人类FAM13A基因研究进展

摘要

全基因组关联研究(genome-wide association studies,GWAS)发现FAM13A基因(家族序列相似性13,成员A,family with sequence similarity 13 member A;MIM613299)的异构体和几种常见的慢性肺疾病(chronic lung diseases,CLD)如哮喘,慢性阻塞性肺病(chronic obstructive pulmonary disease,COPD)以及特发性间质性肺炎(idiopathic interstitial pneumonias,ⅡP)中的肺功能相关.该基因在2004年被克隆,但其编码的蛋白质功能尚不清楚.FAM13A基因在慢性肺疾病中的遗传作用特点表明其在肺生理学和慢性肺疾病中具有重要的功能.该综述简要总结了关于FAM13A基因最新研究进展,简述了除了其公认的遗传作用,研究其生物学功能的必要性.对FAM13A异构体的进一步解释将有助于理解慢性肺疾病的机制,并为积极干预提供可能.%Variants in FAM13 A (family with sequence similarity 13 member A) have been found in genome-wide association studies (GWAS) to associate with lung function in several common chronic lung diseases (CLD) such as asthma,chronic obstructive pulmonary disease (COPD),as well as in idiopathic interstitial pneumonias(ⅡP).This gene was cloned in 2004,yet the function of encoded protein is unknown.Its genetic contribution in CLD suggests a major function of this gene both in lung physiology and CLD.This review provides a brief summary of the current research of FAM13A,and demonstrates the necessity to study its biological function besides its well accepted genetic contribution.Further interpretations of FAM13A variants may help in understanding of CLD mechanisms and offer opportunity for intervention.