ヒトのベータ・デフェンシン遺伝子群の複製数が早産に 関連しているのでしょうか?
Catherine James1, Razan Abujaber2, Mona Bajaj-Elliott3
1Research Department of Maternal and Fetal Medicine, Institute for Women's Health, University College London, London, UK; Infection, Immunity, Inflammation and Physiological Medicine, Institute of Child Health, University College London, London, UK.
Lancet (London, England)
|August 28, 2015
まとめ
人間のβ- 防衛素2 (HBD2) レベルに影響を与えるDEFB4A遺伝子のコピー数の変化は,早産のリスクと関連しませんでした. この研究では,妊娠初期におけるDEFB複製数とHBD2濃度との相関は認められなかった.
科学分野:
- 生殖生物学
- 遺伝学
- 免疫学
背景:
- ヒトベータ・デフェンシン (HBD) 発現の増加は早産に関連しています.
- 妊娠前半の血清HBD2は,早産の女性では上昇しています.
- HBD2をコードするDEFB4A遺伝子はコピー数変異を示しています.
研究 の 目的:
- DEFB複製数の変化と早産のリスクとの関連を調査する.
- DEFB複製数が最初の3ヶ月間の血清HBD2値と相関するかどうかを判断する.
主な方法:
- 白人のヨーロッパ人女性 (妊娠11~13週) の遡及的ケース・コントロール研究
- DEFBコピー番号は,パラログ比テストによって決定される.
- 血清HBD2濃度はELISAで測定され,相関とロジスティック回帰を用いて分析された.
主要な成果:
- DEFB複製数と早産との関連は見つかりませんでした.
- DEFB複製数と血清HBD2濃度との間には相関が認められなかった.
- 研究したコホートにおけるHBD2濃度の中央値は761.5pg/ mlであった.
結論:
- DEFB複製数の変動は早産の予測要因ではありません.
- DEFB複製数とHBD2との間の相関の欠如は,規制配列の変動に起因する可能性があります.
- 最初の3ヶ月間のHBD2タンパク質発現は,早産の予測のためのさらなる調査を正当化します.
関連する概念動画
Comparing Copy Number Variations and SNPs
19.3K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.3K
Single Nucleotide Polymorphisms-SNPs
19.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
19.9K
Development of Human Microbiota
37
The human microbiota begins developing at birth and undergoes continual change as we age. Infancy marks a critical period of microbial sensitivity, offering a “window of opportunity” during which beneficial microbes help mature the immune system. By age three, children typically develop a more stable and diverse microbial community. Newborns acquire microbes from their immediate environment; vaginal delivery favors maternal vaginal microbes, while cesarean births favor microbes from...
37
Genome Copying Errors
5.5K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.
5.5K
Genome-wide Association Studies-GWAS
16.7K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
16.7K
Probability Laws
45.1K
Overview
45.1K


