Indian scientists find genetic markers associated with premature births

Subject : Science and technology

Section: Biotechnology

What is the research about?

For the first time in South Asia, Indian scientists working in the Garbh-Ini programme, an interdisciplinary group for advanced research on birth outcomes, have identified 19 single nucleotide polymorphisms (SNPs), or genetic markers, that have been found to be associated with preterm — or premature — birth.

Details:

For the study, the Garbh-Ini team undertook a “genome-wide association study (GWAS)’’ on spontaneous preterm birth on 6,211 women from Haryana.
Five of these SNPs have been found to “confer increased risk of early preterm birth (birth before 33 weeks)’’ and can predict premature births.
- The study found that four SNPs found in the cohort were “significantly associated trans-ethnic SNPs”, which showed association both in Indian women as well as in the women belonging to the European ancestral population.
- One of the SNP markers, rs35760881, and three more markers, when compared with data on European women, was found to be also associated with risk of preterm delivery.
- These SNPs are known to regulate important biological processes such as inflammation, apoptosis, cervical ripening, telomere maintenance, selenocysteine biosynthesis, myometrial contraction, and innate immunity,
The study also found that spontaneous preterm birth (sPTB), the major subtype of preterm birth (PTB), occurs “either due to spontaneous early onset of labour or due to preterm prelabour rupture of membranes”.

Significance of the study:

Preterm birth is the largest cause of neonatal deaths and complications globally.
- Preterm births are defined as births before 37 completed weeks of gestation.
Of all babies born annually in India, about 13% are born preterm, accounting for 23.4% of preterm births globally.
When these babies become adults, they also become at higher risk of diseases such as Type-2 diabetes, hypertension and cancer.
When we can predict, through these genetic markers, which women are likely to have preterm births, then these mothers can be monitored closely and triaged.

Garbh-Ini initiative:

Garbh-Iniis an initiative under the Department of Biotechnology (Ministry of Sci & Tech) as a collaborative interdisciplinary programme, led by DBT-Translational Health Science and Technology Institute (THSTI), NCR Biotech cluster, Faridabad, in collaboration with DBT-NIBMG, Kalyani, DBT-Regional Centre for Biotechnology (RCB), Gurugram Civil Hospital and other organisations.
- Objective: To identify clinical, epidemiologic, genomic, epigenomic, proteomic, and microbial correlates; discover molecular-risk markers by using an integrative -omics approach; and generate a risk-prediction algorithm for preterm birth.