法属波利尼西亚分化型甲状腺癌的遗传因素:新的候选基因座。

IF 5.1 4区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
Monia Zidane, Marc Haber, Thérèse Truong, Frédérique Rachédi, Catherine Ory, Sylvie Chevillard, Hélène Blanché, Robert Olaso, Anne Boland, Éric Conte, Mojgan Karimi, Yan Ren, Constance Xhaard, Vincent Souchard, Jacques Gardon, Marc Taquet, André Bouville, Jean-François Deleuze, Vladimir Drozdovitch, Florent de Vathaire, Jean-Baptiste Cazier
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引用次数: 0

摘要

背景:1966年至1974年,法国在法属波利尼西亚(FP)进行了大气检测,在那里,分化型甲状腺癌(DTC)的发病率很高。然而,到目前为止,还没有对该人群的DTC遗传因素进行足够大的研究来得出明确的结论。本研究旨在分析本地FP人群中DTC风险的遗传因素。方法:我们分析了283例DTC病例和418例FP匹配对照的30多万个单核苷酸多态性(snp)基因分型,其中大多数在第一次核试验时年龄小于15岁。我们分析了队列的遗传谱,以确定种群亚群。然后我们完成了对整个人群的全基因组分析研究。结果:我们在FP群体中发现了一个特定的遗传结构,反映了亚洲和欧洲人群的混合。我们在6q24.3、10p12.2和17q21.32确定了三个与DTC风险增加相关的区域。这些位点的先导snp的p值分别为1.66 × 10-7、2.39 × 10-7和7.19 × 10-7,比值比分别为2.02、1.89和2.37。结论:我们的研究结果提示基因座6q24.3、10p12.2和17q21.32在DTC风险中起作用。然而,与为白种人设计的微阵列芯片进行基因分型相比,全基因组测序方法更适合表征这些因素。此外,这三个新基因座的功能影响还需要进一步探索和验证。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci.

Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci.

Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci.

Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci.

Background: Populations of French Polynesia (FP), where France performed atmospheric tests between 1966 and 1974, experience a high incidence of differentiated thyroid cancer (DTC). However, up to now, no sufficiently large study of DTC genetic factors in this population has been performed to reach definitive conclusion. This research aimed to analyze the genetic factors of DTC risk among the native FP populations.

Methods: We analyzed more than 300 000 single nucleotide polymorphisms (SNPs) genotyped in 283 DTC cases and 418 matched controls born in FP, most being younger than 15 years old at the time of the first nuclear tests. We analyzed the genetic profile of our cohort to identify population subgroups. We then completed a genome-wide analysis study on the whole population.

Results: We identified a specific genetic structure in the FP population reflecting admixture from Asian and European populations. We identified three regions associated with increased DTC risk at 6q24.3, 10p12.2, and 17q21.32. The lead SNPs at these loci showed respective p-values of 1.66 × 10-7, 2.39 × 10-7, and 7.19 × 10-7 and corresponding odds ratios of 2.02, 1.89, and 2.37.

Conclusion: Our study results suggest a role of the loci 6q24.3, 10p12.2 and 17q21.32 in DTC risk. However, a whole genome sequencing approach would be better suited to characterize these factors than genotyping with microarray chip designed for the Caucasian population. Moreover, the functional impact of these three new loci needs to be further explored and validated.

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来源期刊
Precision Clinical Medicine
Precision Clinical Medicine MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
10.80
自引率
0.00%
发文量
26
审稿时长
5 weeks
期刊介绍: Precision Clinical Medicine (PCM) is an international, peer-reviewed, open access journal that provides timely publication of original research articles, case reports, reviews, editorials, and perspectives across the spectrum of precision medicine. The journal's mission is to deliver new theories, methods, and evidence that enhance disease diagnosis, treatment, prevention, and prognosis, thereby establishing a vital communication platform for clinicians and researchers that has the potential to transform medical practice. PCM encompasses all facets of precision medicine, which involves personalized approaches to diagnosis, treatment, and prevention, tailored to individual patients or patient subgroups based on their unique genetic, phenotypic, or psychosocial profiles. The clinical conditions addressed by the journal include a wide range of areas such as cancer, infectious diseases, inherited diseases, complex diseases, and rare diseases.
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