Türk hastalarda fibromiyalji sendromu ile MTHFR C677T genotip arasındaki ilişki

Year 2020, , 235 - 239, 01.03.2020

Emine Dundar Ahi , Sevgi Ikbali Afsar , Seyhan Sözay Yaprak Yalçın Hatice Pınar Baysan Çebi

https://doi.org/10.28982/josam.651013

Abstract

Amaç: Fibromiyalji sendromu (FMS); etiyolojisi belli olmayan, yaygın vücut ağrıları ve hassas noktalar ile karakterize bir hastalıktır. Oluşumunda pek çok mekanizma öne sürülmüş olup bunlardan biri de kalıtsal mekanizmadır. Hastalığa, en sık depresyon olmak üzere çeşitli ruhsal bozuklukların eşlik ettiği bilinmektedir. Metilentetrahidrofolat redüktaz (MTHFR) gen polimorfizmiyle de depresyon, anksiyete, bipolar bozukluk ve şizofreni gibi psikiyatrik hastalıklar ilişkili bulunmuştur. Bu bilgilerden yola çıkarak FMS tanılı hastalarda etyolojik açıdan MTHFR geni C677T genotipi ve allel sıklığını ve bu genotip ile fibromiyalji kliniği arasındaki olası ilişkiyi belirlemeyi amaçladık.
Yöntemler: Vaka-kontrol çalışmamıza 1990 American College of Rheumatology sınıflama kirterlerine göre tanı konmuş 100 FMS tanılı hasta dahil edildi. Kontrol grubuna ise aynı cinsiyet ve yaş aralığında 100 sağlıklı gönüllü dahil edildi. Katılımcılardan elde edilen periferal kan lökositlerinden genomik DNA ekstrakte edildi ve gerçek zamanlı polimeraz zincir reaksiyonu kullanılarak MTHFR C677T mutasyon tespiti yapıldı. FMS hastalık fonksiyonel durumu Fibromiyalji Etki Anketi (FEA) ve depresyon varlığı Beck Depresyon Envanteri (BDE) ile belirlendi.
Bulgular: Çalışmaya alınan 100 FMS tanılı hasta ve 100 kontrol grubunun hepsi kadındı. Çalışmamızda FMS’lu 100 hastanın 42’sinde (%42) depresyon saptandı. Yapılan istatistiki değerlendirmeler sonucu C allelini taşıyanların T allelini taşıyanlara göre hastalığa yakalanma olasılığı 2,111 kat daha fazla olarak hesaplandı (P<0,001). Hasta grubunda MTHFR geni C677T genotipi polimorfizmi dağılımı ile FEA ve BDE skorları arasında herhangi bir ilişki bulunamadı.
Sonuç: Çalışmamıza göre MTHFR C677T varyantının varlığının FMS'ye karşı koruyucu olduğunu bulundu. Bu sonuçlara dayanarak, MTHFR'nin nadir görülen polimorfizm tiplerinde kapsamlı çalışmalar yapılmalıdır.

Keywords

Fibromiyalji sendromu, Metilentetrahidrofolat redüktaz geni, C677T mutasyonu, Depresyon

Supporting Institution

başkent üniversitesi tıp ve sağlık bilimleri araştırma kurulu

Project Number

KA12/274

Association between fibromyalgia syndrome and MTHFR C677T genotype in Turkish patients

Abstract

Aim: Fibromyalgia syndrome (FMS) is characterized by widespread musculoskeletal pain and tender points. Among the several suggested mechanisms, most reports strongly emphasize the importance of the molecular mechanisms. It is known that the disorder is accompanied by various mental disorders, the most common being depression. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism was also associated with psychiatric disorders such as depression, anxiety, bipolar disorder and schizophrenia. This study aimed to evaluate the association between C677T genotype of methylenetetrahydrofolate reductase (MTHFR) gene, FMS risk and symptom severity in Turkish patients.
Methods: One hundred (n=100) patients with FMS diagnosed according to the 1990 American College of Rheumatology Classification Criteria were included in our case-control study. Control group consisted of 100 patients of similar age and gender. Genomic DNA was extracted from peripheral blood leukocytes obtained from the participants and MTHFR C677T mutation was detected with real-time polymerase chain reaction. FMS disease activity was evaluated by Fibromyalgia Impact Questionnaire (FIQ) and presence of depression was assessed by Beck Depression Inventory (BDI).
Results: The study and control groups were all female. Depression was detected in 42% of the study group. Results of statistical evaluation have shown that those who carry the 677 C allele are 2.111 times more likely to have FMS than those with the T allele of MTHFR (P<0.001). There was no relationship between distribution in the MTHFR gene C677 polymorphisms, functional status (P=0.107), or BDI scores (P=0.848) in study group.
Conclusion: Our study found that the presence of the MTHFR C677T variant was protective against FMS. Based on these results, comprehensive studies in rare types of polymorphisms of MTHFR should be conducted.

Keywords

Fibromyalgia Syndrome, Methylenetetrahydrofolate reductase gene, C677T mutation, Depression

Project Number

KA12/274

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