中华结核和呼吸杂志
中華結覈和呼吸雜誌
중화결핵화호흡잡지
Chinese Journal of Tuberculosis and Respiratory Diseases
2013年
12期
935-939
,共5页
任家庭%冯凯%王萍%彭文鸿%贾海英%刘魁%路浩军
任傢庭%馮凱%王萍%彭文鴻%賈海英%劉魁%路浩軍
임가정%풍개%왕평%팽문홍%가해영%류괴%로호군
肺疾病,慢性阻塞性%成纤维细胞生长因子10%多态性,单核苷酸
肺疾病,慢性阻塞性%成纖維細胞生長因子10%多態性,單覈苷痠
폐질병,만성조새성%성섬유세포생장인자10%다태성,단핵감산
Pulmonary disease,chronic obstructive%Fibroblast growth factor 10%Polymorphism,single nucleotide
目的 成纤维细胞生长因子10(FGF10)信号通路是肺发育和肺上皮重建的关键因素,本研究探讨FGF10基因多态性与中国北方汉族慢性阻塞性肺疾病(简称慢阻肺)患者的遗传易感性和疾病严重程度的关系.方法 研究对象为2007年6月至2012年5月因慢阻肺急性加重收住解放军第三○六医院呼吸科的220例患者(慢阻肺组)和同期该院健康体检者285名(对照组).慢阻肺组中男142例,女78例;年龄43 ~93岁,平均(74±10)岁.对照组中男183名,女102名;年龄44~97岁,平均(72±9)岁.根据肺功能结果将慢阻肺患者分为轻度(8例)、中度(62例)、重度(48例)和极重度组(102例).应用PCR-限制性片段长度多态性法和微测序(SnaPshot)技术法检测FGF10基因单核苷酸多态性位点(rs10473352、rs16873956、rs2973644、rs1011814、rs10402070和rs723166)的基因型分布频率.采用x2检验进行Hardy-Weinberg平衡检验,采用非条件logistic回归模型计算OR值和95% CI,两组间比较采用t检验.结果 慢阻肺组及对照组rs2973644位点AA、GA和GG基因型频率分别为108/220、92/220和20/220及167/285、104/285和14/285,其等位基因A、G频率分别为308/440、132/440及438/570、132/570;rs10473352位点TT、TC和CC基因型频率分别为142/220、72/220和6/220及202/285、82/285和1/285,差异均有统计学意义(x2值为6.021 ~6.213,均P<0.05).m10473352位点等位基因T、C频率分别为356/440、84/440和486/570、84/570,差异无统计学意义(x2=3.395,P>0.05).慢阻肺轻度、中度组及重度、极重度组rs1011814位点TT、TC和CC频率分别为16/68、39/68和13/68及29/150、67/150和54/150,其等位基因T、C频率分别为71/136、65/136和125/300、175/300,差异均有统计学意义(x2值分别为6.287和4.200,均P<0.05).其余5个tSNP(rs10473352、rs16873956、rs2973644、rs10402070和rs723166)基因型频率和等位基因频率分布的差异均无统计学意义(OR值为0.606 ~1.357,均P>0.05).结论 FGF10基因rs2973644和rs10473352多态性位点可能与中国北方汉族慢阻肺患者易感性相关,rs1011814多态性位点与慢阻肺的严重程度相关.
目的 成纖維細胞生長因子10(FGF10)信號通路是肺髮育和肺上皮重建的關鍵因素,本研究探討FGF10基因多態性與中國北方漢族慢性阻塞性肺疾病(簡稱慢阻肺)患者的遺傳易感性和疾病嚴重程度的關繫.方法 研究對象為2007年6月至2012年5月因慢阻肺急性加重收住解放軍第三○六醫院呼吸科的220例患者(慢阻肺組)和同期該院健康體檢者285名(對照組).慢阻肺組中男142例,女78例;年齡43 ~93歲,平均(74±10)歲.對照組中男183名,女102名;年齡44~97歲,平均(72±9)歲.根據肺功能結果將慢阻肺患者分為輕度(8例)、中度(62例)、重度(48例)和極重度組(102例).應用PCR-限製性片段長度多態性法和微測序(SnaPshot)技術法檢測FGF10基因單覈苷痠多態性位點(rs10473352、rs16873956、rs2973644、rs1011814、rs10402070和rs723166)的基因型分佈頻率.採用x2檢驗進行Hardy-Weinberg平衡檢驗,採用非條件logistic迴歸模型計算OR值和95% CI,兩組間比較採用t檢驗.結果 慢阻肺組及對照組rs2973644位點AA、GA和GG基因型頻率分彆為108/220、92/220和20/220及167/285、104/285和14/285,其等位基因A、G頻率分彆為308/440、132/440及438/570、132/570;rs10473352位點TT、TC和CC基因型頻率分彆為142/220、72/220和6/220及202/285、82/285和1/285,差異均有統計學意義(x2值為6.021 ~6.213,均P<0.05).m10473352位點等位基因T、C頻率分彆為356/440、84/440和486/570、84/570,差異無統計學意義(x2=3.395,P>0.05).慢阻肺輕度、中度組及重度、極重度組rs1011814位點TT、TC和CC頻率分彆為16/68、39/68和13/68及29/150、67/150和54/150,其等位基因T、C頻率分彆為71/136、65/136和125/300、175/300,差異均有統計學意義(x2值分彆為6.287和4.200,均P<0.05).其餘5箇tSNP(rs10473352、rs16873956、rs2973644、rs10402070和rs723166)基因型頻率和等位基因頻率分佈的差異均無統計學意義(OR值為0.606 ~1.357,均P>0.05).結論 FGF10基因rs2973644和rs10473352多態性位點可能與中國北方漢族慢阻肺患者易感性相關,rs1011814多態性位點與慢阻肺的嚴重程度相關.
