The HABP2 G534E variant is an unlikely cause of familial nonmedullary thyroid cancer

Ruta Sahasrabudhe, Jacob Stultz, John Williamson, Paul Lott, Ana Estrada, Mabel Bohorquez, Claire Palles, Guadalupe Polanco-Echeverry, Emma Jaeger, Lynn Martin, Maria Magdalena Echeverry, Luis Carvajal-Carmona

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Context: A recent study reported the nonsynonymous G534E (rs7080536, allele A) variant in the HABP2 gene as causal in familial nonmedullary thyroid cancer (NMTC). Objective: The objective of this study was to evaluate the causality of HABP2 G534E in the TCUKIN study, a multicenter population-based study of NMTC cases from the British Isles. Design and Setting: A case-control analysis of rs7080536 genotypes was performed using 2105 TCUKIN cases and 5172 UK controls. Participants: Cases comprised 2105 NMTC cases. Patient subgroups with papillary (n = 1056), follicular (n=691), and Hürthle cell (n=86) thyroid cancer cases were studied separately. Controls comprised 5172 individuals from the 1958 Birth Cohort and the National Blood Donor Service study. The controls had previously been genotyped using genome-wide single nucleotide polymorphism arrays by the Wellcome Trust Case Control Consortium study. Outcome Measures: Association between HABP2 G534E (rs7080536A) and NMTC risk was evaluated using logistic regression. Results: The frequency of the HABP2 G534E was 4.2% in cases and 4.6% in controls. We did not detect an association between this variant andNMTCrisk (odds ratio [OR]=0.896;95%confidence interval, 0.746-1.071; P=.233).Wealso failed to detect an association between the HABP2 G534E and cases with papillary (1056 cases; G534E frequency = 3.5%; OR = 0.74; P =.017), follicular (691 cases; G534E frequency=4.7%; OR=1.00; P=1.000), or Hürthle cell (86 cases; G534E frequency= 6.3%; OR = 1.40; P =.279) histology. Conclusions:Wefound thatHABP2G534Eis a low-to-moderate frequency variant in the British Isles and failed to detect an association with NMTC risk, independent of histological type. Hence, our study does not implicate HABP2 G534E or a correlated polymorphism in familial NMTC, and additional data are required before using this variant in NMTC risk assessment.

Original languageEnglish (US)
Pages (from-to)1098-1103
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Issue number4
StatePublished - Mar 1 2016

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical


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