ENPP1 K121Q 유전자 다형성과 대사증후군과의 관련성 = Association of ENPP1 K121Q Polymorphism with Metabolic Syndrome

다국어 초록 (Multilingual Abstract)

Background: Metabolic syndrome is a cluster of several metabolic disorders (central obesity, dyslipidemia, hyperglycemia,and hypertension). It is closely related to the cardiovascular risk factors. ENPP1 is an inhibitor of insulin-induced activation of the insulin receptor. The aim of this study was to investigate the association between ENPP1 K121Q polymorphism and metabolic syndrome in Korean.
Methods: We measured BMI, waist circumference, blood pressure, lipid profile, fasting glucose in the participants who visited Health Promotion Center, Jeju National University Hospital from February to July 2008. ENPP1 K121Q polymorphism was determined by restriction fragment-length polymorphism polymerase chain reaction in 84 patients with metabolic syndrome and 114 control group.
Results: The frequencies of EENPP1 K121Q polymorphism were 27.4% in metabolic syndrome and 9.6% in control group.
BMI, waist circumference, blood pressure were increased in male K121Q group and triglyceride was increased in female K121Q group.
Conclusion: K121Q polymorphism was more frequent in the patients with metabolic syndrome among Koreans. There were differences of the metabolic components according to the genotype. It supports the K121Q polymorphism was associated with the genetic susceptibility for metabolic syndrome.

국문 초록 (Abstract)

연구배경: 대사증후군은 비만, 고혈압, 이상지질혈증, 내당능장애 등 각종 심혈관질환의 위험요인들이 함께 동반되어 나타나는 질환으로 심혈관계 질환에 의한 사망률과 밀접한 관련이 있다. 대사증후군은 생활습관, 영양상태, 신체활동, 유전적 소인 등 다양한 요인에 영향을 받는다. ENPP1은 인슐린 저항성과 관련된 유전자로서 대부분의 연구가 당뇨와 비만에관련된 것이며, 그 결과는 지역 및 인종별로 다양하게 보고되고 있다. 본 연구에서는 한국인에서 ENPP1 K121Q 유전자 다형성과 대사증후군과의 관련성을 알아보고자 한다.
방법: 2008년 2월부터 2008년 7월까지 6개월간 제주도 소재일개 대학병원 건강증진센터를 방문한 수진자를 대상으로 대사증후군 환자와 대조군으로 나누어 조사, 비교하였다. 기초설문, 신체검사, 혈액검사 및 ENPP1 K121Q 유전자 다형성검사를 시행하였다.
결과: 대사증후군에서 유전자 변이의 빈도는 84명 중 23명으로 27.4%, 대조군에서는 114명 중 9명으로 9.6%로 나타났다.
두 군 간의 유전자변이의 빈도의 차이는 통계적으로 유의하게 나타났다. 남자의 경우 K121Q군에서 대사증후군의 구성요소 중 혈압과 허리둘레가 의미있게 높았으며, 여자의 경우K121Q군에서 중성지방이 의미있게 높게 나타나 남녀 간에 유의한 차이를 나타낸 대사증후군의 구성요소가 달랐다.
결론: ENPP1 K121Q 유전자 다형성의 빈도는 대사증후군 환자에서 높게 나타났으며, 유전자 다형성 유무에 따라 나누었을 때 두 집단 간에 대사증후군 구성요소가 의미있는 차이를보였다. 그러므로 K121Q 유전자 다형성은 대사증후군과 관련이 높음을 알 수 있었다.

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