CAJ | 학술논문

目的：选择已在欧洲和亚洲人群中证实的与乳腺癌相关的基因多态性位点，进一步验证其在河南地区女性乳腺癌人群中的风险并分析其与乳腺癌内在分型的相关性。方法在253例乳腺癌病例组和343例乳腺良性病变对照组人群中，采用imLDR技术对rs2046210（6q25.1）、rs2981582（EGFR2）、rs889312（MAP3K1）、rs3803662（TOX3／TNRC9）进行基因分型。据雌激素受体（estrogen receptor，ER）、孕激素受体（progesterone receptor，PR）、人类表皮生长因子受体2（human epidermal growth factor receptor 2， HER2）、增殖指数Ki67的表达将乳腺癌分为5型：Luminal A、Luminal B、HER2-enrich、Luminal HER2、三阴性乳腺癌（triple negative breast cancer，TNBC）。结果 rs2046210（6q25.1）、rs2981582（EGFR2）、rs889312（MAP3K1）3个位点不同的基因型在病例组与对照组中的分布差异无统计学意义（ P值分别为：0.421，0.459，0.468），而rs3803662（TOX3／TNRC9））不同的基因型在病例组与对照组中的分布差异有统计学意义（P＝0.037）。在共显性遗传模型（OR＝2.19，95％CI：1.19～4.02）及隐性遗传模型（OR＝2.06，95％CI：1.15～3.70）中，与AA、GA相比，GG增加了乳腺癌的患病风险（ P值分别为：0.012，0.015）。 rs2046210（6q25.1）、rs2981582（EGFR2）、rs889312（MAP3K1）、rs3803662（TOX3／TNRC9）的不同等位基因型在不同的乳腺癌分型中没有区别。结论来自于GWAS的4个位点并没有完全被证实与河南地区的女性乳腺癌发病风险相关，仅有rs3803662（TOX3／TNRC9）与河南地区女性乳腺癌的发病风险相关。4个位点的不同基因型在乳腺癌的各种分型中分布没有差别。
목적：선택이재구주화아주인군중증실적여유선암상관적기인다태성위점，진일보험증기재하남지구녀성유선암인군중적풍험병분석기여유선암내재분형적상관성。방법재253례유선암병례조화343례유선량성병변대조조인군중，채용imLDR기술대rs2046210（6q25.1）、rs2981582（EGFR2）、rs889312（MAP3K1）、rs3803662（TOX3／TNRC9）진행기인분형。거자격소수체（estrogen receptor，ER）、잉격소수체（progesterone receptor，PR）、인류표피생장인자수체2（human epidermal growth factor receptor 2， HER2）、증식지수Ki67적표체장유선암분위5형：Luminal A、Luminal B、HER2-enrich、Luminal HER2、삼음성유선암（triple negative breast cancer，TNBC）。결과 rs2046210（6q25.1）、rs2981582（EGFR2）、rs889312（MAP3K1）3개위점불동적기인형재병례조여대조조중적분포차이무통계학의의（ P치분별위：0.421，0.459，0.468），이rs3803662（TOX3／TNRC9））불동적기인형재병례조여대조조중적분포차이유통계학의의（P＝0.037）。재공현성유전모형（OR＝2.19，95％CI：1.19～4.02）급은성유전모형（OR＝2.06，95％CI：1.15～3.70）중，여AA、GA상비，GG증가료유선암적환병풍험（ P치분별위：0.012，0.015）。 rs2046210（6q25.1）、rs2981582（EGFR2）、rs889312（MAP3K1）、rs3803662（TOX3／TNRC9）적불동등위기인형재불동적유선암분형중몰유구별。결론래자우GWAS적4개위점병몰유완전피증실여하남지구적녀성유선암발병풍험상관，부유rs3803662（TOX3／TNRC9）여하남지구녀성유선암적발병풍험상관。4개위점적불동기인형재유선암적각충분형중분포몰유차별。
Objective To verify the association between common breast cancer susceptibility loci which have been confirmed in European and Asian populations and breast cancer susceptibility in sporadic breast cancer among the Han nationality in Henan province , and to analyze their genotypes in the internal type of breast cancer . Methods In 253 breast cancer patients ( the case group ) and 343 patients who had benign breast lesions ( the control group), rs2046210(6q25.1), rs2981582(EGFR2), rs889312(MAP3K1), and rs3803662(TOX3/TNRC9)were genotyped by SNP im-LDR technique.According to estrogen receptor(ER), progesterone receptor (PR), human epidermal growth factor receptor 2(HER2)and Ki67, breast cancer are divided into 5 types:Lu-minal A, Luminal B, HER2-enrich, Luminal HER2, and triple negative breast cancer ( TNBC).Results rs2046210(6q25.1), rs2981582(EGFR2), rs889312(MAP3K1)had no statistical differences between the case group and the control group(P=0.421, 0.459, and 0.468), but the genotype of rs3803662(TOX3/TNRC9)in the case group and the control group had statistical difference (P=0.037).The allelic frequencies of rs3803662 between the case group and control group were different in codominant inheritance ( OR=2.19, 95%CI:1.19-4.02)and recessive genetic models (OR =2.06,95% CI:1.15 -3.70).Compared with AA and GA, GG in-creased the risk of breast cancer ( P =0.012, 0.015 ).The genotypes of rs2046210 ( 6q25.1 ), rs2981582 (EGFR2), rs889312(MAP3K1), and rs3803662(TOX3/TNRC9)had no difference in different types of breast cancer.Conclusions Four common breast cancer susceptibility loci from GWAS are not entirely associated with breast cancer risk among the Han nationality in Henan province .Only rs3803662(TOX3/TNRC9)is confirmed to increase the risk of breast cancer .Different genotypes of 4 loci distribute equally in different types of breast cancer .