Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54
We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chi...
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| Published in | Nature genetics Vol. 42; no. 9; pp. 759 - 763 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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New York, NY
Nature Publishing Group
01.09.2010
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| Abstract | We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chinese Han descent and 303 cases of ESCC and 537 control subjects of Chinese Uygur-Kazakh descent. We identified two previously unknown susceptibility loci for ESCC: PLCE1 at 10q23 (P(Han combined for ESCC) = 7.46 x 10(-56), odds ratio (OR) = 1.43; P(Uygur-Kazakh for ESCC) = 5.70 x 10(-4), OR = 1.53) and C20orf54 at 20p13 (P(Han combined for ESCC) = 1.21 x 10(-11), OR = 0.86; P(Uygur-Kazakh for ESCC) = 7.88 x 10(-3), OR = 0.66). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma cases and the same 11,013 control subjects (PLCE1, P(Han for GCA) = 1.74 x 10(-39), OR = 1.55 and C20orf54, P(Han for GCA) = 3.02 x 10(-3), OR = 0.91). PLCE1 and C20orf54 have important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis. C20orf54 is responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for ESCC and GCA. |
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| AbstractList | We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chinese Han descent and 303 cases of ESCC and 537 control subjects of Chinese Uygur-Kazakh descent. We identified two previously unknown susceptibility loci for ESCC: PLCE1 at 10q23 (P sub(Han combined for ESCC) = 7.46 10 super(-56), odds ratio (OR) = 1.43; P sub(Uygur-Kazakh for ESCC) = 5.70 10 super(-4), OR = 1.53) and C20orf54 at 20p13 (P sub(Han combined for ESCC) = 1.21 10 super(-11), OR = 0.86; P sub(Uygur-Kazakh for ESCC) = 7.88 10 super(-3), OR = 0.66). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma cases and the same 11,013 control subjects (PLCE1, P sub(Han for GCA) = 1.74 10 super(-39), OR = 1.55 and C20orf54, P sub(Han for GCA) = 3.02 10 super(-3), OR = 0.91). PLCE1 and C20orf54 have important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis. C20orf54 is responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for ESCC and GCA. We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chinese Han descent and 303 cases of ESCC and 537 control subjects of Chinese Uygur-Kazakh descent. We identified two previously unknown susceptibility loci for ESCC: PLCE1 at 10q23 (P(Han combined for ESCC) = 7.46 x 10(-56), odds ratio (OR) = 1.43; P(Uygur-Kazakh for ESCC) = 5.70 x 10(-4), OR = 1.53) and C20orf54 at 20p13 (P(Han combined for ESCC) = 1.21 x 10(-11), OR = 0.86; P(Uygur-Kazakh for ESCC) = 7.88 x 10(-3), OR = 0.66). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma cases and the same 11,013 control subjects (PLCE1, P(Han for GCA) = 1.74 x 10(-39), OR = 1.55 and C20orf54, P(Han for GCA) = 3.02 x 10(-3), OR = 0.91). PLCE1 and C20orf54 have important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis. C20orf54 is responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for ESCC and GCA. We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chinese Han descent and 303 cases of ESCC and 537 control subjects of Chinese Uygur-Kazakh descent. We identified two previously unknown susceptibility loci for ESCC: PLCE1 at 1 0q23 ([P.sub.Han combined for ESCC] = 7.46 x [10.sup.-56], odds ratio (OR) = 1.43; [P.sub.Uygur-Kazakh for ESCC] = 5.70 x [10.sup.-4], OR = 1.53) and C20orf54 at 20p13 ([P.sub.Han combined for ESCC] = 1.21 X [10.sup.-11], OR = 0.86; [P.sub.Uygur-Kazakh for ESCC] = 7.88 x [10.sup.-3], OR = 0.66). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma cases and the same 11,013 control subjects (PLCE1, [P.sub.Han for GCA] = 1.74 x [10.sup.-39], OR = 1.55 and C20orf54, [P.sub.Han for GCA] = 3.02 x [10.sup.