Balkan Journal of Medical Genetics

INCREASED FREQUENCY OF MEFV GENES IN PATIENTS WITH EPIGASTRIC PAIN SYNDROME
Coskun BD1, Kiraz A2, Sevinc E1, Baspinar O3, Cakmak E4
*Corresponding Author: Banu D. Coskun, M.D., Kicikapı Mahallesi Hoca Ahmet Yesevi Cad Hidayet Eraslan sitesi B Blok No: 12, Talas/Kayseri Turkey. Tel: +90-506-323-24-86. Fax: +90-352-437-52-73. E-mail: demetcoskun2@gmail.com
page: 51

MATERIALS AND METHODS

This study was performed at the Department of Gastroenterology, Kayseri Training and Research Hospital, Kayseri, Turkey, between January 2014 and December 2015. The study protocol was permitted by the local ethics committee of Cumhuriyet University, Sivas, Turkey. Written informed consent was obtained from all of the participants. Patients. A total of 75 patients aged between 18 and 65 years, who were diagnosed with therapy-resistant EPS, were included in this study. Patients were diagnosed according to the Rome III criteria (Table 1) [3]. Therapyresistant EPS was defined as persistent epigastric pain despite a minimum 4 weeks of acid suppression, procinetics and HP eradication therapy [5]. All examinations of patients, including upper gastrointestinal endoscopy, abdominal ultrasonography, whole blood count and biochemical analyses (renal and liver function), were normal within 3 months of the study. Exclusion criteria were as follows: presence of ulcer or erosion in the upper gastrointestinal system endoscopy, patients who had gastroesophageal reflux symptoms or irritable bowel syndrome, inflammatory bowel disease, pancreaticobiliary tract disease, use of non steroidal anti-inflammatory drugs or alcohol, presence of malignancy (stomach/pancreatic cancer), previous abdominal surgery, other severe systemic disease (e.g., heart, liver, lung and kidney), presence of psychoactive disorders (e.g., anxiety and depression), pregnancy. The control group consisted of 20 healthy age- and sex-matched subjects without any systemic illness such as diabetes mellitus, renal failure, pulmonary/heart disease and chronic inflammatory diseases. All patients and healthy controls were Turkish residents of Central Anatolia. Table 2 shows demographic and clinical findings in the EPS patients and control group. Methods. To investigate the diagnosis of FMF in patients with therapy-resistant EPS, Tel-Hashomer criteria (recurrent fever attacks, abdominal pain, chest pain, arth-ralgia and erysipelas-like erythema), familial history of FMF and the presence of other autoimmune diseases, were recorded [10]. All patients and healthy controls were referred for genetic testing. Other laboratory findings (complete blood count, biochemical and urinary analyses), sedimentation and C-reactive protein were obtained from hospital records. For FMF gene mutation analysis, genomic DNA was extracted from peripheral blood leukocytes using the QIAamp blood kit (Qiagen GmbH, Hilden, Germany). A dideoxy sequencing method was used in this study. To perform mutational analysis, amplified polymerase chain reaction (PCR) products were purified by USB ExoSAP-IT (Affymetrix, Cleveland, OH, USA) and subjected to bidirectional sequencing (BigDye Terminator, version 3.1, Applied Biosystems Inc., Foster City, CA, USA) and further processed on Performa DTR Gel Filtration columns (Edge Biosystems, San Jose, CA, USA). The sequencing products were analyzed on an ABI PRISM™ 3500 genetic analyzer (Applied Biosystems Inc.). We performed sequencing in the forward and reverse directions. Statistical Analyses. Data were analyzed using the Statistical Package for the Social Sciences (SPSS) version 16.0) (SPSS Inc., Chicago, IL, USA). Descriptive statistics [e.g., mean and standard deviation (SD)] for normally distributed data were calculated for quantitative parameters. Qualitative data were summarized as frequency and percentage. The χ2 and unpaired t-student tests were used to compare EPS patients with and without MEFV gene mutations. A p value of <0.05 was considered statistically significant in all analyses.

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