中华眼科杂志
中華眼科雜誌
중화안과잡지
Chinese Journal of Ophthalmology
2013年
4期
334-339
,共6页
赵静静%杨学秋%李珊珊%李自立%庄文娟
趙靜靜%楊學鞦%李珊珊%李自立%莊文娟
조정정%양학추%리산산%리자립%장문연
近视%胰岛素样生长因子Ⅰ%多态性,单核苷酸
近視%胰島素樣生長因子Ⅰ%多態性,單覈苷痠
근시%이도소양생장인자Ⅰ%다태성,단핵감산
Myopia%Insulin-like growth factor Ⅰ%Polymorphism,single nucleotide
目的 探讨胰岛素样生长因子1(IGF-1)基因及其调控区域的基因多态性与超高度近视眼的相关性.方法 采用病例-对照关联分析的研究方法,研究对象包括302名超高度近视患者和401名正常对照组,提取受试者全血DNA,采用MassARRAY时间飞行质谱技术对所有研究对象IGF-1上的7个标签单核苷酸多态性(tSNP)位点进行基因分型,基因型与等位基因频率采用x2检验进行统计学分析,同时对多重比较进行Bonferroni校正.采用Haploview软件分析连锁不平衡区块和基于连锁不平衡的单体型,利用置换次数为50 000次的置换检验进行多重检验矫正.结果 研究的7个tSNP除病例组中rs5742629位点外均符合Hardy-Weinberg平衡,其中4个位点rs5742629(A/G)、rs12423791(G/C)、rs35766 (G/A)和rs1457601 (T/A)在病例组与对照组中等位基因频率分别为A(56.5％、62.3％)/G (43.5％、27.7％),G(70.4％、77.1％)/C (29.6％、22.9％),G(33.9％、28.8％)/A(66.1％、71.2％),T(72.5％、77.3％)/A(27.5％、22.7％),这4个位点的等位基因频率比较时发现两组间差异具有统计学意义(x2=4.968,8.059,4.250,4.245；P＜0.05),经过Bonferroni校正后,仅rs 12423791位点差异仍表现出统计学意义(P =0.005)；单体型rs5742629和rs12423791的GC型经过50 000次置换检验后两组间具有统计学意义(P=0.033).结论 IGF-1基因的rs12423791位点的基因多态性与超高度近视显著相关,提示在中国人群中IGF-1基因可能是超高度近视的候选基因.
目的 探討胰島素樣生長因子1(IGF-1)基因及其調控區域的基因多態性與超高度近視眼的相關性.方法 採用病例-對照關聯分析的研究方法,研究對象包括302名超高度近視患者和401名正常對照組,提取受試者全血DNA,採用MassARRAY時間飛行質譜技術對所有研究對象IGF-1上的7箇標籤單覈苷痠多態性(tSNP)位點進行基因分型,基因型與等位基因頻率採用x2檢驗進行統計學分析,同時對多重比較進行Bonferroni校正.採用Haploview軟件分析連鎖不平衡區塊和基于連鎖不平衡的單體型,利用置換次數為50 000次的置換檢驗進行多重檢驗矯正.結果 研究的7箇tSNP除病例組中rs5742629位點外均符閤Hardy-Weinberg平衡,其中4箇位點rs5742629(A/G)、rs12423791(G/C)、rs35766 (G/A)和rs1457601 (T/A)在病例組與對照組中等位基因頻率分彆為A(56.5％、62.3％)/G (43.5％、27.7％),G(70.4％、77.1％)/C (29.6％、22.9％),G(33.9％、28.8％)/A(66.1％、71.2％),T(72.5％、77.3％)/A(27.5％、22.7％),這4箇位點的等位基因頻率比較時髮現兩組間差異具有統計學意義(x2=4.968,8.059,4.250,4.245；P＜0.05),經過Bonferroni校正後,僅rs 12423791位點差異仍錶現齣統計學意義(P =0.005)；單體型rs5742629和rs12423791的GC型經過50 000次置換檢驗後兩組間具有統計學意義(P=0.033).結論 IGF-1基因的rs12423791位點的基因多態性與超高度近視顯著相關,提示在中國人群中IGF-1基因可能是超高度近視的候選基因.
