PURPOSE: To investigate whether there are associations of genetic variations in chromosome 15q14 and 15q25, recently shown to confer risk of refractive error and myopia in Caucasians, with high myopia in Japanese. METHODS: A total of 1125 unrelated Japanese patients with high myopia and two independent control groups were evaluated (366 cataract patients without high myopia and 929 healthy Japanese patients). The four single nucleotide polymorphisms (SNPs) rs634990 and rs524952 at 15q14 and rs8027411 and rs17175798 at 15q25 were genotyped. RESULTS: A significant association with high myopia was observed in 15q14 (P = 0.0035 for rs634990 and P = 0.0017 for rs524952 when evaluated with cataract controls and P = 1.91 × 10(-6) for rs634990 and P = 8.78 × 10(-7) for rs524952 with healthy Japanese controls). When evaluated with cataract controls, the odds ratios (95% confidence intervals) were 1.30 (1.10-1.53) for rs634990 C allele and 1.32 (1.11-1.56) for rs524952 A allele. The population attributable risks were 0.29 and 0.30, respectively. The SNPs in 15q25 did not show a significant association with high myopia when evaluated with cataract control (P > 0.42), while it showed a weak association when evaluated with healthy Japanese controls (P = 0.031 for rs8027411 and P = 0.047 for rs17175798) with odds ratios of 1.17 (1.03-1.33) for rs8027411 T allele and 1.15 (1.02-1.31) for rs17175798 C allele. CONCLUSIONS: These findings suggest that a region in 15q14 is susceptibility loci for high myopia. This locus harbor susceptibility genes for not only common myopia but also for high myopia. The 15q25 locus might also have association to myopia.
PURPOSE: To investigate whether there are associations of genetic variations in chromosome 15q14 and 15q25, recently shown to confer risk of refractive error and myopia in Caucasians, with high myopia in Japanese. METHODS: A total of 1125 unrelated Japanese patients with high myopia and two independent control groups were evaluated (366 cataractpatients without high myopia and 929 healthy Japanese patients). The four single nucleotide polymorphisms (SNPs) rs634990 and rs524952 at 15q14 and rs8027411 and rs17175798 at 15q25 were genotyped. RESULTS: A significant association with high myopia was observed in 15q14 (P = 0.0035 for rs634990 and P = 0.0017 for rs524952 when evaluated with cataract controls and P = 1.91 × 10(-6) for rs634990 and P = 8.78 × 10(-7) for rs524952 with healthy Japanese controls). When evaluated with cataract controls, the odds ratios (95% confidence intervals) were 1.30 (1.10-1.53) for rs634990 C allele and 1.32 (1.11-1.56) for rs524952 A allele. The population attributable risks were 0.29 and 0.30, respectively. The SNPs in 15q25 did not show a significant association with high myopia when evaluated with cataract control (P > 0.42), while it showed a weak association when evaluated with healthy Japanese controls (P = 0.031 for rs8027411 and P = 0.047 for rs17175798) with odds ratios of 1.17 (1.03-1.33) for rs8027411 T allele and 1.15 (1.02-1.31) for rs17175798 C allele. CONCLUSIONS: These findings suggest that a region in 15q14 is susceptibility loci for high myopia. This locus harbor susceptibility genes for not only common myopia but also for high myopia. The 15q25 locus might also have association to myopia.
Authors: Virginie J M Verhoeven; Pirro G Hysi; Seang-Mei Saw; Veronique Vitart; Alireza Mirshahi; Jeremy A Guggenheim; Mary Frances Cotch; Kenji Yamashiro; Paul N Baird; David A Mackey; Robert Wojciechowski; M Kamran Ikram; Alex W Hewitt; Priya Duggal; Sarayut Janmahasatian; Chiea-Chuen Khor; Qiao Fan; Xin Zhou; Terri L Young; E-Shyong Tai; Liang-Kee Goh; Yi-Ju Li; Tin Aung; Eranga Vithana; Yik-Ying Teo; Wanting Tay; Xueling Sim; Igor Rudan; Caroline Hayward; Alan F Wright; Ozren Polasek; Harry Campbell; James F Wilson; Brian W Fleck; Isao Nakata; Nagahisa Yoshimura; Ryo Yamada; Fumihiko Matsuda; Kyoko Ohno-Matsui; Abhishek Nag; George McMahon; Beate St Pourcain; Yi Lu; Jugnoo S Rahi; Phillippa M Cumberland; Shomi Bhattacharya; Claire L Simpson; Larry D Atwood; Xiaohui Li; Leslie J Raffel; Federico Murgia; Laura Portas; Dominiek D G Despriet; Leonieke M E van Koolwijk; Christian Wolfram; Karl J Lackner; Anke Tönjes; Reedik Mägi; Terho Lehtimäki; Mika Kähönen; Tõnu Esko; Andres Metspalu; Taina Rantanen; Olavi Pärssinen; Barbara E Klein; Thomas Meitinger; Timothy D Spector; Ben A Oostra; Albert V Smith; Paulus T V M de Jong; Albert Hofman; Najaf Amin; Lennart C Karssen; Fernando Rivadeneira; Johannes R Vingerling; Guðný Eiríksdóttir; Vilmundur Gudnason; Angela Döring; Thomas Bettecken; André G Uitterlinden; Cathy Williams; Tanja Zeller; Raphaële Castagné; Konrad Oexle; Cornelia M van Duijn; Sudha K Iyengar; Paul Mitchell; Jie Jin Wang; René Höhn; Norbert Pfeiffer; Joan E Bailey-Wilson; Dwight Stambolian; Tien-Yin Wong; Christopher J Hammond; Caroline C W Klaver Journal: Hum Genet Date: 2012-06-05 Impact factor: 4.132