样本编号 SAMC1844298
外部数据库编号 GSA-Human: HRS278036
样品名称 Control-1623
样本标题 Mitochondrial DNA sequence in peripheral blood of health people
样品类型 Human sample
物种名称 Homo sapiens
描述信息 To investigate the relationship between polycystic ovary syndrome and mitochondrial alteration.
样本属性 *该样本包含更多受控访问信息,请通过GSA-Human系统申请项目HRA001248数据获取。
发布日期 2021-09-23
项目编号 PRJCA005803
提交者 Dongmei  Ji  (cahsxjdm@aliyun.com)
提交单位 The First Affiliated Hospital of Anhui Medical University
提交日期 2023-06-18

样本包含数据信息

资源名称 描述
GSA-Human (1) -
HRA001248  (Controlled Access) Polymorphisms in mitochondrial DNA (mtDNA) have been linked to a range of diseases. Here we investigate the relationship between mtDNA D-loop region polymorphisms, mtDNA haplotype and polycystic ovary syndrome (PCOS), as well as the correlation of D-loop variants and clinical characteristics of PCOS, in a Chinese population. The mtDNA D-loop of whole blood samples from 421 PCOS patients and 409 controls underwent next generation sequencing. The variants G207A, 16036GGins and 16049Gins were associated with decreased risk of PCOS. No variants were associated with PCOS, and within the PCOS group, no statistical significance was found between D-loop polymorphisms and clinical characteristics. Patient haplotype was identified from D-loop single nucleotide polymorphisms and analysis suggested that haplotype A15 was significantly associated with decreased risk of PCOS. In conclusion, mtDNA D-loop alterations and haplotype appear to confer resistance to PCOS in Chinese women.
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