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Genetic variants associated with spontaneous preterm birth in women from India: a prospective cohort study by Esha Bhattacharjee; Ramachandran Thiruvengadam; Ayushi; Chitrarpita Das; Vineeta Bal; Vineeta Bal; Shinjini Bhatnagar; Bhabatosh Das; Bapu Koundinya Desiraju; Pallavi Kshetrapal; Sumit Misra; Uma Chandra Mouli Natchu; Satyajit Rath; Kanika Sachdeva; Dharmendra Sharma; Amanpreet Singh; Shailaja Sopory; Ramachandran Thiruvengadam; Nitya Wadhwa; Arindam Maitra; Partha P. Majumder; Tushar K. Maiti; Monika Bahl; Shubra Bansal; Umesh Mehta; Sunita Sharma; Brahmdeep Sindhu; Sugandha Arya; Rekha Bharti; Harish Chellani; Pratima Mittal; Anju Garg; Siddharth Ramji; Ashok Khurana; Reva Tripathi; Yashdeep Gupta; Smriti Hari; Nikhil Tandon; Rakesh Gupta; Dinakar M. Salunke; Balakrish G. Nair; Gagandeep Kang; Nitya Wadhwa; Uma Chandra Mouli Natchu; Pallavi Kshetrapal; Shinjini Bhatnagar; Partha Pratim Majumder; Arindam Maitra is a Medicine article available to read on EtoBox.

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## Summary ## Background Despite having the highest number of preterm births globally, no genomic study on preterm birth was previously published from India or other South-Asian countries. ## Methods We conducted a genome-wide association (GWA) study of spontaneous preterm birth (sPTB) on 6211 women from India. We used a novel resampling procedure to identify the associated single nucleotide polymorphisms (SNPs) followed by haplotype association analysis and imputation. ## Findings We found that 512 maternal SNPs were associated with sPTB (__p__ < 2.51e-3), of which minor allele at 19 SNPs (after Bonferroni correction) had increased genotype relative risk. Haplotypes containing six of the 19 SNPs (rs13011430, rs8179838, rs2327290, rs4798499, rs7629800, and rs13180906) were associated with sPTB (__p__ < 9.9e-4; Bonferroni adjusted __p__-value <0.05). After imputation in regions around the 19 SNPs, 15 imputed SNPs were found to be associated with sPTB (Bonferroni adjusted __p__-value <0.05). One of these imputed SNPs, rs35760881, and three other SNPs (rs17307697, rs4308815, and rs10983507) were also reported to be associated with sPTB in women belonging to European ancestry. Moreover

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Author

Esha Bhattacharjee; Ramachandran Thiruvengadam; Ayushi; Chitrarpita Das; Vineeta Bal; Vineeta Bal; Shinjini Bhatnagar; Bhabatosh Das; Bapu Koundinya Desiraju; Pallavi Kshetrapal; Sumit Misra; Uma Chandra Mouli Natchu; Satyajit Rath; Kanika Sachdeva; Dharmendra Sharma; Amanpreet Singh; Shailaja Sopory; Ramachandran Thiruvengadam; Nitya Wadhwa; Arindam Maitra; Partha P. Majumder; Tushar K. Maiti; Monika Bahl; Shubra Bansal; Umesh Mehta; Sunita Sharma; Brahmdeep Sindhu; Sugandha Arya; Rekha Bharti; Harish Chellani; Pratima Mittal; Anju Garg; Siddharth Ramji; Ashok Khurana; Reva Tripathi; Yashdeep Gupta; Smriti Hari; Nikhil Tandon; Rakesh Gupta; Dinakar M. Salunke; Balakrish G. Nair; Gagandeep Kang; Nitya Wadhwa; Uma Chandra Mouli Natchu; Pallavi Kshetrapal; Shinjini Bhatnagar; Partha Pratim Majumder; Arindam Maitra

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Medicine (Health Sciences)