[1]康丽华,邹茜,杨梅,等.年龄相关性白内障患者沉默信息调节因子1（SIRT1）的单核苷酸多态性研究[J].眼科新进展,2017,37(10):939-942.[doi:10.13389/j.cnki.rao.2017.0238]
　KANG Li-Hua,ZOU Xi,YANG Mei,et al.Association of single nucleotide polymorphism of SIRT1 gene with age-related cataract[J].Recent Advances in Ophthalmology,2017,37(10):939-942.[doi:10.13389/j.cnki.rao.2017.0238]
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年龄相关性白内障患者沉默信息调节因子1（SIRT1）的单核苷酸多态性研究/HTML
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
37卷
期数:
2017年10期
页码:
939-942
栏目:
应用研究
出版日期:
2017-10-05

文章信息/Info

Title:
Association of single nucleotide polymorphism of SIRT1 gene with age-related cataract
作者:
康丽华; 邹茜; 杨梅; 管怀进
226001　江苏省南通市，南通大学附属医院眼科
Author(s):
KANG Li-Hua; ZOU Xi; YANG Mei; GUAN Huai-Jin
Department of Ophthalmology，Affiliated Hospital of Nantong University，Nantong 226001，Jiangsu Province，China
关键词:
沉默信息调节因子1; 单核苷酸多态性; 年龄相关性白内障
Keywords:
silent information regulator 1; single nucleotide polymorphism; age-related cataract
分类号:
R776
DOI:
10.13389/j.cnki.rao.2017.0238
文献标志码:
A
摘要:
目的　探讨江苏汉族人群中沉默信息调节因子1（silent information regulator 1，SIRT1）基因的单核苷酸多态性（single nucleotide polymorphism，SNP）与年龄相关性白内障（age-related cataract，ARC）的关系。方法　采用分子流行病学病例对照研究方法和TaqMan RT-PCR法，检测江苏眼病研究苏南无锡市滨湖区、苏北盐城市阜宁县基地人群720例ARC，701例与患者年龄、性别相匹配且无亲属关系的健康者为正常对照组的SIRT1基因5个位点（rs2236319、rs1885472、rs10997868、rs2273773、rs4746720）SNP的基因型，入选者均为汉族。结果　SIRT1基因rs10997868位点不符合哈迪-温伯格平衡，故排除出结果分析。SIRT1基因SNP位点rs2236319及rs1885472在对照组中基因型（AA/AG/GG、CC/CG/GG）的分布频率分别为40.08%、52.60%、7.32%及35.81%、35.23%、28.96%，在ARC组中的基因型分布频率分别为36.94%、56.25%、6.81%及36.67%、32.92%、30.42%。SNP位点rs2273773及rs4746720在对照组中基因型（CC/CT/TT）的分布频率分别为38.37%、54.78%、5.85%及74.75%、17.69%、7.56%，在ARC组中的基因型分布频率分别为39.58%、54.17%、6.25%及71.81%、20.97%、7.22%。两组间各基因型分布频率差异均无统计学意义（均为P>0.05）。结论　SIRT1基因SNP（rs2236319、rs1885472、rs2273773、rs4746720）与江苏汉族人群中ARC发病不相关。
Abstract:
Objective　To investigate the correlation of single nucleotide polymorphisms (SNP) of silent information regulator 1 (SIRT1) gene with age-related cataract (ARC) in Jiangsu Han population.Methods　Population-based case-control study was conducted in 720 cataract cases and 701 healthy controls，who were selected from the database of Funing County of Northern Jiangsu and Binhu District of Wuxi city of Southern Jiangsu.Five SNPs of SIRT1 gene (rs2236319，rs1885472，rs10997868，rs2273773 and rs4746720) were genotyped by Taq-Man RT-PCR methods.Results　The genotype of 2 SNPs in SIRT1 (rs2236319 and rs1885472) was AA/AG/GG and CC/CG/GG respectively，and the genotype frequency in the controls was 40.08%,52.60%,7.32% and 35.81%,35.23%,28.96% respectively，while the frequency in ARCs was 36.94%,56.25%,6.81% and 36.67%,32.92%,30.42%,respectively.The genotype of another 2 SNPs in SIRT1 (rs2273773 and rs4746720) was both CC/CT/TT，and the genotype frequency in the controls was 38.37%,54.78%,5.85% and 74.75%,17.69%,7.56% respectively，while the frequency in ARCs was 39.58%,54.17%,6.25% and 71.81%,20.97%,7.22%,respectively.And there was no significant difference between the two groups (P>0.05).Conclusion　All the five SNPs of SIRT1gene are not associated with ARC in the Jiangsu Han population.

