Sudhir Neha, Kaur Mandeep, Singh Sukhjashanpreet, Beri Archana, Kaur Tajinder, Kaur Anupam
Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India.
Beri Maternity Hospital, Southend Beri Fertility and IVF, Amritsar, Punjab, India.
J Hum Reprod Sci. 2023 Apr-Jun;16(2):156-165. doi: 10.4103/jhrs.jhrs_43_23. Epub 2023 Jun 30.
Recurrent miscarriage (RM), defined as two or more consecutive miscarriages prior to the 20 week of gestation is characterised by multifactorial aetiology. The prevalence of RM varies from 0.8% to 13.5% amongst women of reproductive age. The aetiological basis of RM has been traced to chromosomal, anatomic, hormonal and immunologic factors while half of the cases remain idiopathic.
This study aimed to investigate the association of interleukin-10 (IL-10) polymorphisms with RM amongst the Indian population.
The present study included a total of 414 individuals including RM women ( = 199) with two or more pregnancy losses and healthy women ( = 215) without any previous history of pregnancy loss were taken as the control group.
Demographic features and reproductive history of women with RM and healthy women were taken. Genotype analysis of IL-10 polymorphisms rs1800872 and rs1800896 was performed using the polymerase chain reaction (PCR) restriction fragment length polymorphism and amplification mutation refractory system PCR, respectively.
Student's -test was used to compare the demographic features and reproductive history amongst both groups. Pearson's Chi-square was used to calculate the Hardy-Weinberg equilibrium, allelic and genotypic frequencies. All the statistical analyses were performed using the SPSS (version 21, IBM SPSS, NY, USA).
Our results suggested that the genotypic and allelic frequency of rs1800872 polymorphism did not differ significantly between RM cases and control women ( = 0.07 and = 0.23, respectively). The GG genotype ( = 0.007) and G allele ( = 0.003) of rs1800896 were significantly associated with an increased risk of RM. A statistically significant difference was also found for the distribution of genetic models (dominant and co-dominant model) between both groups for rs1800896. However, haplotype analysis revealed that none of the haplotypes provides a risk for the progression of RM.
The study is the first of its kind from our region and provides baseline data on the genetics of RM.
复发性流产（RM）定义为妊娠20周前连续发生两次或更多次流产，其病因是多因素的。RM在育龄妇女中的患病率为0.8%至13.5%。RM的病因已追溯到染色体、解剖、激素和免疫因素，而一半的病例仍病因不明。
本研究旨在调查印度人群中白细胞介素-10（IL-10）基因多态性与RM的关联。
本研究共纳入414名个体，其中包括有两次或更多次妊娠丢失的RM女性（n = 199），以及无任何既往妊娠丢失史的健康女性（n = 215）作为对照组。
记录RM女性和健康女性的人口统计学特征和生殖史。分别使用聚合酶链反应（PCR）-限制性片段长度多态性和扩增突变不应性系统PCR对IL-10基因多态性rs1800872和rs1800896进行基因型分析。
采用学生t检验比较两组的人口统计学特征和生殖史。采用Pearson卡方检验计算哈迪-温伯格平衡、等位基因和基因型频率。所有统计分析均使用SPSS（版本21，IBM SPSS，纽约，美国）进行。
我们的结果表明，rs1800872基因多态性的基因型和等位基因频率在RM病例和对照女性之间无显著差异（分别为P = 0.07和P = 0.23）。rs1800896的GG基因型（P = 0.007）和G等位基因（P = 0.003）与RM风险增加显著相关。两组之间rs1800896的遗传模型（显性和共显性模型）分布也存在统计学显著差异。然而，单倍型分析显示，没有一种单倍型会增加RM进展的风险。
本研究是我们地区此类研究中的首例，为RM的遗传学提供了基线数据。
