Influence of prominent immunomodulatory cytokines TNF‐α308 G>A (rs1800629) and TGFβ1 G>C (rs1800471) sequence variations as an important contributing factor in etiopathogenesis of recurrent miscarriages in Kashmiri women (North India)

• Published in: The journal of obstetrics and gynaecology research 2021-05, Vol.47 (5), p.1686-1693
• Main Authors: Manzoor, Usma, Pandith, Arshad A., Amin, Ina, Wani, Saima, Sanadhya, Dheera, Ahmad, Abida, Qasim, Iqbal, Rashid, Masarat, Anwar, Iqra, Koul, Aabid
• Format: Article
• Language: English
• Subjects: Abortion, Habitual - genetics; Case-Control Studies; consanguineous population; Cytokines; Female; Gene Frequency; Gene polymorphism; Genetic diversity; Genetic Predisposition to Disease; Genotype; Genotype & phenotype; Humans; Immunomodulation; India; Kashmir; Miscarriage; Polymerase chain reaction; Polymorphism, Single Nucleotide; Population studies; Pregnancy; product of conception; recurrent miscarriages; Restriction fragment length polymorphism; Transforming Growth Factor beta1 - genetics; Transforming growth factor-b; Transforming growth factor-b1; Tumor necrosis factor; Tumor Necrosis Factor-alpha - genetics; Tumor necrosis factor-TNF
• ISSN: 1341-8076; 1447-0756
• DOI: 10.1111/jog.14718

Aim We aimed to evaluate the genetic variation of tumor necrosis factor‐α (TNF‐α) 308 G>A (rs1800629) and transforming growth factor (TGF) β1G>C (rs1800471) to confer risk in patients with recurrent miscarriage in highly consanguineous population of Kashmir (North India). Methods A total of 200 women who experienced two or more recurrent miscarriages (along with 100 spouses, 60 products of conception, and 240 healthy controls) with two or more full‐term pregnancies were recruited from the same geographical region and evaluated by polymerase chain reaction‐restriction fragment length polymorphism method. Results TNF‐α 308 G>A variant genotype (AA) was significantly associated with recurrent miscarriage cases (2.5% vs. 0.4% controls, respectively; p