Tissue expression,association analysis between three novel SNPs of the RXRαgene and growth traits in Chinese indigenous cattle

Retinoid X receptor(RXR) α is a member of the nuclear hormone receptor superfamily that mediates the biological effects on several hormones,vitamins,and regulates lipid,glucose and energy metabolism.In this study,the tissue expression profiles of the bovine RXRαgene and association analysis of single nucleotide polymorphisms(SNPs) with growth traits were carried out in 413 Chinese native cattle.The expression profile was analysed in ten Jiaxian cattle tissues by real-time PCR,and the results showed that RXRαgene was abundantly expressed in adipose tissue and spleen,moderately expressed in heart,liver,lung,kidney,muscle and testis.Meanwhile,three SNPs(T27919A,T28139C and G28142A) and five haplotypes were identified.Haplotype with TTG was dominant with frequency of 69.1%.Chi-square test showed all populations were in Hardy-Weinberg equilibrium(P>0.05) at the three sites except Jiaxian cattle at G28142A site and Qinchuan cattle at T27919A site.Statistical analysis of combined sites showed that the individuals with TTGA genotype had significantly higher heart girth than those with TAGG genotype(P<0.05) and the animals with AAGA genotype had higher body weight than those with TAGG genotype(P<0.05) in T27919A-G28142A site.Heart girth,abdominal circumference and body weight of individuals with TCAG genotype were exceedingly higher than those with TTGG(P<0.01),TTGA and TCGG(P<0.05) in T28139C-G28142A site.For T27919A-T28139C site,the individuals of TCTA and TCTT genotype had significantly higher heart girth and lower height at hip cross than those with TTTA(P<0.05),and the body weight of TCAA and TCTT genotype individuals was higher than those with TTTA(P<0.05).In conclusion,these results provided evidence that the polymorphisms of RXRαgene were associated with growth traits and might apply to Chinese indigenous yellow cattle breeding program as a possible candidate for marker-assisted selection(MAS).

广东省汉族人群RXRA基因rs11185660位点单核苷酸多态性与2型糖尿病遗传易感性关系

目的了解广东省汉族人群RXRA基因rs11185660位点的单核苷酸多态性(SNP)与2型糖尿病(T2DM遗传易感性的关系,为中国汉族人群T2DM发病的分子机制提供科学依据。方法采用病例对照研究方法,对2011年11月—2013年10月在广东省10家医院内分泌科招募的1 092例20~70岁T2DM患者和同期在医院体检且按地区和年龄匹配的1 092名20~70岁健康人群进行问卷调查、体格检查和RXRA rs11185660位点基因型检测。结果病例组T2DM患者和对照组健康人群中RXRA rs11185660位点T、C等位基因频率分别为83.2%、16.8%和83.3%、16.7%,TT、TC、CC基因型频率分别为69.0%、28.4%、2.6%和68.8%、29.1%、2.1%,2组等位基因频率和基因型频率分布差异均无统计学意义(均P> 0.05);在调整年龄、体质指数、性别前后,病例组和对照组RXRA基因rs11185660位点共显性、显性、隐性和超显性遗传模型间差异均无统计学意义(均P>0.05)。结论广东省汉族人群RXRA基因rs11185660位点SNP与T2DM患者遗传易感性不存在明显相关性。