中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2012年
2期
194-199
,共6页
付丽丽%林婴%杨正林%尹一兵
付麗麗%林嬰%楊正林%尹一兵
부려려%림영%양정림%윤일병
单核苷酸多态性%糖尿病视网膜病变%糖尿病肾病%单倍型
單覈苷痠多態性%糖尿病視網膜病變%糖尿病腎病%單倍型
단핵감산다태성%당뇨병시망막병변%당뇨병신병%단배형
Single nucleotide polymorphisms%Diabetic retinopathy%Diabetic nephropathy%Haplotype
目的 研究TCF7L2、CDKAL1、SLC30A8和HHEX基因单核苷酸多态性(single nucleotide polymorphism,SNP)与2型糖尿病微血管并发症的相关性.方法 采用病例-对照方法分析研究对象[糖尿病视网膜病变组(diabetic retinopathy,DR)479例,糖尿病肾病组(diabetic nephropathy,DN) 248例,对照组650名]的TCF7L2基因rs7903146、rs6585205、rs11196218位点,CDKAL1基因rs10946398、rs4712527位点,SLC30A8基因rs13266634、rs3802177、rs11558471位点,HHEX基因rs1111875、rs7923837位点多态性与DR、DN发病风险的关系.结果 SLC30A8 rs11558471的等位基因及基因型频率在DR与对照组间差异有统计学意义(P＜0.05),等位基因A、基因型AA的OR值分别为1.27、1.68,TCF7L2 rs11196218的A等位基因在DN与对照组之间差异有统计学意义(P=0.0051,OR=1.37),但对P值做Bonferroni校正后差异无统计学意义.SLC30A8 rs13266634和rs3802177,CDKAL1 rs10946398,TCF7L2 rs6585205、rs7903146、rs11196218,HHEX rs7923837的等位基因及基因型频率在DR组与对照组间比较差异无统计学意义(P＞0.05),TCF7L2 rs6585205,CDKAL1 rs4712527,SLC30A8 rs13266634、rs3802177和rs11558471和HHEX rs7923837的等位基因和基因型频率在DN与对照组间差异无统计学意义,但是其相应的OR值都大于1.结论 SLC30A8基因多态性可能与DR发病相关；TCF7L2基因多态性可能与DN发病相关；不能排除CDKAL1、TCF7L2、HHEX基因多态性与DR的相关性及SLC30A8、CDKAL1、HHEX基因多态性与DN的相关性.
目的 研究TCF7L2、CDKAL1、SLC30A8和HHEX基因單覈苷痠多態性(single nucleotide polymorphism,SNP)與2型糖尿病微血管併髮癥的相關性.方法 採用病例-對照方法分析研究對象[糖尿病視網膜病變組(diabetic retinopathy,DR)479例,糖尿病腎病組(diabetic nephropathy,DN) 248例,對照組650名]的TCF7L2基因rs7903146、rs6585205、rs11196218位點,CDKAL1基因rs10946398、rs4712527位點,SLC30A8基因rs13266634、rs3802177、rs11558471位點,HHEX基因rs1111875、rs7923837位點多態性與DR、DN髮病風險的關繫.結果 SLC30A8 rs11558471的等位基因及基因型頻率在DR與對照組間差異有統計學意義(P＜0.05),等位基因A、基因型AA的OR值分彆為1.27、1.68,TCF7L2 rs11196218的A等位基因在DN與對照組之間差異有統計學意義(P=0.0051,OR=1.37),但對P值做Bonferroni校正後差異無統計學意義.SLC30A8 rs13266634和rs3802177,CDKAL1 rs10946398,TCF7L2 rs6585205、rs7903146、rs11196218,HHEX rs7923837的等位基因及基因型頻率在DR組與對照組間比較差異無統計學意義(P＞0.05),TCF7L2 rs6585205,CDKAL1 rs4712527,SLC30A8 rs13266634、rs3802177和rs11558471和HHEX rs7923837的等位基因和基因型頻率在DN與對照組間差異無統計學意義,但是其相應的OR值都大于1.結論 SLC30A8基因多態性可能與DR髮病相關；TCF7L2基因多態性可能與DN髮病相關；不能排除CDKAL1、TCF7L2、HHEX基因多態性與DR的相關性及SLC30A8、CDKAL1、HHEX基因多態性與DN的相關性.
