The study was published in the Lancet Regional Health-South East Asia journal
In the Garbh-Ini programme, an interdisciplinary group for advanced research on birth outcomes, Indian researchers have discovered 19 single nucleotide polymorphisms (SNPs), or genetic markers, that have been found to be associated with preterm â€” or premature â€” birth. This is the first time this has been done in South Asia.
Five of these SNPs were identified in the study, and were found to “confer increased risk of early preterm birth (birth before 33 weeks)” and to be able to predict preterm deliveries.
The study is important because preterm birth is the leading cause of problems and infant mortality worldwide. Preterm births are those that occur before 37 full weeks of pregnancy.According to the study, of all babies born annually in India, about 13% are born preterm, accounting for 23.4% of preterm births worldwide.
How the research was done
The scientists genotyped 7,00,604 single SNP markers in 6,211 pregnant women as part of the study and then monitored them till delivery. They contrasted the genome-wide genotypes of the 1,042 women who gave birth at term with those of the 521 women in this cohort who delivered preterm.
The research stated that pregnant women who participated “in a large single-centre prospective cohort” in Haryana between May 2015 and April 2021 were followed up with written informed consent up until six months after delivery.
The institutional review boards and ethical committees of Gurugram Civil Hospital gave their approval to this study. At this hospital, the pregnant women were registered. The biospecimens were kept in storage and the DNA was taken at the Translational Health Science and Technology Institute. And the genotyping and analysis were carried out by the National Institute of Biomedical Genomics.
The 6,211 women from Haryana who participated in the study’s “genome-wide association study (GWAS)” on spontaneous preterm birth were used.
An initiative under the Department of Biotechnology, Garbh-Ini is an interdepartmental program that is jointly run by the Translational Health Science and Technology Institute (THSTI), the NCR Biotech cluster in Faridabad, and the Regional Centre for Biotechnology (RCB), the Gurugram Civil Hospital, among other institutions.
The collaborative researchers at NIBMG who are examining the genetic and epigenomic causes of preterm birth in this cohort undertook the GWAS.
Findings of the study
According to the team, these SNPs are known to control vital biological processes as inflammation, apoptosis, cervical ripening, telomere maintenance, selenocysteine biosynthesis, myometrial contraction, and innate immunity. The team matched these SNPs to information from studies conducted in Europe and the US and discovered that they, too, had the same SNPs.
Thus, these genetic markers may be universal, although further research into these trans-ethnic SNPs is necessary. Naturally, more research into different demographic sources is required before this can be conclusively proven.
The risk of PTB, it was stated, is influenced by the environment as well as maternal and fetal genetic variablesâ€¦The increased incidence of sPTB recurrence in mothers raises the possibility of a hereditary predisposition to sPTB. The majority of epidemiological research have demonstrated that the maternal genome has a greater influence on sPTB than the foetal or paternal genomes.
In addition, the study discovered that spontaneous preterm birth (sPTB), the main subtype of preterm birth (PTB), happens “either due to spontaneous early commencement of labor or due to preterm prelabour rupture of membranes.”
The study also discovered four SNPs that were “significantly associated trans-ethnic SNPs” in the sample, which exhibited association in both Indian women and women with European ancestry.
When three other SNP markers, including rs35760881, and data on European women were analyzed, it was discovered that these markers were likewise related to the risk of premature delivery.