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与印度女性控制性卵巢刺激反应不良相关的高危基因型

High-Risk Genotypes Associated with Poor Response to Controlled Ovarian Stimulation in Indian Women.

作者信息

Udumudi Anuradha, Lava K Chaitra, Hegde Vandana

机构信息

GeneTech, Hyderabad, Telangana, India.

Hegde Fertility, Hyderabad, Telangana, India.

出版信息

J Hum Reprod Sci. 2023 Jan-Mar;16(1):70-78. doi: 10.4103/jhrs.jhrs_2_23.

Abstract

BACKGROUND

Infertility is a global burden and has become exceedingly common in the preceding years; controlled ovarian stimulation (COS) is a pre-requisite for couples opting to conceive via fertilisation (IVF). Based on the number of oocytes retrieved upon COS, a patient may be classified as a good responder or poor responder. The genetic aspect of response to COS has not been elucidated in the Indian population.

AIMS

This study aimed to establish a genomic basis for COS in IVF in the Indian population and to understand its predictive value.

SETTINGS AND DESIGN

The patient samples were collected at both Hegde Fertility Centre and GeneTech laboratory. The test was carried out at GeneTech, a diagnostic research laboratory based in Hyderabad, India. Patients with infertility without any history of polycystic ovary syndrome and hypogonadotropic hypogonadism were included in the study. Detailed clinical, medical and family history was obtained from patients. The controls had no history of secondary infertility or pregnancy losses.

MATERIALS AND METHODS

A total of 312 females were included in the study comprising 212 women with infertility and 100 controls. Next-generation sequencing technology was employed to sequence multiple genes associated with response to COS.

STATISTICAL ANALYSIS USED

Statistical analysis using odds ratio was carried out to understand the significance of the results obtained.

RESULTS

Strong association of c.146G>T of , c.622-6C>T of , c.453-397T>C and c.975G>C of , c.2039G>A of and c.161+4491T>C of with infertility and response to COS was established. Further, combined risk analysis was carried out to establish a predictive risk factor for patients with a combination of the genotypes of interest and biochemical parameters commonly considered during IVF procedures.

CONCLUSION

This study has enabled the identification of potential markers pertaining to response to COS in the Indian population.

摘要

背景

不孕症是一项全球性负担,且在过去几年中变得极为普遍;对于选择通过体外受精(IVF)受孕的夫妇而言,控制性卵巢刺激(COS)是一项先决条件。根据COS时获取的卵母细胞数量,患者可被分类为高反应者或低反应者。在印度人群中,对COS反应的遗传方面尚未阐明。

目的

本研究旨在为印度人群IVF中的COS建立基因组基础,并了解其预测价值。

设置与设计

患者样本在Hegde生育中心和基因技术实验室采集。检测在位于印度海得拉巴的诊断研究实验室基因技术公司进行。本研究纳入了无多囊卵巢综合征和低促性腺激素性性腺功能减退病史的不孕症患者。从患者处获取了详细的临床、医学和家族史。对照组无继发性不孕或流产史。

材料与方法

本研究共纳入312名女性,其中包括212名不孕症女性和100名对照。采用下一代测序技术对与COS反应相关的多个基因进行测序。

所用统计分析

采用比值比进行统计分析以了解所得结果的意义。

结果

确定了[具体基因1]的c.146G>T、[具体基因2]的c.622-6C>T、[具体基因3]的c.453-397T>C和c.975G>C、[具体基因4]的c.2039G>A以及[具体基因5]的c.161+4491T>C与不孕症及COS反应之间的强关联。此外,进行了联合风险分析以建立具有感兴趣的基因型组合及IVF程序中通常考虑的生化参数的患者的预测风险因素。

结论

本研究已能够鉴定出印度人群中与COS反应相关的潜在标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dafd/10256945/79e45c3a7c2c/JHRS-16-70-g001.jpg

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