原发性痛风与高尿酸血症相关基因的研究进展

被引:6
作者
唐莹莹
成志锋
机构
[1] 哈尔滨医科大学附属第四医院内分泌科
关键词
痛风; 高尿酸血症; 基因; 代谢综合征;
D O I
暂无
中图分类号
R589.7 [嘌呤(Purine)代谢障碍];
学科分类号
100201 [内科学];
摘要
遗传因素是痛风发病的一个重要因素。高尿酸血症和痛风的易感性在全基因组关联研究和Meta的研究中已经有了显著的提高。基因的突变是涉及嘌呤的酶类编码和尿酸产生过多,及细胞过度凋亡和三磷酸腺苷退化的结果。而肾脏尿酸盐的吸收和分泌平衡是决定血清尿酸水平的主要因素,突变所导致的基因功能缺失可引起高尿酸血症与遗传性肾脏疾病。
引用
收藏
页码:3483 / 3485
页数:3
相关论文
共 12 条
[1]
Genome‐Wide Association of Serum Uric Acid Concentration: Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia[J] RebekahKarns;GeZhang;GuangyunSun;SubbaRao Indugula;HongCheng;DubravkaHavas‐Augustin;NatalijaNovokmet;DuskoRudan;ZijadDurakovic;SasaMissoni;RanajitChakraborty;PavaoRudan;RanjanDeka Annals of Human Genetics 2012,
[2]
Multiple Genetic Loci Influence Serum Urate Levels and Their Relationship With Gout and Cardiovascular Disease Risk Factors[J] Circulation: Cardiovascular Genetics 2010,
[3]
The genetic basis of hyperuricaemia and gout[J] Tony R. Merriman;Nicola Dalbeth Joint Bone Spine 2010,
[4]
Genetics of gout[J] Hyon K Choi;Yanyan Zhu;David B Mount Current Opinion in Rheumatology 2010,
[5]
Genetic analysis of ABCG2 gene C421A polymorphism with gout disease in Chinese Han male population[J] Binbin Wang;Zhimin Miao;Shiguo Liu;Jing Wang;Shiyi Zhou;Lin Han;Dongmei Meng;Yunlong Wang;Changgui Li;Xu Ma Human Genetics 2010,
[6]
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study[J] The Lancet 2008,
[7]
Urate Transport Across the Apical Membrane of Renal Proximal Tubules[J] Hitoshi Endou;Naohiko Anzai Nucleosides; Nucleotides and Nucleic Acids 2008,
[8]
Independent Impact of Gout on Mortality and Risk for Coronary Heart Disease[J] Hyon K. Choi;Gary Curhan Circulation 2007,
[9]
A highly conserved hydrophobic motif in the exofacial vestibule of fructose transporting SLC2A proteins acts as a critical determinant of their substrate selectivity[J] Andrei R. Manolescu;Robert Augustin;Kelle Moley;Chris Cheeseman Molecular Membrane Biology 2007,
[10]
Association between intronic SNP in urate-anion exchanger gene; SLC22A12 ; and serum uric acid levels in Japanese[J] Yukio Shima;Koji Teruya;Hidehiko Ohta Life Sciences 2006,