목적 연구TCF7L2、CDKAL1、SLC30A8화HHEX기인단핵감산다태성(single nucleotide polymorphism,SNP)여2형당뇨병미혈관병발증적상관성.방법 채용병례-대조방법분석연구대상[당뇨병시망막병변조(diabetic retinopathy,DR)479례,당뇨병신병조(diabetic nephropathy,DN) 248례,대조조650명]적TCF7L2기인rs7903146、rs6585205、rs11196218위점,CDKAL1기인rs10946398、rs4712527위점,SLC30A8기인rs13266634、rs3802177、rs11558471위점,HHEX기인rs1111875、rs7923837위점다태성여DR、DN발병풍험적관계.결과 SLC30A8 rs11558471적등위기인급기인형빈솔재DR여대조조간차이유통계학의의(P＜0.05),등위기인A、기인형AA적OR치분별위1.27、1.68,TCF7L2 rs11196218적A등위기인재DN여대조조지간차이유통계학의의(P=0.0051,OR=1.37),단대P치주Bonferroni교정후차이무통계학의의.SLC30A8 rs13266634화rs3802177,CDKAL1 rs10946398,TCF7L2 rs6585205、rs7903146、rs11196218,HHEX rs7923837적등위기인급기인형빈솔재DR조여대조조간비교차이무통계학의의(P＞0.05),TCF7L2 rs6585205,CDKAL1 rs4712527,SLC30A8 rs13266634、rs3802177화rs11558471화HHEX rs7923837적등위기인화기인형빈솔재DN여대조조간차이무통계학의의,단시기상응적OR치도대우1.결론 SLC30A8기인다태성가능여DR발병상관；TCF7L2기인다태성가능여DN발병상관；불능배제CDKAL1、TCF7L2、HHEX기인다태성여DR적상관성급SLC30A8、CDKAL1、HHEX기인다태성여DN적상관성.
Objective To study the associations of single nucleotide polymorphisms (SNPs) of TCF7L2,CDKAL1,SLC30A8,HHEX with diabetic retinopathy (DR) and nephropathy (DN) in type 2 diabetes mellitus.Methods A total of 479 subjects with DR,248 with DN and 650 without DR or DN were recruited to assess the associations between SNPs of TCF7L2 (rs7903146,rs6585205,rs11196218),CDKAL1 (rs10946398,rs4712527), SLC30A8 (rs13266634,rs3802177,rs11558471) and HHEX (rs1111875,rs7923837) and the development of DR and DN.Results There were significant differences in genotypic and allele frequencies of rs11558471 (SLC30A8)between DR and control groups (P＜0.05),the odds ratio (OR) values of A and AA were 1.27 and 1.68.The distributions of genotype and allele frequency for rs11196218 (TCF7L2) were significantly different between DN and control group (P =0.0051,OR=1.37).However,the P value after Bonferroni correction showed no significant difference.No significant differences were found in the distributions of rs13266634 and rs3802177 (SLC30A8), rs10946398 (CDKAL1),rs6585205,rs7903146 and rs11196218 (TCF7L2)and rs7923837(HHEX) between DR and control groups,and nor significant differences were found in distributions of rs6585205 (TCF7L2),rs4712527 (CDKAL1),rs13266634,rs3802177 and rs11558471 (SLC30A8),and 7923837 (HHEX) between DN and control groups,though for all comparison the OR values were greater than 1.Conclusion Polymorphisms of SLC30A8 and TCF7L2 genes may be associated with the development of DR and DN,respectively.Association between the polymorphisms of CKDAL1,TCF7L2 and HHEX genes and DR,and between the polymorphisms of SLC30A8,HHEX and CDKAL1 genes and DN,cannot be excluded.
