CYP19和ESR2的多态性是密码化症的潜在罪祸首
Tubanur Kaya Kurt1, Alev Suzen1, Cilem Ozdemir2
1Muğla Sıtkı Koçman University, Faculty of Medicine, Department of Pediatric Surgery, Muğla, Turkey.
Journal of pediatric urology
|December 28, 2024
概括
在CYP19和ESR2的遗传变异与密码症风险有关. 特定的基因型和等位基因可能会增加敏感性或提供保护,突出显示雌激素途径参与丸下降.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科泌尿外科 儿科泌尿外科
背景情况:
- 密码症或未下降的丸与不孕症和丸癌症风险增加有关.
- 雌激素信号传递对丸下降至关重要,荷尔蒙失衡有助于密码化.
- CYP19 (芳酶) 通过将转化为雌激醇来调节局部雌激素水平,从而影响雌激素受体介导的细胞过程.
研究的目的:
- 调查CYP19 (rs2414096) 和ESR2 (rs4986938) 中的多态性之间的关联以及对密码性敏感性的研究.
- 识别特定的遗传变异,可能会产生风险或保护对密码体的保护.
主要方法:
- 通过PCR-RFLP在形虫儿童 (n=41) 和健康对照 (n=42) 的DNA中对CYP19 (rs2414096) 和ESR2 (rs4986938) 多态的基因定型.
- 统计分析比较病例和对照群之间的基因型和等位基因频率,使用奇平方测试.
主要成果:
- 对于CYP19 (rs2414096) 和ESR2 (rs4986938) 多态的基因型和等位基因频率,在密码症患者和对照者之间观察到显著的差异 (p < 0.05).
- 对CYP19 (rs2414096) 和ESR2 (rs4986938) 的AA基因型和A等位基因可能代表了密码症的危险因素.
- GG基因型和G等位基因可能会对密码体有保护作用.
结论:
- 在CYP19 (rs2414096) 和ESR2 (rs4986938) 中的多态性与密码性易感性显著相关.
- 这些发现提供了基因证据,支持雌激素路径变异在丸下降中的作用.
- 需要对更大的队列和功能性研究进行进一步的研究,以验证这些结果并阐明潜在的机制.
相关概念视频
Sex-linked Disorders
100.3K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
100.3K
The Y Chromosome Determines Maleness
6.5K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
6.5K
Spermatogenesis
102.1K
Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male...
102.1K
X and Y Chromosomes
22.0K
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
22.0K
Infertility in Males
242
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
242
Comparing Copy Number Variations and SNPs
17.2K
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%...
17.2K


