痛风及高尿酸血症的研究进展
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摘要
近年来,痛风和高尿酸血症的患病率越来越高,引起了人们的高度重视。目前痛风和高尿酸血症被认为是由血尿酸异常引起的全身性疾病,但是从高尿酸血症到痛风的整个进展过程还不明了,人们试图从基因突变上寻找痛风发生的原因。本文介绍了痛风和高尿酸血症的最近研究进展,并列举了几种可用于检测痛风突变基因的检测方法,对此做一阐述。
In recent years,the prevalence of gout and hyperuricemia is higher and higher,which has attracted people's much attention.At present,gout and hyperuricemia are considered to be systemic diseases caused by abnormal blood uric acid,but the whole progress from hyperuricemia to gout is still unclear.People are trying to find the cause of gout from genetic mutation.This article describes recent research progress in gout and hyperuricemia,and lists several methods for detecting gene mutations of gout.
In recent years,the prevalence of gout and hyperuricemia is higher and higher,which has attracted people's much attention.At present,gout and hyperuricemia are considered to be systemic diseases caused by abnormal blood uric acid,but the whole progress from hyperuricemia to gout is still unclear.People are trying to find the cause of gout from genetic mutation.This article describes recent research progress in gout and hyperuricemia,and lists several methods for detecting gene mutations of gout.
引文
1 Liote F,Pascart T.From hyperuricaemia to gout:what are the missing links.Nat Rev Rheumatol,2018,14:448-449.
2 Pascart T,Liote F.Gout:state of the art after a decade of developments.Rheumatology (Oxford),2019,58:27-44.
3 Kuo CF,Grainge MJ,Zhang W,et al.Global epidemiology of gout:prevalence,incidence and risk factors.Nat Rev Rheumatol,2015,11:649-662.
4 Nakanishi T,Ohya K,Shimada S,et al.Functional cooperation of URAT1 (SLC22A12)and URATv1 (SLC2A9)in renal reabsorption of urate.Nephrol Dial Transplant,2013,28:603-611.
5 Sun M,Vazquez AI,Reynolds RJ,et al.Untangling the complex relationships between incident gout risk,serum urate,and its comorbidities.Arthritis Res Ther,2018,20:90.
6 Woodward OM.ABCG2:the molecular mechanisms of urate secretion and gout:Fig1.American Journal of Physiology-Renal Physiology,2015,309:F485-F488.
7 Doherty M,Jansen TL,Nuki G,et al.Gout:why is this curable disease so seldom cured Ann Rheum Dis,2012,71:1765-1770.
8 Puig JG,Beltran LM,Mejia-Chew C,et al.Ultrasonography in the diagnosis of asymptomatic hyperuricemia and gout.Nucleosides Nucleotides Nucleic Acids,2016,35:517-523.
9 Scire CA,Rossi C,Punzi L,et al.Change gout:how to deal with this “silently-developing killer” in everyday clinical practice.Curr Med Res Opin,2018,34:1411-1417.
10 Yamagishi K,Tanigawa T,Kitamura A,et al.The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people.Rheumatology,2010,49:1461-1465.
11 Feig DI,Kang DH,Johnson RJ.Uric acid and cardiovascular risk.N Engl J Med,2008,359:1811-1821.
12 Mazzali M,Hughes J,Kim YG,et al.Elevated uric acid increases blood pressure in the rat by a novel crystal-independent mechanism.Hypertension,2001,38:1101-1106.
13 Sundstrom J,Sullivan L,D’Agostino RB,et al.Relations of serum uric acid to longitudinal blood pressure tracking and hypertension incidence.Hypertension,2005,45:28-33.
14 Giannopoulos G,Angelidis C,Deftereos S.Gout and arrhythmias:In search for causation beyond association.Trends Cardiovasc Med,2019,29:41-47.
15 Yang Q,Kottgen A,Dehghan A,et al.Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.Circ Cardiovasc Genet,2010,3:523-530.
16 Pascual E,Sivera F,Andres M.Managing Gout in the Patient with Renal Impairment.Drugs Aging,2018,35:263-273.
17 Kanji T,Gandhi M,Clase CM,et al.Urate lowering therapy to improve renal outcomes in patients with chronic kidney disease:systematic review and meta-analysis.BMC Nephrol,2015,16:58.
18 Simeunovic OM,Maas J.Anorexia nervosa and uric acid beyond gout:An idea worth researching.Int J Eat Disord,2018,51:97-101.
