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DOI 10.1007/s00439-012-1176-0

Медицинская библиотека · Human genetics · 2012

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

Verhoeven Virginie J M, Hysi Pirro G, Saw Seang-Mei, Vitart Veronique, Mirshahi Alireza, Guggenheim Jeremy A, Cotch Mary Frances, Yamashiro Kenji, Baird Paul N, Mackey David A, Wojciechowski Robert, Ikram M Kamran, Hewitt Alex W, Duggal Priya, Janmahasatian Sarayut, Khor Chiea-Chuen, Fan Qiao, Zhou Xin, Young Terri L, Tai E-Shyong, Goh Liang-Kee, Li Yi-Ju, Aung Tin, Vithana Eranga, Teo Yik-Ying, Tay Wanting, Sim Xueling, Rudan Igor, Hayward Caroline, Wright Alan F, Polasek Ozren, Campbell Harry, Wilson James F, Fleck Brian W, Nakata Isao, Yoshimura Nagahisa, Yamada Ryo, Matsuda Fumihiko, Ohno-Matsui Kyoko, Nag Abhishek, McMahon George, St Pourcain Beate, Lu Yi, Rahi Jugnoo S, Cumberland Phillippa M, Bhattacharya Shomi, Simpson Claire L, Atwood Larry D, Li Xiaohui, Raffel Leslie J, Murgia Federico, Portas Laura, Despriet Dominiek D G, van Koolwijk Leonieke M E, Wolfram Christian, Lackner Karl J, Tönjes Anke, Mägi Reedik, Lehtimäki Terho, Kähönen Mika, Esko Tõnu, Metspalu Andres, Rantanen Taina, Pärssinen Olavi, Klein Barbara E, Meitinger Thomas, Spector Timothy D, Oostra Ben A, Smith Albert V, de Jong Paulus T V M, Hofman Albert, Amin Najaf, Karssen Lennart C, Rivadeneira Fernando, Vingerling Johannes R, Eiríksdóttir Guðný, Gudnason Vilmundur, Döring Angela, Bettecken Thomas, Uitterlinden André G, Williams Cathy, Zeller Tanja, Castagné Raphaële, Oexle Konrad, van Duijn Cornelia M, Iyengar Sudha K, Mitchell Paul, Wang Jie Jin, Höhn René, Pfeiffer Norbert, Bailey-Wilson Joan E, Stambolian Dwight, Wong Tien-Yin, Hammond Christopher J, Klaver Caroline C W

СтатьяМетаанализПоддержка NIH: внешняя программаResearch Support, N.I.H., IntramuralПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 × 10(-12) for SNP rs634990 in Caucasians, and 9.65 × 10(-4) for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 × 10(-23) for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P < 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49, P < 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (P value 5.81 × 10(-2) for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.

Для цитирования: Verhoeven Virginie J M, Hysi Pirro G, Saw Seang-Mei, Vitart Veronique, Mirshahi Alireza, Guggenheim Jeremy A, Cotch Mary Frances, Yamashiro Kenji, Baird Paul N, Mackey David A, Wojciechowski Robert, Ikram M Kamran, Hewitt Alex W, Duggal Priya, Janmahasatian Sarayut, Khor Chiea-Chuen, Fan Qiao, Zhou Xin, Young Terri L, Tai E-Shyong, Goh Liang-Kee, Li Yi-Ju, Aung Tin, Vithana Eranga, Teo Yik-Ying, Tay Wanting, Sim Xueling, Rudan Igor, Hayward Caroline, Wright Alan F, Polasek Ozren, Campbell Harry, Wilson James F, Fleck Brian W, Nakata Isao, Yoshimura Nagahisa, Yamada Ryo, Matsuda Fumihiko, Ohno-Matsui Kyoko, Nag Abhishek, McMahon George, St Pourcain Beate, Lu Yi, Rahi Jugnoo S, Cumberland Phillippa M, Bhattacharya Shomi, Simpson Claire L, Atwood Larry D, Li Xiaohui, Raffel Leslie J, Murgia Federico, Portas Laura, Despriet Dominiek D G, van Koolwijk Leonieke M E, Wolfram Christian, Lackner Karl J, Tönjes Anke, Mägi Reedik, Lehtimäki Terho, Kähönen Mika, Esko Tõnu, Metspalu Andres, Rantanen Taina, Pärssinen Olavi, Klein Barbara E, Meitinger Thomas, Spector Timothy D, Oostra Ben A, Smith Albert V, de Jong Paulus T V M, Hofman Albert, Amin Najaf, Karssen Lennart C, Rivadeneira Fernando, Vingerling Johannes R, Eiríksdóttir Guðný, Gudnason Vilmundur, Döring Angela, Bettecken Thomas, Uitterlinden André G, Williams Cathy, Zeller Tanja, Castagné Raphaële, Oexle Konrad, van Duijn Cornelia M, Iyengar Sudha K, Mitchell Paul, Wang Jie Jin, Höhn René, Pfeiffer Norbert, Bailey-Wilson Joan E, Stambolian Dwight, Wong Tien-Yin, Hammond Christopher J, Klaver Caroline C W. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.. Human genetics. 2012. DOI: 10.1007/s00439-012-1176-0.

Предметные рубрики MeSH

AllelesChromosomes, Human, Pair 15HumansMyopiaPhenotypePolymorphism, Single Nucleotide
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