결 론

본 연구자는 루푸스 환자와 대조군으로 류마티스 질환의 기왕력이 없는 정상인을 대상으로 Fcg 수용체 ⅡA 유전자의 전사조절 부위와 exon4부위,Fcg 수용체 ⅡB 유전자의 exon5부위와 intron5부위의 탐색을 통해 5개의 다형성을 확인하였다.

탐색한 다형성의 유전자형을 결정하여 루푸스 환자군과 정상 대조군 간의 빈도 차이를 살펴본 결과 Fcg 수용체 ⅡB 유전자의 10849T>C 다형성의 major allele을 가지고 있을 때 루푸스의 빈도가 높은 것으로 나타나 Fcg 수용체 ⅡB 유전자가 루푸스의 감수성을 증가 시키는 것으로 추측되어진다.또한 Fcg 수용체

ⅡB 유전자의 다형성과 루푸스와 관련한 임상적 특징과의 관계를 살펴본 결과 11045G>T 다형성에서 백혈구감소증의 빈도가 통계적으로 유의하게 나타났다.

따라서 한국인에서 Fcg 수용체 ⅡB 유전자의 다형성은 루푸스에서 질병의 표현형과 감수성에 연관이 있는 것으로 생각되어진다.

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ABSTRACT

-Genet i cPol ymor phi smsofFc g Recept or si n Kor ean Pat i ent swi t h Syst emi cLupusEr yt hemat osus

Keon-YoungKim

DepartmentofMedicalSciences TheGraduateSchool,AjouUniversity

(SupervisedbyAssociateProfessorChang-HeeSuh)

Backgrounds : Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by polyclonalB-cellactivation and elevated production ofpathogenicautoantibodies.Fcg receptorsarea group ofhematopoeiticcell surface glycoproteins that facilitate the efficiency of antibody-antigen interactions with effector cells ofthe immune system.We have identified singlenucleotidepolymorphisms(SNPs)intheFcg receptorsgene,determined theirfrequency in Korean populations,andelucidatedtheirdifferencebetween SLE patientsandcontrols.

Materials and methods :Blood samples were collected from Korean SLE patients (n = 297) and normalhealthy controls (NC,n = 300) from the rheumatology clinic at the Ajou University Hospital.Genomic DNA was extracted and variation screening ofFcg receptorIIA and Fcg receptorIIB genewascarried outin 40SLE patientsand 40 NC.Weidentified possible polymorphisms in the Fcg receptor IIB gene between exon5 and intron5

region,which was 2.3 kb-sized.Additionally,we amplified that and the wasfound in the-433 T>C (rs7522794),4526A>G (rs1801274),10950 T>G (rs6666965)and 11045 G>T (rs12117530)polymorphism,however the 11045 G>T (rs12117530)polymorphism wasstatistically significantly associatedwith