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HABP2基因G534E变异不太可能是家族性非髓样甲状腺癌的病因。

The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer.

作者信息

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

机构信息

Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, USA.

Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultades de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia.

出版信息

J Clin Endocrinol Metab. 2016 Mar 1;10(3):1098-1103. doi: 10.1210/jc.2015-3928. Epub 2015 Dec 21.

Abstract

CONTEXT

A recent study reported the non-synonymous G534E (rs7080536, allele A) variant in the HABP2 gene as causal in familial non-medullary thyroid cancer (NMTC).

OBJECTIVE

The objective of this study was to evaluate the causality of HABP2 G534E in the TCUKIN study, a multi-center population based study of NMTC cases from the British Isles.

DESIGN AND SETTING

A case-control analysis of rs7080536 genotypes was performed using 2,105 TCUKIN cases and 5,172 UK controls.

PARTICIPANTS

Cases comprised 2,105 NMTC cases. Patients sub-groups with papillary (N=1,056), follicular (N=691) and Hurthle cell (N=86) TC cases were studied separately. Controls comprised 5,172 individuals from the 1958 Birth Cohort (58C) and the National Blood Donor Service (NBS) study. The controls had previously been genotyped using genome-wide SNP 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 HABP2 G534E was 4.2% in cases and 4.6% in controls. We did not detect an association between this variant and NMTC risk (OR=0.896, 95% CI: 0.746-1.071, P=0.233). We also failed to detect an association between HABP2 G534E and cases with papillary (1056 cases, G534E frequency= 3.5%, OR=0.74, P=0.017), follicular (691 cases, G534E frequency= 4.7%, OR=1.00, P=1.000) or Hurthle cell (86 cases, G534E frequency= 6.3%, OR=1.40, P=0.279) histology.

CONCLUSIONS

We found that HABP2 G534E is 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.

摘要

背景

最近一项研究报告称,HABP2基因中的非同义G534E(rs7080536,等位基因A)变异是家族性非髓样甲状腺癌(NMTC)的病因。

目的

本研究的目的是在TCUKIN研究中评估HABP2 G534E的因果关系,该研究是一项基于多中心人群的来自不列颠群岛的NMTC病例研究。

设计与背景

对rs7080536基因型进行病例对照分析,使用了2105例TCUKIN病例和5172例英国对照。

参与者

病例包括2105例NMTC病例。分别对乳头状(N = 1056)、滤泡状(N = 691)和许特耳细胞(N = 86)甲状腺癌病例的患者亚组进行了研究。对照包括来自1958年出生队列(58C)和国家献血服务(NBS)研究的5172名个体。这些对照之前已由威康信托病例对照研究联盟使用全基因组SNP阵列进行基因分型。

结果指标

使用逻辑回归评估HABP2 G534E(rs7080536A)与NMTC风险之间的关联。

结果

HABP2 G534E在病例中的频率为4.2%,在对照中的频率为4.6%。我们未检测到该变异与NMTC风险之间的关联(OR = 0.896,95%CI:0.746 - 1.071,P = 0.233)。我们也未检测到HABP2 G534E与乳头状(1056例,G534E频率 = 3.5%,OR = 0.74,P = 0.017)、滤泡状(691例,G534E频率 = 4.7%,OR = 1.00,P = 1.000)或许特耳细胞(86例,G534E频率 = 6.3%,OR = 1.40,P = 0.279)组织学类型的病例之间存在关联。

结论

我们发现HABP2 G534E在不列颠群岛是一种低至中等频率的变异,且未检测到其与NMTC风险存在关联,与组织学类型无关。因此,我们的研究未表明HABP2 G534E或相关多态性与家族性NMTC有关,在将该变异用于NMTC风险评估之前还需要更多数据。

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