groop

Principal investigator

Leif Groop

Genetic association analysis of LARS2 with type 2 diabetes


  • E. Reiling
  • B. Jafar-Mohammadi
  • E. van't Riet
  • M. N. Weedon
  • J. V. van Vliet-Ostaptchouk
  • T. Hansen
  • R. Saxena
  • T. W. van Haeften
  • P. A. Arp
  • S. Das
  • G. Nijpels
  • M. J. Groenewoud
  • E. C. van Hove
  • A. G. Uitterlinden
  • J. W. A. Smit
  • A. D. Morris
  • A. S. F. Doney
  • C. N. A. Palmer
  • C. Guiducci
  • A. T. Hattersley
  • T. M. Frayling
  • O. Pedersen
  • P. E. Slagboom
  • D. M. Altshuler
  • Leif Groop
  • J. A. Romijn
  • J. A. Maassen
  • M. H. Hofker
  • J. M. Dekker
  • M. I. McCarthy
  • L. M. 't Hart

Summary, in English

LARS2 has been previously identified as a potential type 2 diabetes susceptibility gene through the low-frequency H324Q (rs71645922) variant (minor allele frequency [MAF] 3.0%). However, this association did not achieve genome-wide levels of significance. The aim of this study was to establish the true contribution of this variant and common variants in LARS2 (MAF > 5%) to type 2 diabetes risk. We combined genome-wide association data (n = 10,128) from the DIAGRAM consortium with independent data derived from a tagging single nucleotide polymorphism (SNP) approach in Dutch individuals (n = 999) and took forward two SNPs of interest to replication in up to 11,163 Dutch participants (rs17637703 and rs952621). In addition, because inspection of genome-wide association study data identified a cluster of low-frequency variants with evidence of type 2 diabetes association, we attempted replication of rs9825041 (a proxy for this group) and the previously identified H324Q variant in up to 35,715 participants of European descent. No association between the common SNPs in LARS2 and type 2 diabetes was found. Our replication studies for the two low-frequency variants, rs9825041 and H324Q, failed to confirm an association with type 2 diabetes in Dutch, Scandinavian and UK samples (OR 1.03 [95% CI 0.95-1.12], p = 0.45, n = 31,962 and OR 0.99 [0.90-1.08], p = 0.78, n = 35,715 respectively). In this study, the largest study examining the role of sequence variants in LARS2 in type 2 diabetes susceptibility, we found no evidence to support previous data indicating a role in type 2 diabetes susceptibility.


  • Genomics, Diabetes and Endocrinology
  • EXODIAB: Excellence of Diabetes Research in Sweden

Publishing year












Document type

Journal article




  • Endocrinology and Diabetes


  • Type 2 diabetes
  • SNP
  • Mitochondria
  • Genetics
  • LARS2



Research group

  • Genomics, Diabetes and Endocrinology


  • ISSN: 1432-0428