19 Prior JA,Mallen CD,Chandratre P,et al.Gout characteristics associate with depression,but not anxiety,in primary care:Baseline findings from a prospective cohort study.Joint Bone Spine,2016,83:553-558.
20 Mitnala S,Phipps-Green A,Franklin C,et al.Clinical and genetic features of diuretic-associated gout:a case-control study.Rheumatology,2016,55:1172-1176.
21 赵杰,游新勇,徐贞贞,等.SNP检测方法在动物研究中的应用.农业工程学报,2018:299-305.
22 Zou Y,Du J,Zhu Y,et al.Associations between the SLC22A12 gene and gout susceptibility:a meta-analysis.Clin Exp Rheumatol,2018,36:442-447.
23 Matsuo H,Yamamoto K,Nakaoka H,et al.Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.Annals of the Rheumatic Diseases,2016,75:652-659.
24 Doyle LA,Yang W,Abruzzo LV,et al.A multidrug resistance transporter from human MCF-7 breast cancer cells.Proc Natl Acad Sci U S A,1998,95:15665-15670.
25 孙志伟,王晰程,高静,等.结直肠癌中MDR1和ABCG2基因多态性与伊立替康疗效及不良反应的关系.中华胃肠外科杂志,2013,16:524-528.
26 Dehghan A,Kottgen A,Yang Q,et al.Association of three genetic loci with uric acid concentration and risk of gout:a genome-wide association study.Lancet,2008,372:1953-1961.
27 Woodward OM,Kottgen A,Coresh J,et al.Identification of a urate transporter,ABCG2,with a common functional polymorphism causing gout.Proc Natl Acad Sci U S A,2009,106:10338-10342.
28 Bhatnagar V,Richard EL,Wu W,et al.Analysis of ABCG2 and other urate transporters in uric acid homeostasis in chronic kidney disease:potential role of remote sensing and signaling.Clinical Kidney Journal,2016,9:444-453.
29 Nakayama A,Matsuo H,Nakaoka H,et al.Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors.Scientific Reports,2015,4.
30 Son CN,Bang SY,Kim SH,et al.ABCG2 Polymorphism Is Associated with Hyperuricemia in a Study of a Community-Based Korean Cohort.J Korean Med Sci,2017,32:1451-1459.
31 Sakiyama M,Matsuo H,Nakaoka H,et al.Common variant of BCAS3 is associated with gout risk in Japanese population:the first replication study after gout GWAS in Han Chinese.BMC Med Genet,2018,19:96.
32 王艳.健康教育对体检人群中痛风及高尿酸血症患者的影响.河北医药,2014,36:2030-2031.
33 王浩然.荧光探针设计机理及发展方向.广州化工,2017,42:24-27.
34 Zhou X,Ren L,Li Y,et al.The next-generation sequencing technology:a technology review and future perspective.Sci China Life Sci,2010,53:44-57.
35 Elshire RJ,Glaubitz JC,Sun Q,et al.A robust,simple genotyping-by-sequencing (GBS)approach for high diversity species.PLoS One,2011,6:e19379.
36 Kim C,Guo H,Kong W,et al.Application of genotyping by sequencing technology to a variety of crop breeding programs.Plant Science,2016,242:14-22.
37 Kupper A,Manmathan HK,Giacomini D,et al.Population Genetic Structure in Glyphosate-Resistant and-Susceptible Palmer Amaranth (Amaranthus palmeri)Populations Using Genotyping-by-sequencing (GBS).Front Plant Sci,2018,9:29.
38 Diouf L,Magwanga RO,Gong W,et al.QTL mapping of fiber quality and yield-related traits in an intra-specific upland cotton using genotype by sequencing (GBS).Int J Mol Sci,2018,19:451-457.
39 Wu X,Blair MW.Diversity in Grain Amaranths and relatives distinguished by genotyping by sequencing (GBS).Front Plant Sci,2017,8:1960.
40 李晓营,刘春霞,刘伟,等.MassArray技术在肿瘤组织突变检测中的应用研究.农垦医学,2012,34:481-483.
41 Semagn K,Babu R,Hearne S,et al.Single nucleotide polymorphism genotyping using Kompetitive Allele Specific PCR (KASP):overview of the technology and its application in crop improvement.Molecular Breeding,2014,33:1-14.
