钙蛋白酶10基因多态性与妊娠期糖代谢异常的关系  

Association of the calpain-10 gene polymorphism with glucose metabolism disorder in pregnant women

作　　者：武海荣[1] 杨慧霞[1] 

机构地区：[1]北京大学第一医院妇产科,100034

出　　处：《中华妇产科杂志》2009年第3期183-187,共5页Chinese Journal of Obstetrics and Gynecology

摘　　要：目的探讨孕妇钙蛋白酶10基因单核苷酸多态性（SNP）43、SNP-19和SNP-63与妊娠期糖代谢异常发生风险之间的关系。方法选择2005年1月至2006年12月在北京大学第一医院分娩的156例妊娠期糖代谢异常患者（妊娠期糖代谢异常组）和114例孕周匹配的健康孕妇（对照组），应用引物引入限制性内切酶分析-聚合酶链反应方法检测两组孕妇钙蛋白酶10基因SNP-43、SNP-19和SNP-63的基因型。结果（1）在妊娠期糖代谢异常组中，钙蛋白酶10基因SNP-19的基因型2R／2R频率（26．9％，42／156）和等位基因2R频率（48．9％，152／312）明显高于对照组[分别为12．3％（14／114）和36．8％（84／228）]，分别比较，差异均有统计学意义（P=0．012，P=0．006）。（2）根据有无糖尿病家族史分层分析发现，在家族史阳性的妊娠期糖代谢异常组中SNP-19基因型2R／2R＋2R／3R分布占83％（47／57），明显高于对照组的52％（11／21，P=0．009），SNP-63基因型T／T＋T／C分布占47％（27／57），明显高于对照组的14％（3／21，P=0．026）。（3）对SNP-43、SNP-19和SNP-63位点进行单体型分析，发现在妊娠期糖代谢异常组中单体型121所占的比例明显高于对照组（P=0．036），而单体型221所占的比例明显低于对照组（P=0．042）。结论（1）钙蛋白酶10基因SNP-19多态性与妊娠期糖代谢异常有关，2R等位基因可能是妊娠期糖代谢异常发生的高危因素。SNP-19的基因型2R／2R＋2R／3R和SNP-63的基因型T／T＋T／C可增加糖尿病家族史阳性个体妊娠期糖代谢异常的发生风险，而不影响家族史阴性个体的发病风险。（2）钙蛋白酶10基因SNP-43、SNP-19和SNP-63组成的单体型121可能是妊娠期糖代谢异常发生的高危因素，单体型221可能是其保护因素。Objective To study three single nucleotide polymorphisms （SNP）, SNP-43, -19 and - 63 of calpain-10 （CAPN10） gene in pregnant women with glucose metabolism disorders and their relationship with the risk of these disorders. Methods Totally, 270 pregnant women including 156 with an abnormal oral glucose tolerance test （ study group） and t 14 healthy controls were selected among those delivered at the Department of Obstetrics and Gynecology, Peking University First Hospital from Jan. 2005 to Dec. 2006. The SNP of CAPN10 gene at positions 43, 19, and 63 were analyzed by primer-introduced restriction analysis-polymerase chain reaction （ PIRA-PCR ） . Results （ 1 ） The frequencies CAPNIO SNP-19 2R/2R genotype （26. 9% ,42/156） and 2R allele （48.9% , 152/312） were higher than those in controls （12. 3% ,14/114 and 36. 8% ,84/228, respectively; P =0. 012, 0. 006）. （2） Stratified analysis according to family history of diabetes mellitus showed the proportion of the CAPN10 SNP-19 2R/2R ＋ 2R/ 3R genotypes （83% ,47/57 ） in the study group were significantly higher than that of control group （52%, 11/21 ; P =0. 009）, and the proportion of SNP-63 T/T ＋ T/C genotypes（47% ,27/57） in study group were significantly higher than that of control group （ 14% , 3/21 ; P = 0. 026 ） among those with positive family history. （3） The combined effect of CAPN10 SNP43, -19 and -63 on glucose metabolism disorders was analyzed by comparing with the other haplotypes and showed that the haplotype 121 distribution in study group was significantly higher than those in controls（ P = 0. 036）, and 221 haplotype was significantly lower than controls （ P = 0. 042 ）. Conclusions （ 1 ） CAPN10 SNP-19 is associated with glucose metabolism disorders in pregnant women. And 2R allele might be the risk factor. CAPN10 SNP-19 2R/2R ＋ 2R/3R and SNP-63 T/T ＋ T/C genotypes might increase the risk of glucose metabolism disorders in women with positive family history. Haplotype 121 might increase

关 键 词：妊娠并发症 葡萄糖代谢障碍 卡配因 多态性 单核苷酸 

分 类 号：R686[医药卫生—骨科学]