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Introduction <p>Estrogens are crucial in the development and growth of skeletal systems. Estrogen receptor alpha (ESRα) and beta (ESRβ) are crucial regulators of estrogen response. Estrogen receptor genes (<i>ESR1</i> and <i>ESR2</i>) have been extensively studied previously for their association with adolescent idiopathic scoliosis (AIS). However, no such study of these genes has been conducted in the North-West Indian population. Therefore, this study represents the first attempt to investigate whether these genes are associated with the development of AIS in this population.</p> Methodology <p>In this study, 613 individuals (113 AIS cases, 500 controls) from North-West India were recruited. A total of 116 single nucleotide polymorphisms (SNPs) in these candidate genes (94 SNPs of <i>ESR1</i> and 22 SNPs of <i>ESR2</i>) were analysed for their association with AIS. The associated variants were in silico analysed for their functional potential.</p> Results <p>Six new variants (rs2179922, rs1361024, rs60591437, rs6557164, rs58272846, rs3020418) of <i>ESR1</i> were significantly associated with AIS after Bonferroni correction at a threshold of <i>p</i>-value = 0.0004. The variant rs2179922 of the <i>ESR1</i> was most strongly associated [odds ratio (O.R.) = 2.023 (95% CI of 1.472–2.779), <i>p</i>-value = 1.08 × 10<sup>− 5</sup>] with AIS. These variants were not in linkage disequilibrium (LD) with earlier reported <i>ESR1</i> variants (rs9340799 and rs2234693). In silico analysis of these six variants of <i>ESR1</i> revealed that the variant rs6557164 had more regulatory potential than the others. However, none of the variants in the <i>ESR2</i> were found associated with AIS after Bonferroni correction.</p> Conclusion <p>The study replicates the association of the <i>ESR1</i> as a susceptibility candidate gene in the North-West Indian population. However, the variants found associated in this study were different from the earlier reported variants. Further, the absence of association of <i>ESR2</i> variants in the present study indicates genetic heterogeneity in AIS susceptibility in the North-West Indian population.</p>

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ESR1 as a candidate gene for adolescent idiopathic scoliosis pathogenesis in North-West Indian population

  • 期刊论文

  • 发表日期：

    2026年6月14日

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  • Shipra Kowra,
  • Hemender Singh,
  • Vinod Singh,
  • Ekta Rai,
  • Swarkar Sharma

摘要

Introduction

Estrogens are crucial in the development and growth of skeletal systems. Estrogen receptor alpha (ESRα) and beta (ESRβ) are crucial regulators of estrogen response. Estrogen receptor genes (ESR1 and ESR2) have been extensively studied previously for their association with adolescent idiopathic scoliosis (AIS). However, no such study of these genes has been conducted in the North-West Indian population. Therefore, this study represents the first attempt to investigate whether these genes are associated with the development of AIS in this population.

Methodology

In this study, 613 individuals (113 AIS cases, 500 controls) from North-West India were recruited. A total of 116 single nucleotide polymorphisms (SNPs) in these candidate genes (94 SNPs of ESR1 and 22 SNPs of ESR2) were analysed for their association with AIS. The associated variants were in silico analysed for their functional potential.

Results

Six new variants (rs2179922, rs1361024, rs60591437, rs6557164, rs58272846, rs3020418) of ESR1 were significantly associated with AIS after Bonferroni correction at a threshold of p-value = 0.0004. The variant rs2179922 of the ESR1 was most strongly associated [odds ratio (O.R.) = 2.023 (95% CI of 1.472–2.779), p-value = 1.08 × 10− 5] with AIS. These variants were not in linkage disequilibrium (LD) with earlier reported ESR1 variants (rs9340799 and rs2234693). In silico analysis of these six variants of ESR1 revealed that the variant rs6557164 had more regulatory potential than the others. However, none of the variants in the ESR2 were found associated with AIS after Bonferroni correction.

Conclusion

The study replicates the association of the ESR1 as a susceptibility candidate gene in the North-West Indian population. However, the variants found associated in this study were different from the earlier reported variants. Further, the absence of association of ESR2 variants in the present study indicates genetic heterogeneity in AIS susceptibility in the North-West Indian population.