International Research Journal of Public and Environmental Health Vol.5 (1),pp. 8-12, January 2018 Available online at https://www.journalissues.org/IRJPEH/ https://doi.org/10.15739/irjpeh.18.002 Copyright © 2018 Author(s) retain the copyright of this article ISSN 2360-8803 Original Research Article The role of obesity in JAK2 V617F gene mutation among patients with recurrent pregnancy loss Received 4 November, 2017 Revised 14 December, 2017 Accepted 18 December, 2017 Published 31 January, 2018 Hala Awadallah* 1 , Mai Shaker 2 , Khaled Gaber 2 , and Khalda Amr 3 1 Institute of Environmental Studies and Reasearch Ain Shams University,Egypt. 2 Prenatal Diagnosis and Fetal Medicine Department National Research Centre, Medical Molecular Genetics department National Research Centre, Egypt. 3 Prenatal Diagnosis and Fetal Medicine Department National research Centre *Corresponding Author Email: hala_awadalla@yahoo.com Maternal obesity is one of the factors that have a role in recurrent pregnancy loss (RPL). This research deals with fetal loss in obese pregnant women that might be due the mutation in Janus kinase2 gene (V617F). The main purpose of this article is to explore the association of obesity with JAK2 V617F mutation in recurrent pregnancy loss. This study is carried out on 250 women, the case group with a history of recurrent pregnancy loss and a body mass index (BMI) >24.9kg/m 2 . Control group consists of women with normal body mass index and have at least one live child and with no history of pregnancy loss. All subjects were investigated for the mutations by using the allele-specific multiplex PCR. Women in the study who were obese and tested positive for JAK2 V617F were 14 %. 9.3% of patients in the case had a BMI with mean of 30.9 ±4.3. In conclusion the study suggests a correlation between the increased risk for the occurrence of RPL in obese women and the investigated V617F mutation in the Jak2 gene exon 12, this research demonstrates the feasibility that obesity could be a modifiable risk factor for that somatic mutation. Key words: RPL, Obesity, Gene (V617F) INTRODUCTION Recurrent pregnancy loss (RPL) was defined as two or more miscarriages. Antiphospholipid syndrome, uterine anomalies, and parental chromosomal abnormalities, particularly translocation and abnormal embryonic karyotype, are identifiable causes of RPL (Sugiura- Ogasawara, 2015) About 1–3% of women suffer from this medical condition during their reproductive period (Toth et al., 2010). Until know up to 50% of RPL cases the definite underlying cause or pathophysiological mechanisms is still not determined (Karvela et al., 2008). There is a bad outcome that affects the mother and the offspring due to pre pregnancy maternal obesity for example diabetes, preeclampsia and thrombophlic disorders. Off spring of obese mothers are more liable to face difficulties during birth, macrosomia, and prenatal death (Nuthalapaty and Rouse, 2004). Gene mutations can be turned on by any change in the home environment and also the external environment in which human grow (Lobo, 2008). Many hormones depend on their mechanisms on Jinas Kinas, JAK-signal transducers and activators of transcription STAT which greatly affects fat cell function. In Obesity leptin and IL-6 increase in obese women continually activating intracellular JAK-STA3. Leptin works mainly on central nervous system, IL-6 works on peripheral organs and in fact they can switch targets. Continuous JAK-STAT3 activation by leptin and IL-6 lead to the increased expression of the negative regulator SOCS3. SOCS3 in then have a negative feedback on leptin and IL-6 signaling regulating it plus antagonizing insulin action which leads to gaining more weight and insulin resistance (Wunderlich et al., 2013). JAK2 is a tyrosine kinase which has a main role in signal