参考文献/References:

［1］　ZHAO J，ELLWEIN LB，CUI H，GE J，GUAN H，LV J，et al.Prevalence of vision impairment in older adults in rural China：the China Nine-Province Survey［J］.Ophthalmology，2010，117（3）：409-416.
［2］　管怀进，康丽华.白内障表观遗传学研究的现状及进展［J］.眼科新进展，2014，34（7）：601-606.
GUAN HJ，KANG LH.Current situation and future development of epigenetic in cataract［J］.Rec Adv Ophthalmol，2014，34（7）：601-606.
［3］　KITADA M，KUME S，TAKEDA-WATANABE A，KANASAKI K，KOYA D.Sirtuins and renal diseases：relationship with aging and diabetic nephropathy［J］.Clin Sci（Lond），2013，124（3）：153-164.
［4］　KANG L，ZHAO W，ZHANG G，WU J，GUAN H.Acetylated 8-oxoguanine DNA glycosylase 1 and its relationship with p300 and SIRT1 in lens epithelium cells from age-related cataract［J］.Exp Eye Res，2015，135（1）：102-108.
［5］　王勇，杨梅，管怀进.ERCC6基因单核苷酸多态性与年龄相关性白内障的关联研究［J］.眼科新进展，2016，36（11）：1029-1031.
WANG Y，YANG M，GUAN HJ.Association of ERCC6 gene single nucleotide polymorphisms with age-related cataract［J］.Rec Adv Ophthal，2016，36（11）：1029-1031.
［6］　CHEN J，ZHOU J，WU J，ZHANG G，KANG L，BEN J，et al.Aberrant epigenetic alterations of glutathione-S-transferase P1 in age-related nuclear cataract［J］.Curr Eye Res，2017，42（3）：402-410.
［7］　CHEN X，XIAO W，CHEN W，LUO L，YE S，LIU Y.The epigenetic modifier trichostatin A，a histone deacetylase inhibitor，suppresses proliferation and epithelial-mesenchymal transition of lens epithelial cells ［J］.Cell Death Dis，2013，4：e884.
［8］　 ALONSO VL，SERRA EC.Lysine acetylation：elucidating the components of an emerging global signaling pathway in trypanosomes［J］.J Biomed Biotechnol，2012，2012：452934.
［9］　TANG Y，LUO J，ZHANG W，GU W.Tip60-dependent acetylation of p53 modulates the decision between cell-cycle arrest and apoptosis［J］.Mol Cell，2006，24（6）：827-839.
［10］　CHONG ZZ，WANG S，SHANG YC，MAIESE K.Targeting cardiovascular disease with novel SIRT1 pathways［J］.Future Cardiol，2012，8（1）：89-100.
［11］　HODGE WG，WHITCHER JP，SATARIANO W.Risk factors for age-related cataracts［J］.Epidemiol Rev，1995，17（2）：336-346.
［12］　LAGOUGE M，ARGMANN C，GERHART-HINES Z，MEZIANE H，LERIN C，DAUSSIN F，et al.Resveratrol improves mitochondrial function and protects against metabolic disease by activating SIRT1 and PGC-1alpha［J］.Cell，2006，127（6）：1109-1122.
［13］　MAEDA S，KOYA D，ARAKI S，BABAZONO T，UMEZONO T，TOYODA M，et al.Association between single nucleotide polymorphisms within genes encoding sirtuin families and diabetic nephropathy in Japanese subjects with type 2 diabetes［J］.Clin Exp Nephrol，2011，15（3）：381-390.
［14］　HELISALMI S，VEPSALAINEN S，HILTUNEN M，KOIVISTO AM，SALMINEN A，LAAKSO M，et al.Genetic study between SIRT1，PPARD，PGC-1alpha genes and Alzheimer’s disease［J］.J Neurol，2008，255（5）：668-673.
［15］　FLACHSBART F，CROUCHER PJ，NIKOLAUS S，HAMPE J，CORDES C，SCHREIBER S，et al.Sirtuin 1（SIRT1） sequence variation is not associated with exceptional human longevity［J］.Exp Gerontol，2006，41（1）：98-102.
［16］　CURJURIC I，IMBODEN M，BRIDEVAUX PO，GERBASE MW，HAUN M，KEIDEL D，et al.Common SIRT1 variants modify the effect of abdominal adipose tissue on aging-related lung function decline［J］.Age（Dordr），2016，38（3）：52.
［17］　KUNINGAS M，PUTTERS M，WESTEENDROP RG，SLAGBOOM PE，VAN HEEMST D.SIRT1 gene，age-related diseases，and mortality：the Leiden 85-plus study［J］.J Gerontol A Biol Sci Med Sci，2007，62（9）：960-965.
［18］　HUANG J，SUN L，LIU M，ZHOU L，LV ZP，HU CY，et al.Association between SIRT1 gene polymorphisms and longevity of populations from Yongfu region of Guangxi［J］.Chin J Med Genet，2013，30（1）：55-59.
［19］　SHIMOYAMA Y，SUZUKI K，HAMAJIMA N，NIWA T.Sirtuin 1 gene polymorphisms are associated with body fat and blood pressure in Japanese［J］.Transl Res，2011，157（6）：339-347.
［20］　SHIMOYAMA Y，MITSUDA Y，TSURUTA Y，SUZUKI K，HAMAJIMA N，NIWA T.SIRTUIN 1 gene polymorphisms are associated with cholesterol metabolism and coronary artery calcification in Japanese hemodialysis patients［J］.J Ren Nutr，2012，22（1）：114-119.

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备注/Memo

备注/Memo:
国家自然科学基金资助（编号：81470616）
更新日期/Last Update: 2017-10-24