Study On Single Nucleotide Polymorphisms And Gene Expression Related To Sports

This study is focus on Single Nucleotide Polymorphisms and gene expression of the genes that related to sports.The association between Single Nucleotide Polymorphisms and the clinical biochemistry indexes is also been analyzed.Part one:The establishment of high throughput detecting the Single Nucleotide Polymorphisms and the association between Single Nucleotide Polymorphisms of the genes that related to sports and the clinical biochemistry indexes.Subjects:856 athletes(495 males,361 females) and 284 controls(161 males, 123 females)Method:Using micro array and single base extension reaction,48 SNP loci were genotyoed.The case-control study was used to analyze the polymorphisms characteristic between athletes and control.These SNP loci were located in ACE(rs4362,rs4461142),CKMM(rs1133190,rs4884),ADRB2(rs1042718, rs1042713),ADRA2A(rs3750625,rs553668),GDF8(rs3791783),CNTF (rs2515362),HLA-A(rs3823342),PLCG1(rs206699),KCNA4(rs1323860), CASQ1(rs617698,rs3747621),CFTR(rs4148724),PPARGC1A(rs768695), AMPD1(rs2268701),ACTN3(rs540874,rs1791690),IL6(rs2069837), BDKRB2(rs2069578,rs4900313,rs4900315),IGF-1(rs972936,rs7956547), IGF-2(rs734351),UCP2(rs660339),LEPR(rs12037879,rs12029311),FABP2 (rs4834771,rs11935130),LEP(rs12706832,rs11761556),NOS3(rs3918188, rs7830),RAD1(rs37436),MYLK(rs820325,rs1350152),TNF(rs3093661), CNTFR(rs1571401,rs6476455),COL1A1(rs2586488,rs2696247)and VDR (rs4334089,rs7971418,rs4760648,2189480) genes.The association between gene polymorphisms and the clinical biochemistry indexes was also statistical analyzed.Results:(1)The method of high throughput detecting the Single Nucleotide Polymorphisms was established.(2)Between all athletes and control,the gene frequency of rs3750625,rs2515362,rs12029311 and rs1042713 has statistical difference and the allele frequency of rs3750625,rs6476455,rs2515362 and rs1042713 has statistical difference.(3)Between different event-groups and control:①Between athletes that belong to speed-power group and control,the gene frequency of rs972936,rs660339,rs1042718,rs11935130 and rs12029311 has statistical difference;the allele frequency of rs660339,rs11761556,rs768695,rs 11935130 and rs12037879 has statistical difference.②Between athletes that belong to endurance event group and control,the gene frequency of rs7830,rs3750625,rs3823342,rs4760648,rs2515362 and rs1042713 has statistical difference;the allele frequency of rs7830,rs972936,rs3750625,rs2515362,rs11935130 and rs1042713 has statistical difference.③Between athletes that belong to hard and beautiful event group and control,the gene frequency of rs3750625,rs6476455,rs2515362 and rs1042713 has statistical difference;the allele frequency of rs3750625,rs6476455,rs2515362 and rs1042713 has statistical difference.④Between athletes that belong to skill event group and control,the gene frequency of rs540874,rs660339,rs4334089,rs1042718,rs4760648,rs2515362,rs11935130,rs1323860 and rs12029311 has statistical difference;the allele frequency of rs540874,rs1042718,rs4760648,rs2515362,rs2268701,rs11935130,rs1323860 and rs12037879 has statistical difference.⑤Between athletes that belong to net separated competition event group and control,the gene frequency of rs12029311 has statistical difference;the allele frequency of rs972936 and rs12029311 has statistical difference.⑥Between athletes that belong to antagonistic event related group and control,the gene frequency of rs4461142,rs2069578 and rs12029311 has statistical difference;the allele frequency of rs6476455,rs2069578 and rs12029311 has statistical difference.⑦Between athletes that belong to fighting event group and control,the gene frequency of rs3750625,rs2268701 and rs1042713 has statistical difference;the allele frequency of rs820325,rs972936,rs3750625,rs2268701 and rs1042713 has statistical difference.⑧Between athletes that belong to integrated event group and control,the gene frequency of rs3750625,rs540874,rs4760648 and rs2268701 has statistical difference;the allele frequency of rs3750625,rs540874,rs4760648 and rs1323860 has statistical difference.(4)The clinical biochemistry indexes of all athletes are almost related to the athletes gender.So we respectively analyze the association of genotype and biochemistry indexes.But some statistical results are same between two gender:①The three genotypes of rs3750625 has statistical significance with Ast,Tp,K,CO2,Ca,Fe,Cr,UN and Alp.②The three genotypes of rs4148724 are related with the CO2 results.③The three genotypes of rs540874 and rs4461142 has statistical significance with CK.The most statistical association between genotype and biochemistry indexes are different between two genders.Part two:The establishment of High throughput detecting the gene expression and the gene expression of genes that related to sports.Subjects:182 athletes(92 males and 90 females) and 21 controls(10 males and 11 females)Method:The main equipment is the GeXp system of Beckman.After RT-PCR and PCR reaction the product is separated with capillary electrophoresis. We detect the gene expression of TGFB1,PLCG1,HP,HIF1A,CNTF,ADRB2, LEPR,UCP2,TNF,RAD1 and IGF1.With corralation analysis the better reference genes were found.Then analyze the gene expression of athletes and controls.Results:(1)In the system there are four reference genes.After corralation analysis the reference genes HD1,GAPDH and 18s-rRNA are better.So these three genes are used to analyze the samples.(2)Between athletes and controls the relative genes expression of TNF,CNTF,IGF1,TGFB1 and HIF1A has statistical significance,and the result of athletes group is higher than control group.The relative genes expression is not same between different event-group and control group.①Between athletes that belong to hard and beautiful event group and control,the gene expression of CNTF,IGF1,HIF1A and PLCG1 has statistical difference.②Between athletes that belong to fighting event group and control,the gene expression of IGF1,HIF1A,PLCG1,RAD1 and HP has statistical differenee.③Between athletes that belong to antagonistic event group and control,the gene expression of HIF1A,LEPR,UCP2 ad UP has statistical difference.④Between athletes that belong to skill event group and control,the gene expression of TNF,TGFB1,LEPR,UCP2 and HP has statistical difference.⑤Between athletes that belong to endurance event group and control,the gene expression of TNF,CNTF,TGFB1,HIF1A,PLCG1 and UCP2 has statistical difference.⑥Between athletes that belong to integrated event group and control,the gene expression of CNTF,TGFB1,HIF1A,PLCG1 and HP has statistical difference.