Postgraduate Institute of Medical Education and Research (PGIMER), Advanced Pediatrics Centre, Genetic and Metabolic Unit, Chandigarh, India
Postgraduate Institute of Medical Education and Research (PGIMER), Advanced Pediatrics Centre, Pediatric Endocrinology Unit, Chandigarh, India
J Clin Res Pediatr Endocrinol. 2024 Sep 5;16(3):279-287. doi: 10.4274/jcrpe.galenos.2024.2023-11-7. Epub 2024 Mar 25.
In the hypothalamic-pituitary-gonadotrophin axis, estrogen plays a key role in the regulation of bone maturation and growth plate closure. This study was designed to explore the link between single nucleotide polymorphisms (SNPs) in the estrogen receptor 1 () gene with idiopathic short stature (ISS) susceptibility in a North Indian population.
Four SNPs of (rs543650, rs6557177, rs2234693 and rs9340799) were genotyped by Sanger sequencing in ISS patients and controls. Linkage disequilibrium (LD) and haplotyping were done by SNPStat and SHEsisPlus software. The extent of LD was determined by calculating D’ and R values in SNP paired combinations.
Fifty-two ISS patients were compared with 68 controls. A significant positive association was found between rs6557177 and rs543650 genotype and ISS susceptibility. The frequencies of the rs6557177 CC genotype [p=0.030; odds ratio (OR)=0.13; 95% confidence interval (CI): 0.01-1.10] and rs543650 genotype TT (p=0.043; OR=0.29; 95% CI: 0.09-0.92) were increased in the ISS group compared with controls. However, no significant correlation was observed between clinical parameters of patients and these SNPs. rs543650 showed strong LD with rs2234693 and rs9340799, similarly rs2234693 and rs9340799.
Our study showed that the CC genotype at rs6557177 and TT genotype at rs543650 of constituted a risk factor for developing ISS in North Indian children. These findings may lead to a better understanding of the SNPs associated with ISS susceptibility.
在下丘脑-垂体-性腺轴中，雌激素在调节骨成熟和生长板闭合方面起着关键作用。本研究旨在探讨印度北部人群雌激素受体 1 () 基因中的单核苷酸多态性 (SNP) 与特发性身材矮小 (ISS) 易感性之间的联系。
通过 Sanger 测序对 ISS 患者和对照组中的 4 个 SNP(rs543650、rs6557177、rs2234693 和 rs9340799)进行基因分型。使用 SNPStat 和 SHEsisPlus 软件进行连锁不平衡 (LD) 和单体型分析。通过 SNP 配对组合计算 D'和 R 值来确定 LD 的程度。
将 52 名 ISS 患者与 68 名对照组进行比较。发现 rs6557177 和 rs543650 基因型与 ISS 易感性呈显著正相关。与对照组相比，ISS 组 rs6557177 CC 基因型的频率[p=0.030；优势比 (OR)=0.13；95%置信区间 (CI)：0.01-1.10]和 rs543650 TT 基因型(p=0.043；OR=0.29；95% CI：0.09-0.92)增加。然而，这些 SNP 与患者的临床参数之间没有观察到显著相关性。rs543650 与 rs2234693 和 rs9340799 显示出很强的 LD，同样 rs2234693 和 rs9340799 也是如此。
本研究表明，印度北部儿童中 rs6557177 的 CC 基因型和 rs543650 的 TT 基因型构成了 ISS 发病的危险因素。这些发现可能有助于更好地了解与 ISS 易感性相关的 SNPs。