목적 탐토이도소양생장인자1(IGF-1)기인급기조공구역적기인다태성여초고도근시안적상관성.방법 채용병례-대조관련분석적연구방법,연구대상포괄302명초고도근시환자화401명정상대조조,제취수시자전혈DNA,채용MassARRAY시간비행질보기술대소유연구대상IGF-1상적7개표첨단핵감산다태성(tSNP)위점진행기인분형,기인형여등위기인빈솔채용x2검험진행통계학분석,동시대다중비교진행Bonferroni교정.채용Haploview연건분석련쇄불평형구괴화기우련쇄불평형적단체형,이용치환차수위50 000차적치환검험진행다중검험교정.결과 연구적7개tSNP제병례조중rs5742629위점외균부합Hardy-Weinberg평형,기중4개위점rs5742629(A/G)、rs12423791(G/C)、rs35766 (G/A)화rs1457601 (T/A)재병례조여대조조중등위기인빈솔분별위A(56.5％、62.3％)/G (43.5％、27.7％),G(70.4％、77.1％)/C (29.6％、22.9％),G(33.9％、28.8％)/A(66.1％、71.2％),T(72.5％、77.3％)/A(27.5％、22.7％),저4개위점적등위기인빈솔비교시발현량조간차이구유통계학의의(x2=4.968,8.059,4.250,4.245；P＜0.05),경과Bonferroni교정후,부rs 12423791위점차이잉표현출통계학의의(P =0.005)；단체형rs5742629화rs12423791적GC형경과50 000차치환검험후량조간구유통계학의의(P=0.033).결론 IGF-1기인적rs12423791위점적기인다태성여초고도근시현저상관,제시재중국인군중IGF-1기인가능시초고도근시적후선기인.
Objective To investigate whether the polymorphisms of insulin-like growth factor-1 (IGF-1) gene and its regulatory regions are associated with extreme high myopia.Methods A case-control analysis of 302 subjects with extreme high myopia and 401 controls was undertaken.Genomic DNA was obtained from peripheral blood.Seven tag single nucleotide polymorphisms (tSNP) across the IGF-1 gene region were selected to capture the majority of genetic variation.All tSNP were genotyped using the MassArray platform and MALDI-TOF analysis.Genotypic distribution was tested for Hardy-Weinberg equilibrium.Statistical analyses were performed using the SPSS (version 13.0:SPSS Science,Chicago,IL)software.The genotype and allele frequencies were evaluated using the x2 tests and performed by Bonferroni corrections for multiple comparisons.The significance of the differences in the estimated haplotype frequencies between the myopia and control groups was examined on Haploview 4.2 using x2 tests,and haplotypes were corrected by using permutation test after running 50 000 times.Results Among seven different IGF-1 tSNP tested,the allele frequencies of four tSNP-rs5742629 (A/G),rs12423791 (G/C),rs35766 (G/A) and rs1457601 (T/A) in the myopia and the control groups were A (56.5 ％,62.3％)/G (43.5％,27.7％),G(70.4％,77.1％)/C (29.6％,22.9％),G (33.9％,28.8％)/A (66.1％,71.2％),T(72.5％,77.3％)/A(27.5％,22.7％),respectively.And they showed significant differences (x2 =4.968,8.059,4.250,4.245,P ＜0.05) between the two groups.However,only rs12423791 remained significance after Bonferroni correction.The haplotype GC of rs5742629-rs12423791 was associated with extreme high myopia (P =0.033) after 50 000 permutations for multiple comparisons as well.Conclusions The polymorphism of rs12423791 in IGF-1 may be associated with extreme high myopia in the Chinese population.
