碳酸酐酶Ⅱ基因多态性与原发性开角型青光眼遗传易感性的关系

目的　探讨碳酸酐酶Ⅱ（ｃａｒｂｏｎｉｃａｎｈｙｄｒａｓｅ，ＣＡⅡ）基因多态性与原发性开角型青光眼（ｐｒｉｍａｒｙｏｐｅｎａｎｇｌｅｇｌａｕｃｏｍａ，ＰＯＡＧ）遗传易感性的关系。方法　采集８１例ＰＯＡＧ患者（ＰＯＡＧ组）和６０位正常人群（对照组）静脉血，应用聚合酶链反应及限制性片段长度多态性技术检测受试对象ＣＡⅡ基因多态性的分布情况。结果　ｒｓ１０５０４８１３位点Ｔ等位基因频率分布两组间差异有统计学意义［χ２ ＝４．０４０、Ｐ＝０．０４，ＯＲ＝０．６１３、９５％ＣＩ＝（０．３８０～０．９８９）］；基因型频率分布在两组间差异无统计学意义（Ｐ＝０．１３３）。ｒｓ３７５８０７８位点及ｒｓ７０３位点基因型频率分布及等位基因频率分布在两组间差异均无统计学意义（均为Ｐ＞０．０５）。构建８种单倍型，ＣＡⅡ基因在两组间的单倍型分布差异具有统计学意义（Ｐ＝０．０４２），ＴＡＣ单倍型携带者患ＰＯＡＧ风险显著降低［ＯＲ＝０．１４５、９５％ＣＩ＝（０．０２１～０．９８０），Ｐ＝０．０２２］。结论　ＣＡⅡ基因多态性与ＰＯＡＧ发病风险有相关性，ｒｓ１０５０４８１３位点的Ｔ等位基因可能是其保护性因素；ＴＡＣ单倍型携带者患ＰＯＡＧ风险显著降低。

Relationship between polymorphisms of carbonic anhydrase II gene and genetic predisposition of primary open angle glaucoma

Objective To explore the relationship between polymorphisms of carbonic anhydrase II ( CA II ) gene and genetic predisposition of primary open angle glaucoma( POAG) . Methods Venous blood samples were obtained from 81 patients with POAG ( POAG group) and 60 health people ( control group) . The polymorphisms distribution of CA II gene in all the subjects was detected by PCR-restriction fragment length polymorphisms ( RFLP) . Results There was statistical difference in gene frequencies of T allele of rs10504813 loci between POAG group and control group X2 = 4. 040 .P = 0. 04 . OR = 0. 613.95% CI = ( 0. 380 - 0. 989) ] ; The genotype frequency distributions was not significantly different between the two groups ( P = 0. 133 ) . The distributions of genotype frequencies and alleles frequencies was not sigruficantly different between the two groups ( all P > 0. 05 ) . 8 haplotypes were constructed through haplotype analysis,there was significant association in CA II gene haplotypes distribution between the two groups (P = 0. 042 ) , people with TAC haplotype were significantly associated with reduced risks of POAG OR = 0. 145 ,95% CI = ( 0. 021 - 0. 980) , P = 0. 022 ] . Coriclrision The polymorphisms of CA II gene is related to the risk of POAG. The T allele of rs10504813 may be the protective factor. People with TAC haplotype is significantly associated with reduced risks of POAG.