목적 성섬유세포생장인자10(FGF10)신호통로시폐발육화폐상피중건적관건인소,본연구탐토FGF10기인다태성여중국북방한족만성조새성폐질병(간칭만조폐)환자적유전역감성화질병엄중정도적관계.방법 연구대상위2007년6월지2012년5월인만조폐급성가중수주해방군제삼○륙의원호흡과적220례환자(만조폐조)화동기해원건강체검자285명(대조조).만조폐조중남142례,녀78례;년령43 ~93세,평균(74±10)세.대조조중남183명,녀102명;년령44~97세,평균(72±9)세.근거폐공능결과장만조폐환자분위경도(8례)、중도(62례)、중도(48례)화겁중도조(102례).응용PCR-한제성편단장도다태성법화미측서(SnaPshot)기술법검측FGF10기인단핵감산다태성위점(rs10473352、rs16873956、rs2973644、rs1011814、rs10402070화rs723166)적기인형분포빈솔.채용x2검험진행Hardy-Weinberg평형검험,채용비조건logistic회귀모형계산OR치화95% CI,량조간비교채용t검험.결과 만조폐조급대조조rs2973644위점AA、GA화GG기인형빈솔분별위108/220、92/220화20/220급167/285、104/285화14/285,기등위기인A、G빈솔분별위308/440、132/440급438/570、132/570;rs10473352위점TT、TC화CC기인형빈솔분별위142/220、72/220화6/220급202/285、82/285화1/285,차이균유통계학의의(x2치위6.021 ~6.213,균P<0.05).m10473352위점등위기인T、C빈솔분별위356/440、84/440화486/570、84/570,차이무통계학의의(x2=3.395,P>0.05).만조폐경도、중도조급중도、겁중도조rs1011814위점TT、TC화CC빈솔분별위16/68、39/68화13/68급29/150、67/150화54/150,기등위기인T、C빈솔분별위71/136、65/136화125/300、175/300,차이균유통계학의의(x2치분별위6.287화4.200,균P<0.05).기여5개tSNP(rs10473352、rs16873956、rs2973644、rs10402070화rs723166)기인형빈솔화등위기인빈솔분포적차이균무통계학의의(OR치위0.606 ~1.357,균P>0.05).결론 FGF10기인rs2973644화rs10473352다태성위점가능여중국북방한족만조폐환자역감성상관,rs1011814다태성위점여만조폐적엄중정도상관.
Objective Fibroblast growth factor 10 (FGF 10) signaling pathway is crucial to lung development and epithelial reconstruction.The aim of this study was to investigate the relationship between gene polymorphisms in FGF 10 and susceptibility to chronic obstructive pulmonary disease (COPD) in a Han population of North China.Methods The subjects included 220 patients with COPD (COPD group) and 285 healthy controls (control group).The COPD patients,admitted to our hospital from June 2007 to May 2012 because of acute exacerbation,included 142 males and 78 females,aging from 43 to 93 years [mean (74 ± 10)].The control group included 183 males and 102 females,aging from 44 to 97 years [mean (72±9)].According to results of lung function testing,patients with COPD were divided into mild (8 cases),moderate (62 cases),and severe (48 cases) and very severe groups (102 cases).The genotype frequencies of FGF 10 gene single nucleotide polymorphisms (rs10473352,rs16873956,rs2973644,rs1011814,rs10402070 and rs723166) were genotyped by RFLP PCR-restriction fragment length polymorphism method and micro-sequencing (SnaPshot) technology assay.Chi-square test was used to perform the Hardy-Weinberg equilibrium test.Unconditional logistic of regression model was used to calculate odds ratio (OR) and 95% CI.The 2 groups were compared using t-test.Results The rs2973644 locus AA,GA and GG genotype frequencies in the COPD group and the control group were 108/220,92/220,20/220 and 167/285,104/285,14/285,respectively; while the frequencies of allele A and G were 308/440,132/440 and 438/570,132/570,respectively.The rs10473352 locus TT,TC and CC genotype frequencies in the COPD group and the control group were 142/220,72/220,6/220 and 202/285,82/285,1/285,respectively,the differences being statistically significant (x2 value were 6.021-6.213,P <0.05).The rs10473352 allele T and C frequencies were 356/440,84/440 and 486/570,84/570,respectively,the differences being not statistically significant (x2 =3.395,P > 0.05).The rs101 1814 locus TT,TC and CC frequencies in mild and moderate compared with severe and very severe COPD disease were 16/68,39/68,13/68 and 29/150,67/150,54/150,respectively; while its allele T,C frequencies were 71/136,65/136 and 125/300,175/300,respectively; the differences being statistically significant (x2 values were 6.287 and 4.200,all P < 0.05).The remaining 5 tSNP (rs10473352,rs16873956,rs2973644,rs10402070 and rs723166) genotype distribution and allele frequencies were not significantly different (OR value were 0.606-1.357,P > 0.05).Conclusions FGF 10 gene SNP sites rs2973644 and rs10473352 polymorphisms may be associated with susceptibility to COPD in Han population of North China.The SNP in rs1011814 may be associated with severity of COPD.