中华风湿病学杂志
中華風濕病學雜誌
중화풍습병학잡지
CHINESE JOURNAL OF RHEUMATOLOGY
2013年
2期
114-118,后插2
,共6页
游玉权%王清瑶%许超尘%杨会勇%李忆农
遊玉權%王清瑤%許超塵%楊會勇%李憶農
유옥권%왕청요%허초진%양회용%리억농
疾病易感性%多态性,单核苷酸%痛风
疾病易感性%多態性,單覈苷痠%痛風
질병역감성%다태성,단핵감산%통풍
Disease susceptibility%Polymorphism,single nucleotide%Gout
目的 探讨泉州地区群体的SLC2A9、SLC17A3、ABCG2基因单核苷酸多态性(SNP)与痛风易感性之间的关联.方法 选取154例痛风患者和160名健康对照者,应用三引物法对SLC2A9、SLC17A3、ABCG2基因上3个SNP进行检测,并利用x2检验分析不同基因型与原发性痛风发病的相关性,探讨痛风发病机制以及了解泉州地区痛风发病特征.结果 rs16890979高风险基因型携带频率在痛风人群和健康人群携带频率分别为93.5%和70.0%,差异具有统计学意义(x255.377,P<0.01);高风险等位基因携带频率分别为79.9%和48.4%,差异具有统计学意义(x2=67.182,P<0.01);rs2231142高风险基因型携带频率分别为68.8%和38.7%,差异具有统计学意义(x2=29.129,P<0.01);高风险等位基因携带频率分别为43.5%和23.4%,差异具有统计学意义(x2=28.468,P<0.01);rs1165205是一个保护性的SNP,低风险基因型携带频率分别为42.2%和45.6%,差异无统计学意义(x2=0.373,P=0.571);高风险等位基因携带频率分别为26.0%和28.1%,差异无统计学意义(x2=0.270,P=0.364).结论 SLC2A9、ABCG2基因SNP位点rs1165205和rs2231142可以作为泉州地区原发性痛风易感性一个遗传标志,而SLC 17A3基因的SNP(rs1165205)则与泉州地区原发性痛风发病的相关性不大.
目的 探討泉州地區群體的SLC2A9、SLC17A3、ABCG2基因單覈苷痠多態性(SNP)與痛風易感性之間的關聯.方法 選取154例痛風患者和160名健康對照者,應用三引物法對SLC2A9、SLC17A3、ABCG2基因上3箇SNP進行檢測,併利用x2檢驗分析不同基因型與原髮性痛風髮病的相關性,探討痛風髮病機製以及瞭解泉州地區痛風髮病特徵.結果 rs16890979高風險基因型攜帶頻率在痛風人群和健康人群攜帶頻率分彆為93.5%和70.0%,差異具有統計學意義(x255.377,P<0.01);高風險等位基因攜帶頻率分彆為79.9%和48.4%,差異具有統計學意義(x2=67.182,P<0.01);rs2231142高風險基因型攜帶頻率分彆為68.8%和38.7%,差異具有統計學意義(x2=29.129,P<0.01);高風險等位基因攜帶頻率分彆為43.5%和23.4%,差異具有統計學意義(x2=28.468,P<0.01);rs1165205是一箇保護性的SNP,低風險基因型攜帶頻率分彆為42.2%和45.6%,差異無統計學意義(x2=0.373,P=0.571);高風險等位基因攜帶頻率分彆為26.0%和28.1%,差異無統計學意義(x2=0.270,P=0.364).結論 SLC2A9、ABCG2基因SNP位點rs1165205和rs2231142可以作為泉州地區原髮性痛風易感性一箇遺傳標誌,而SLC 17A3基因的SNP(rs1165205)則與泉州地區原髮性痛風髮病的相關性不大.
목적 탐토천주지구군체적SLC2A9、SLC17A3、ABCG2기인단핵감산다태성(SNP)여통풍역감성지간적관련.방법 선취154례통풍환자화160명건강대조자,응용삼인물법대SLC2A9、SLC17A3、ABCG2기인상3개SNP진행검측,병이용x2검험분석불동기인형여원발성통풍발병적상관성,탐토통풍발병궤제이급료해천주지구통풍발병특정.결과 rs16890979고풍험기인형휴대빈솔재통풍인군화건강인군휴대빈솔분별위93.5%화70.0%,차이구유통계학의의(x255.377,P<0.01);고풍험등위기인휴대빈솔분별위79.9%화48.4%,차이구유통계학의의(x2=67.182,P<0.01);rs2231142고풍험기인형휴대빈솔분별위68.8%화38.7%,차이구유통계학의의(x2=29.129,P<0.01);고풍험등위기인휴대빈솔분별위43.5%화23.4%,차이구유통계학의의(x2=28.468,P<0.01);rs1165205시일개보호성적SNP,저풍험기인형휴대빈솔분별위42.2%화45.6%,차이무통계학의의(x2=0.373,P=0.571);고풍험등위기인휴대빈솔분별위26.0%화28.1%,차이무통계학의의(x2=0.270,P=0.364).결론 SLC2A9、ABCG2기인SNP위점rs1165205화rs2231142가이작위천주지구원발성통풍역감성일개유전표지,이SLC 17A3기인적SNP(rs1165205)칙여천주지구원발성통풍발병적상관성불대.
Objective To explore the association between SLC2A9,SLC17A3,ABCG2 single nucleotide polymorphisms and gout susceptibility in Quanzhou.Methods One hundred and fifty-four cases of gout patients and 160 healthy controls were selected,single nucleotide polymorphisms (SNP) of SLC2A9 SLC17A3,ABCG2 with tri-primer polymerase chain reaction (PCR) were tested and the relation between different genotypes and primary gout prevalence were analyzed.Results High risk genotype frequency of rs16890979 was 93.5% and 70.0% in patients and healthy people,respectively (the difference of genotype frequency between the two groups was statistically significant (x2=55.377,P<0.01).High risk allele frequency was 79.9% and 48.4% in patients and healthy people,respectively (allele frequency in different population was statistically significant,x2=67.128,P<0.01).High risk genotype frequency of rs2231142 was 68.8% and 38.7% in patients and healthy people,respectively (the difference of the genotype frequency was statistically significant,x2=29.129,P<0.01);High risk allele frequency was 43.5% and 23.4% in patients and healthy people,respectively (the difference of allele frequency was statistically significant,x2=28.468,P<0.01) ; rs1165205was a protective SNP,low risk genotype frequency was 42.2% and 45.6% in patients and healthy people,respectively (the difference of genotype frequency was statistically significant,x2=0.373,P=0.571); High risk allele frequency was 26.0% and 28.1% in patients and healthy people,respectively (the difference of allele frequency was not statistically significant,x2=0.270,P=0.364).Conclusion SNP loci rs16890979 of SLC2A9 gene and rs2231142 of ABCG2 gene can be used as genetic markers for primary gout susceptibility in the Quanzhou area,but SNP loci rs1165205 of SLC17A3 gene has little correlation with the prevalence of primary gout in Quanzhou residents.