中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
1期
89-93
,共5页
龚波%李秀兰%李宁%郝芳%陈蓉%曾光群%张丁丁
龔波%李秀蘭%李寧%郝芳%陳蓉%曾光群%張丁丁
공파%리수란%리저%학방%진용%증광군%장정정
LOXL1基因%单核苷酸多态性%原发性开角型青光眼
LOXL1基因%單覈苷痠多態性%原髮性開角型青光眼
LOXL1기인%단핵감산다태성%원발성개각형청광안
LOXL1 gene%Single nucleotide polymorphism%Primary open-angle glaucoma
目的 探讨四川地区原发性开角型青光眼(primary open angle glaucoma,POAG)与LOXL1基因单核苷酸多态性(single nucleotide polymorphism,SNPs)位点rs1048661、rs3825942和rs2165241的关联性.方法 选取416例POAG患者及997名正常对照,采用病例-对照关联研究设计方法,用单碱基延伸(SNaPshot)法对已报道的LOXL1基因的3个标签SNPs位点(rs1048661、rs3825942和rs2165241)进行基因分型.结果 LOXL1基因的3个标签SNPs位点rs1048661、rs3825942和rs2165241的基因型频率在四川地区POAG病例组和对照组间差异无统计学意义(P=0.578、P=0.846、P=0.966),其相应的OR值(95％CI)分别是1.085 (0.92～1.28)、1.059 (0.82～1.37)和1.006(0.77～1.32).这3个位点的等位基因频率在POAG病例组和正常对照组间的差异也均无统计学意义(P=0.322、P=0.660、P=0.965).结论 LOXL1基因SNPs位点rs1048661、rs3825942和rs2165241与四川地区POAG无关联性.
目的 探討四川地區原髮性開角型青光眼(primary open angle glaucoma,POAG)與LOXL1基因單覈苷痠多態性(single nucleotide polymorphism,SNPs)位點rs1048661、rs3825942和rs2165241的關聯性.方法 選取416例POAG患者及997名正常對照,採用病例-對照關聯研究設計方法,用單堿基延伸(SNaPshot)法對已報道的LOXL1基因的3箇標籤SNPs位點(rs1048661、rs3825942和rs2165241)進行基因分型.結果 LOXL1基因的3箇標籤SNPs位點rs1048661、rs3825942和rs2165241的基因型頻率在四川地區POAG病例組和對照組間差異無統計學意義(P=0.578、P=0.846、P=0.966),其相應的OR值(95％CI)分彆是1.085 (0.92～1.28)、1.059 (0.82～1.37)和1.006(0.77～1.32).這3箇位點的等位基因頻率在POAG病例組和正常對照組間的差異也均無統計學意義(P=0.322、P=0.660、P=0.965).結論 LOXL1基因SNPs位點rs1048661、rs3825942和rs2165241與四川地區POAG無關聯性.
목적 탐토사천지구원발성개각형청광안(primary open angle glaucoma,POAG)여LOXL1기인단핵감산다태성(single nucleotide polymorphism,SNPs)위점rs1048661、rs3825942화rs2165241적관련성.방법 선취416례POAG환자급997명정상대조,채용병례-대조관련연구설계방법,용단감기연신(SNaPshot)법대이보도적LOXL1기인적3개표첨SNPs위점(rs1048661、rs3825942화rs2165241)진행기인분형.결과 LOXL1기인적3개표첨SNPs위점rs1048661、rs3825942화rs2165241적기인형빈솔재사천지구POAG병례조화대조조간차이무통계학의의(P=0.578、P=0.846、P=0.966),기상응적OR치(95％CI)분별시1.085 (0.92～1.28)、1.059 (0.82～1.37)화1.006(0.77～1.32).저3개위점적등위기인빈솔재POAG병례조화정상대조조간적차이야균무통계학의의(P=0.322、P=0.660、P=0.965).결론 LOXL1기인SNPs위점rs1048661、rs3825942화rs2165241여사천지구POAG무관련성.
Objective To investigate association between the lysyl oxidase-like 1 (LOXL1)gene single nucleotide polymorphism(SNP) and primary open-angle glaucoma (POAG) in Sichuan population.Methods In this study,416 subjects with primary open-angle glaucoma and 997 normal controls were recruited.Three reported LOXL1 tag SNPs (rs1048661,rs3825942 and rs2165241)were genotyped by SNaPshot method.Results The study showed that the genotypes of LOXL1 rs1048661,rs3825942 and rs2165241 between POAG and control groups were not statistically significant (OR=1.085,95％CI 0.92-1.28,P=0.578 for rs1048661 ;OR=1.059,95％CI 0.82-1.37,P=0.846 for rs3825942; OR=1.006,95％CI 0.77-1.32,P=0.966 for rs2165241,respectively).There were no significant difference in allele frequency distribution ofLOXL1 rs1048661、rs3825942 and rs2165241 between POAG and normal controls (P=0.322,P=0.660,P=0.965).Conclusion The results from the present study do not indicate the association of LOXL1 SNPs (rs1048661,rs3825942 and rs2165241)with POAG in Sichuan population.
