与印度妇女的自发早产相关的遗传变异:前性队列研究
Esha Bhattacharjee1,2, Ramachandran Thiruvengadam3,4, Ayushi3
1National Institute of Biomedical Genomics, PO: NSS, Kalyani, India.
The Lancet regional health. Southeast Asia
|July 26, 2023
概括
这项研究确定了与印度的自发早产 (sPTB) 相关的母体遗传标记,这是南亚首个这样的全基因组研究. 这些发现可能有助于识别不同人群中的危险怀孕.
科学领域:
- 遗传学 是一个遗传学.
- 生殖健康 生殖健康
- 基因组学就是基因组学.
背景情况:
- 印度是全球早产儿负担最高的国家.
- 对于印度或南亚,以前没有关于早产的基因组研究.
研究的目的:
- 在印度妇女中进行第一个自发早产 (sPTB) 的全基因组关联研究.
- 识别与sPTB相关的母性单核酸多态 (SNP).
主要方法:
- 在6211名印度妇女身上进行全基因组关联研究 (GWA).
- 对于SNP识别的新型重新抽样程序.
- 哈普洛型关联分析和归算.
主要成果:
- 有512名与sPTB相关的母亲SNP (p <2.51e-3).
- 19个SNP在Bonferroni校正后显示基因型相对风险增加.
- 六个SNP形成了一个与sPTB有显著关联的单元型.
- 15个归算的SNP和4个SNP (rs35760881,rs17307697,rs4308815,rs10983507) 显示了与sPTB的跨民族关联.
- 在rs1152954的GG基因型与增加的sPTB风险和缩短的端粒长度有关.
结论:
- 首次在南亚发现与sPTB相关的母性SNP的全基因组鉴定.
- 已识别的SNP对关键sPTB通路中的基因产生影响 (炎症,亡,宫成熟,端粒维护等). ) 的情况.
- 跨民族SNP协会可能有助于全球人口的风险分层.
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