-3], OR = 0.91). PLCE1 and C20orf54 have important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis. C20orf54 is responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for ESCC and GCA. We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chinese Han descent and 303 cases of ESCC and 537 control subjects of Chinese Uygur-Kazakh descent. We identified two previously unknown susceptibility loci for ESCC: PLCE1 at 10q23 (P(Han combined for ESCC) = 7.46 x 10(-56), odds ratio (OR) = 1.43; P(Uygur-Kazakh for ESCC) = 5.70 x 10(-4), OR = 1.53) and C20orf54 at 20p13 (P(Han combined for ESCC) = 1.21 x 10(-11), OR = 0.86; P(Uygur-Kazakh for ESCC) = 7.88 x 10(-3), OR = 0.66). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma cases and the same 11,013 control subjects (PLCE1, P(Han for GCA) = 1.74 x 10(-39), OR = 1.55 and C20orf54, P(Han for GCA) = 3.02 x 10(-3), OR = 0.91). PLCE1 and C20orf54 have important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis. C20orf54 is responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for ESCC and GCA.We performed a genome-wide association study of esophageal squamous cell carcinoma (ESCC) by genotyping 1,077 individuals with ESCC and 1,733 control subjects of Chinese Han descent. We selected 18 promising SNPs for replication in an additional 7,673 cases of ESCC and 11,013 control subjects of Chinese Han descent and 303 cases of ESCC and 537 control subjects of Chinese Uygur-Kazakh descent. We identified two previously unknown susceptibility loci for ESCC: PLCE1 at 10q23 (P(Han combined for ESCC) = 7.46 x 10(-56), odds ratio (OR) = 1.43; P(Uygur-Kazakh for ESCC) = 5.70 x 10(-4), OR = 1.53) and C20orf54 at 20p13 (P(Han combined for ESCC) = 1.21 x 10(-11), OR = 0.86; P(Uygur-Kazakh for ESCC) = 7.88 x 10(-3), OR = 0.66). We also confirmed association in 2,766 cases of gastric cardia adenocarcinoma cases and the same 11,013 control subjects (PLCE1, P(Han for GCA) = 1.74 x 10(-39), OR = 1.55 and C20orf54, P(Han for GCA) = 3.02 x 10(-3), OR = 0.91). PLCE1 and C20orf54 have important biological implications for both ESCC and GCA. PLCE1 might regulate cell growth, differentiation, apoptosis and angiogenesis. C20orf54 is responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for ESCC and GCA. |
| Audience | Academic |
| Author | ZHAO, Xue-Ke AI, Yong-Hong LI, Ji-Lin WANG, Li-Dong REN, Shu-Wei ZHANG, Yan-Rui CUI, Wen-Yan LI, Xiu-Min WANG, Wei-Peng XIA YANG FU, Wen-Jing JIE CHEN PENG ZHANG LI, Jiang-Man CHAO YUAN LI, Xing-Chuan YUE WU TIAN, Jin-Ya YANG, Jie-Zhi WANG, Han-Jing MIN LIU MIN HAN SHUANG SONG HAN, Suo-Li NA LIU ZHOU, Fu-You GUO, Zhi-Gang HONG QI SUN, Liang-Dan YAN JIN LIU, Zhi-Cai JING HUANG XIN SONG KONG, Guo-Qiang ZHOU, Sheng-Li LI, Hong-Lei YUE LU DAN LI KU, Jian-Wei YI YUAN ZHANG, Lian-Qun LI, Xue-Min TAO GUO SHEYHIDIN, Ilyar YAN WANG JUAN CUI JIA HUANG FAN, Zong-Min CHEN, Bao-Ping REN, Jing-Li GAO, Wen-Jun WANG, Hai-Yan WUWEI ZHU, Wen-Liang LING YUAN BIN LIU FENG LI YUE, Wen-Bin SHEN, Fang-Fang FENG, Chang-Wei |
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| Keywords | Human Chinese Esophagus carcinoma Single nucleotide polymorphism Malignant tumor Cancer |
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| SubjectTerms | Aged Asian Continental Ancestry Group - genetics Biological and medical sciences Carcinoma, Squamous Cell - ethnology Carcinoma, Squamous Cell - genetics Care and treatment Case-Control Studies Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 20 Classical genetics, quantitative genetics, hybrids Disease susceptibility Esophageal cancer Esophageal Neoplasms - ethnology Esophageal Neoplasms - genetics Female Fundamental and applied biological sciences. Psychology Genetic aspects Genetic Loci Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Genome-Wide Association Study Health aspects Human Humans Male Membrane Proteins - genetics Membrane Transport Proteins Middle Aged Phosphoinositide Phospholipase C - genetics Polymorphism, Single Nucleotide - physiology Risk factors Single nucleotide polymorphisms |
| Title | Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54 |
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