42 Zhao S,Li A,Li C,et al.Development and application of KASP marker for high throughput detection of AhFAD2 mutation in peanut.Electronic Journal of Biotechnology,2017,25:9-12.
43 Ertiro BT,Ogugo V,Worku M,et al.Comparison of Kompetitive Allele Specific PCR (KASP)and genotyping by sequencing (GBS)for quality control analysis in maize.BMC Genomics,2015,16:908.
44 Chen CJ,Tseng CC,Yen JH,et al.ABCG2 contributes to the development of gout and hyperuricemia in a genome-wide association study.Sci Rep,2018,8:3137.
45 Dalbeth N,Phipps-Green A,Frampton C,et al.Relationship between serum urate concentration and clinically evident incident gout:an individual participant data analysis.Ann Rheum Dis,2018,77:1048-1052.
2 Pascart T,Liote F.Gout:state of the art after a decade of developments.Rheumatology (Oxford),2019,58:27-44.
3 Kuo CF,Grainge MJ,Zhang W,et al.Global epidemiology of gout:prevalence,incidence and risk factors.Nat Rev Rheumatol,2015,11:649-662.
4 Nakanishi T,Ohya K,Shimada S,et al.Functional cooperation of URAT1 (SLC22A12)and URATv1 (SLC2A9)in renal reabsorption of urate.Nephrol Dial Transplant,2013,28:603-611.
5 Sun M,Vazquez AI,Reynolds RJ,et al.Untangling the complex relationships between incident gout risk,serum urate,and its comorbidities.Arthritis Res Ther,2018,20:90.
6 Woodward OM.ABCG2:the molecular mechanisms of urate secretion and gout:Fig1.American Journal of Physiology-Renal Physiology,2015,309:F485-F488.
7 Doherty M,Jansen TL,Nuki G,et al.Gout:why is this curable disease so seldom cured Ann Rheum Dis,2012,71:1765-1770.
8 Puig JG,Beltran LM,Mejia-Chew C,et al.Ultrasonography in the diagnosis of asymptomatic hyperuricemia and gout.Nucleosides Nucleotides Nucleic Acids,2016,35:517-523.
9 Scire CA,Rossi C,Punzi L,et al.Change gout:how to deal with this “silently-developing killer” in everyday clinical practice.Curr Med Res Opin,2018,34:1411-1417.
10 Yamagishi K,Tanigawa T,Kitamura A,et al.The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people.Rheumatology,2010,49:1461-1465.
11 Feig DI,Kang DH,Johnson RJ.Uric acid and cardiovascular risk.N Engl J Med,2008,359:1811-1821.
12 Mazzali M,Hughes J,Kim YG,et al.Elevated uric acid increases blood pressure in the rat by a novel crystal-independent mechanism.Hypertension,2001,38:1101-1106.
13 Sundstrom J,Sullivan L,D’Agostino RB,et al.Relations of serum uric acid to longitudinal blood pressure tracking and hypertension incidence.Hypertension,2005,45:28-33.
14 Giannopoulos G,Angelidis C,Deftereos S.Gout and arrhythmias:In search for causation beyond association.Trends Cardiovasc Med,2019,29:41-47.
15 Yang Q,Kottgen A,Dehghan A,et al.Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.Circ Cardiovasc Genet,2010,3:523-530.
16 Pascual E,Sivera F,Andres M.Managing Gout in the Patient with Renal Impairment.Drugs Aging,2018,35:263-273.
17 Kanji T,Gandhi M,Clase CM,et al.Urate lowering therapy to improve renal outcomes in patients with chronic kidney disease:systematic review and meta-analysis.BMC Nephrol,2015,16:58.
18 Simeunovic OM,Maas J.Anorexia nervosa and uric acid beyond gout:An idea worth researching.Int J Eat Disord,2018,51:97-101.
19 Prior JA,Mallen CD,Chandratre P,et al.Gout characteristics associate with depression,but not anxiety,in primary care:Baseline findings from a prospective cohort study.Joint Bone Spine,2016,83:553-558.
20 Mitnala S,Phipps-Green A,Franklin C,et al.Clinical and genetic features of diuretic-associated gout:a case-control study.Rheumatology,2016,55:1172-1176.
21 赵杰,游新勇,徐贞贞,等.SNP检测方法在动物研究中的应用.农业工程学报,2018:299-305.
22 Zou Y,Du J,Zhu Y,et al.Associations between the SLC22A12 gene and gout susceptibility:a meta-analysis.Clin Exp Rheumatol,2018,36:442-447.
