安徽医科大学学报
安徽醫科大學學報
안휘의과대학학보
ACTA UNIVERSITY MEDICINALIS ANHUI
2015年
5期
612-615
,共4页
斑秃%遗传学%关联分析%单核苷酸多态性
斑禿%遺傳學%關聯分析%單覈苷痠多態性
반독%유전학%관련분석%단핵감산다태성
alopecia areata%genetics%association study%single-nucleotide polymorphism
目的：研究国外斑秃人群已发现的易感基因与中国汉族人群斑秃的相关性。方法选择736例斑秃患者和1840例对照者,提取基因组 DNA,利用 Sequenom Massarray系统,对国外报道的斑秃易感基因位点[17个单核苷酸多态性(SNPs)]进行验证,用 Plink 1．07软件对基因型进行关联分析。结果 CTLA4基因上 rs3087243( P =0．041, OR =1．18,95% CI =1．01~1．38),经 Bonferroni 校正后无显著相关性(Pc =0．697),其余16个位点( TLR1、DMBT1、CHIT1、GBP4、 CIITA、 IL31RA、 CD96、 INPPL1、 MASP2、 IL-13、 KI-AA0350、PTPN22、SPATA5、TRAF1/ C5、IL1A、IL2RA)等位基因频率在病例组和对照组之间差异无统计学意义( P >0．05)；分层分析显示发病年龄>20岁与≤20岁两组之间比较, TRAF1基因中 rs2416808位点(P =0．0184, OR =1．35,95% CI =1．05~1．74)；轻型与重型斑秃、有无家族史,等位基因频率在两两之间比较差异均无统计学意义(P >0．05)。结论国外报道的17个 SNPs 与中国汉族人群的斑秃没有显著相关性,不同人群之间可能存在遗传异质性,进一步的研究需要在较大的斑秃样本中进行。
目的：研究國外斑禿人群已髮現的易感基因與中國漢族人群斑禿的相關性。方法選擇736例斑禿患者和1840例對照者,提取基因組 DNA,利用 Sequenom Massarray繫統,對國外報道的斑禿易感基因位點[17箇單覈苷痠多態性(SNPs)]進行驗證,用 Plink 1．07軟件對基因型進行關聯分析。結果 CTLA4基因上 rs3087243( P =0．041, OR =1．18,95% CI =1．01~1．38),經 Bonferroni 校正後無顯著相關性(Pc =0．697),其餘16箇位點( TLR1、DMBT1、CHIT1、GBP4、 CIITA、 IL31RA、 CD96、 INPPL1、 MASP2、 IL-13、 KI-AA0350、PTPN22、SPATA5、TRAF1/ C5、IL1A、IL2RA)等位基因頻率在病例組和對照組之間差異無統計學意義( P >0．05)；分層分析顯示髮病年齡>20歲與≤20歲兩組之間比較, TRAF1基因中 rs2416808位點(P =0．0184, OR =1．35,95% CI =1．05~1．74)；輕型與重型斑禿、有無傢族史,等位基因頻率在兩兩之間比較差異均無統計學意義(P >0．05)。結論國外報道的17箇 SNPs 與中國漢族人群的斑禿沒有顯著相關性,不同人群之間可能存在遺傳異質性,進一步的研究需要在較大的斑禿樣本中進行。
목적：연구국외반독인군이발현적역감기인여중국한족인군반독적상관성。방법선택736례반독환자화1840례대조자,제취기인조 DNA,이용 Sequenom Massarray계통,대국외보도적반독역감기인위점[17개단핵감산다태성(SNPs)]진행험증,용 Plink 1．07연건대기인형진행관련분석。결과 CTLA4기인상 rs3087243( P =0．041, OR =1．18,95% CI =1．01~1．38),경 Bonferroni 교정후무현저상관성(Pc =0．697),기여16개위점( TLR1、DMBT1、CHIT1、GBP4、 CIITA、 IL31RA、 CD96、 INPPL1、 MASP2、 IL-13、 KI-AA0350、PTPN22、SPATA5、TRAF1/ C5、IL1A、IL2RA)등위기인빈솔재병례조화대조조지간차이무통계학의의( P >0．05)；분층분석현시발병년령>20세여≤20세량조지간비교, TRAF1기인중 rs2416808위점(P =0．0184, OR =1．35,95% CI =1．05~1．74)；경형여중형반독、유무가족사,등위기인빈솔재량량지간비교차이균무통계학의의(P >0．05)。결론국외보도적17개 SNPs 여중국한족인군적반독몰유현저상관성,불동인군지간가능존재유전이질성,진일보적연구수요재교대적반독양본중진행。
Objective To study the correlation between alopecia areata and the susceptibility genes identified in our previous study with Han Chinese population. Methods The study performed an independent replication study using 736 cases and 1 840 controls. DNA was extracted from peripheral blood leukocytes by salting out with saturat-ed NaCl solution according to standard methods. The evidence for association had been obtained from former gene study. Then a fine-mapping study and genotyped the locus with an additional 17 SNPs were performed. Data were analyzed with the use of Plink 1. 07 software. Results Only one SNP achieved nominal significance, rs3087243 (P = 0. 041, OR = 1. 18, 95% CI = 1. 01 ~ 1. 38). The other 16 genes (TLR1, DMBT1, CHIT1, GBP4, CIITA, IL31RA, CD96, INPPL1, MASP2, IL-13, KIAA0350, PTPN22, SPATA5, TRAF1 / C5, IL1A, IL2R) failed. A further stratification analysis of alopecia areata was adopted, including the analysis of family history, the age of on-set and the severity of alopecia areata. The stratification analysis revealed that the age of onset > 20 years achieved nominal significance P < 0. 05 for one SNP, rs2416808 (P = 0. 018, OR = 1. 35, 95% CI = 1. 05 ~ 1. 74), where-as, the other results were of no statistical significance. Conclusion The results indicate that 17 SNPs may not be associated with AA in Han Chinese population. Further study should be performed in a larger Han Chinese sam-ples.
