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 journalArticle

14 Citations (Scopus)

Abstract

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
Volume101
Issue number4
DOIs
StatePublished - Mar 1 2016

Fingerprint

Thyroid Neoplasms
Odds Ratio
Polymorphism
Genes
Histology
Blood Donors
Causality
Risk assessment
Multicenter Studies
Single Nucleotide Polymorphism
Papillary Thyroid cancer
Logistics
Case-Control Studies
Blood
Nucleotides
Logistic Models
Alleles
Genotype
Outcome Assessment (Health Care)
Parturition

ASJC Scopus subject areas

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

Cite this

The HABP2 G534E variant is an unlikely cause of familial nonmedullary thyroid cancer. / Sahasrabudhe, Ruta; Stultz, Jacob; Williamson, John; Lott, Paul; Estrada, Ana; Bohorquez, Mabel; Palles, Claire; Polanco-Echeverry, Guadalupe; Jaeger, Emma; Martin, Lynn; Echeverry, Maria Magdalena; Carvajal-Carmona, Luis.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 101, No. 4, 01.03.2016, p. 1098-1103.

Research output: Contribution to journalArticle

Sahasrabudhe, R, Stultz, J, Williamson, J, Lott, P, Estrada, A, Bohorquez, M, Palles, C, Polanco-Echeverry, G, Jaeger, E, Martin, L, Echeverry, MM & Carvajal-Carmona, L 2016, 'The HABP2 G534E variant is an unlikely cause of familial nonmedullary thyroid cancer', Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 4, pp. 1098-1103. https://doi.org/10.1210/jc.2015-3928
Sahasrabudhe, Ruta ; Stultz, Jacob ; Williamson, John ; Lott, Paul ; Estrada, Ana ; Bohorquez, Mabel ; Palles, Claire ; Polanco-Echeverry, Guadalupe ; Jaeger, Emma ; Martin, Lynn ; Echeverry, Maria Magdalena ; Carvajal-Carmona, Luis. / The HABP2 G534E variant is an unlikely cause of familial nonmedullary thyroid cancer. In: Journal of Clinical Endocrinology and Metabolism. 2016 ; Vol. 101, No. 4. pp. 1098-1103.
@article{53c972855f4a415884b82c438344b231,
title = "The HABP2 G534E variant is an unlikely cause of familial nonmedullary thyroid cancer",
abstract = "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 H{\"u}rthle 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 H{\"u}rthle 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.",
author = "Ruta Sahasrabudhe and Jacob Stultz and John Williamson and Paul Lott and Ana Estrada and Mabel Bohorquez and Claire Palles and Guadalupe Polanco-Echeverry and Emma Jaeger and Lynn Martin and Echeverry, {Maria Magdalena} and Luis Carvajal-Carmona",
year = "2016",
month = "3",
day = "1",
doi = "10.1210/jc.2015-3928",
language = "English (US)",
volume = "101",
pages = "1098--1103",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "4",

}

TY - JOUR

T1 - The HABP2 G534E variant is an unlikely cause of familial nonmedullary thyroid cancer

AU - Sahasrabudhe, Ruta

AU - Stultz, Jacob

AU - Williamson, John

AU - Lott, Paul

AU - Estrada, Ana

AU - Bohorquez, Mabel

AU - Palles, Claire

AU - Polanco-Echeverry, Guadalupe

AU - Jaeger, Emma

AU - Martin, Lynn

AU - Echeverry, Maria Magdalena

AU - Carvajal-Carmona, Luis

PY - 2016/3/1

Y1 - 2016/3/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84960901490&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84960901490&partnerID=8YFLogxK

U2 - 10.1210/jc.2015-3928

DO - 10.1210/jc.2015-3928

M3 - Article

VL - 101

SP - 1098

EP - 1103

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 4

ER -