摘要
目的 探讨 6 个指骨发育相关基因,即成纤维细胞生长因子受体 2(FGFR2)、印度刺猬信号分子(IHH)、Msh同源盒 1(MSX1)、Runx家族转录因子 2(RUNX2)、SRY盒转录因子 9(SOX9)及 Wnt家族成员 5A(WNT5A)13 个位点单核苷酸多态性(SNP)与人类示-环指长比(2D∶4D)的关联性.方法 采用数码相机拍摄宁夏地区 731 名在校大学生(男性 358 名,女性 373 名)手部正面照片,采用GraphPad Prism 8.0 图像分析软件标记解剖点并测量示(2)指及环(4)指指长;多重PCR法进行 6 个基因 13 个SNP位点(rs1047057、rs755793、rs41258305、rs3731881、rs3100776、rs12532、rs3821949、rs45585135、rs3749863、rs1042667、rs12601701、rs1829556 和rs3732750)的基因分型;单因素方差分析或独立样本t检验间接评估 2D∶4D与 13 个SNP位点间的关联性.结果 宁夏大学生女性左手和右手 2D∶4D均显著高于男性(均P<0.01);13 个SNP位点基因型、等位基因频率在不同性别间的差异均无显著统计学意义(均P>0.05);不同性别中,男性左手 2D∶4D与SOX9 基因rs12601701 位点基因型显著关联(P<0.05),右手 2D∶4D与WNT5A基因rs1829556 位点基因型显著关联(P<0.05);女性右手2D∶4D与MSX1 基因rs12532(P<0.01)和rs3821949(P<0.05)位点基因型显著关联.结论 SOX9(rs12601701)、WNT5A(rs1829556)、MSX1(rs12532 和rs3821949)基因多态性可能与宁夏地区人群 2D∶4D的形成有关.
Abstract
Objective To investigate the association of 13 single nucleotide polymorphism(SNP)sites in 6 phalange-bone development related genes[fibroblast growth factor receptor 2(FGFR2),indian hedgehog signaling molecule(IHH),Msh homeobox 1(MSX1),Runx family transcription factor 2(RUNX2),SRY-box transcription factor 9(SOX9),Wnt family member 5A(WNT5A)]with human index-ring finger length ratio(2D∶4D).Methods Digital cameras were used to take frontal photographs of the hands of 731 college students(358 males and 373 females)in Ningxia,and image analysis software was used to mark anatomical points and measure finger lengths of index(2th)and ring(4th);genotyping of 13 SNP sites(rs1047057,rs755793,rs41258305,rs3731881,rs3100776,rs12532,rs3821949,rs45585135,rs3749863,rs1042667,rs12601701,rs1829556,rs3732750)for 6 genes by multiplex PCR;One-Way ANOVA or independent sample t-test indirectly assessed the association between 2D∶4D and 13 SNP sites.Results Both left and right hand 2D∶4D were significantly higher in females than males in Ningxia college students(all P<0.01);no statistically significant differences in genotype and allele frequencies of the 13 SNP sites among different sexes(all P>0.05);among different sexes,male left hand 2D∶4D was significantly associated with the genotype of SOX9 gene rs12601701 site(P<0.05)and right hand 2D∶4D was significantly associated with the genotype of WNT5A gene rs1829556 site(P<0.05);the female right hand 2D∶4D was significantly associated with the MSX1 gene rs12532(P<0.01)and rs3821949(P<0.05)sites genotypes.Conclusion SOX9(rs12601701),WNT5A(rs1829556)and MSX1(rs12532 and rs3821949)gene polymorphisms may be associated with the formation of 2D∶4D in Ningxia population.
维普
万方数据