整个外体宽度协会确定了GALNT9的罕见变体,与中东的乳头甲状腺癌风险相关
Rong Bu1, Abdul K Siraj1, Saud Azam1
1Human Cancer Genomic Research, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Cancers
|September 9, 2023
概括
这项研究确定了GALNT9基因是中东人口状甲状腺癌 (PTC) 的潜在危险因素. 需要进一步的研究来了解PTC的遗传原因.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 在瘤学瘤学.
- 人口研究 人口研究
背景情况:
- 乳头甲状腺癌 (PTC) 是最常见的甲状腺癌类型.
- 大多数遗传PTC病例的遗传基础仍然未知.
- 了解遗传起源对于推进PTC研究至关重要.
研究的目的:
- 在与PTC风险相关的编码区域中识别罕见的生殖系变异.
- 调查中东人口中PTC的遗传基础.
主要方法:
- 进行了一项外基因组范围的关联研究 (EWAS).
- 分析了来自249名PTC患者和1395名对照者的外体序列数据.
- 使用了罕见的失活变体 (RIV),罕见的破坏性变体 (RDV) 和序列内核关联测试 (SKAT).
主要成果:
- 在PTC病例中,GALNT9与罕见的失活变体 (RIV) 有着强烈的关联 (OR = 22.75,p = 5.09 × 10−5).
- TRIM40,ARHGAP23和SOX4对罕见的破坏性变体 (RDVs) 进行了丰富 (p <2.5 × 10−6).
- 另外7个基因通过SKAT与中东PTC风险有关.
结论:
- GALNT9和其他已识别的基因可能在PTC倾向中发挥作用.
- 突出了PTC的遗传异质性.
- 强调在PTC遗传研究中需要大规模的合作和新的方法.
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