23 Matsuo H,Yamamoto K,Nakaoka H,et al.Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.Annals of the Rheumatic Diseases,2016,75:652-659.
24 Doyle LA,Yang W,Abruzzo LV,et al.A multidrug resistance transporter from human MCF-7 breast cancer cells.Proc Natl Acad Sci U S A,1998,95:15665-15670.
25 孙志伟,王晰程,高静,等.结直肠癌中MDR1和ABCG2基因多态性与伊立替康疗效及不良反应的关系.中华胃肠外科杂志,2013,16:524-528.
26 Dehghan A,Kottgen A,Yang Q,et al.Association of three genetic loci with uric acid concentration and risk of gout:a genome-wide association study.Lancet,2008,372:1953-1961.
27 Woodward OM,Kottgen A,Coresh J,et al.Identification of a urate transporter,ABCG2,with a common functional polymorphism causing gout.Proc Natl Acad Sci U S A,2009,106:10338-10342.
28 Bhatnagar V,Richard EL,Wu W,et al.Analysis of ABCG2 and other urate transporters in uric acid homeostasis in chronic kidney disease:potential role of remote sensing and signaling.Clinical Kidney Journal,2016,9:444-453.
29 Nakayama A,Matsuo H,Nakaoka H,et al.Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors.Scientific Reports,2015,4.
30 Son CN,Bang SY,Kim SH,et al.ABCG2 Polymorphism Is Associated with Hyperuricemia in a Study of a Community-Based Korean Cohort.J Korean Med Sci,2017,32:1451-1459.
31 Sakiyama M,Matsuo H,Nakaoka H,et al.Common variant of BCAS3 is associated with gout risk in Japanese population:the first replication study after gout GWAS in Han Chinese.BMC Med Genet,2018,19:96.
32 王艳.健康教育对体检人群中痛风及高尿酸血症患者的影响.河北医药,2014,36:2030-2031.
33 王浩然.荧光探针设计机理及发展方向.广州化工,2017,42:24-27.
34 Zhou X,Ren L,Li Y,et al.The next-generation sequencing technology:a technology review and future perspective.Sci China Life Sci,2010,53:44-57.
35 Elshire RJ,Glaubitz JC,Sun Q,et al.A robust,simple genotyping-by-sequencing (GBS)approach for high diversity species.PLoS One,2011,6:e19379.
36 Kim C,Guo H,Kong W,et al.Application of genotyping by sequencing technology to a variety of crop breeding programs.Plant Science,2016,242:14-22.
37 Kupper A,Manmathan HK,Giacomini D,et al.Population Genetic Structure in Glyphosate-Resistant and-Susceptible Palmer Amaranth (Amaranthus palmeri)Populations Using Genotyping-by-sequencing (GBS).Front Plant Sci,2018,9:29.
38 Diouf L,Magwanga RO,Gong W,et al.QTL mapping of fiber quality and yield-related traits in an intra-specific upland cotton using genotype by sequencing (GBS).Int J Mol Sci,2018,19:451-457.
39 Wu X,Blair MW.Diversity in Grain Amaranths and relatives distinguished by genotyping by sequencing (GBS).Front Plant Sci,2017,8:1960.
40 李晓营,刘春霞,刘伟,等.MassArray技术在肿瘤组织突变检测中的应用研究.农垦医学,2012,34:481-483.
41 Semagn K,Babu R,Hearne S,et al.Single nucleotide polymorphism genotyping using Kompetitive Allele Specific PCR (KASP):overview of the technology and its application in crop improvement.Molecular Breeding,2014,33:1-14.
42 Zhao S,Li A,Li C,et al.Development and application of KASP marker for high throughput detection of AhFAD2 mutation in peanut.Electronic Journal of Biotechnology,2017,25:9-12.
43 Ertiro BT,Ogugo V,Worku M,et al.Comparison of Kompetitive Allele Specific PCR (KASP)and genotyping by sequencing (GBS)for quality control analysis in maize.BMC Genomics,2015,16:908.
44 Chen CJ,Tseng CC,Yen JH,et al.ABCG2 contributes to the development of gout and hyperuricemia in a genome-wide association study.Sci Rep,2018,8:3137.
45 Dalbeth N,Phipps-Green A,Frampton C,et al.Relationship between serum urate concentration and clinically evident incident gout:an individual participant data analysis.Ann Rheum Dis,2018,77:1048-1052.