EPHA2 polymorphisms and age-related cataract in India.
EPHA2 polymorphisms and age-related cataract in India.
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DOI：
10.1371/journal.pone.0033001
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Fletcher AE
中科院分区：
文献类型：
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作者：
Sundaresan P;Ravindran RD;Vashist P;Shanker A;Nitsch D;Talwar B;Maraini G;Camparini M;Nonyane BA;Smeeth L;Chakravarthy U;Hejtmancik JF;Fletcher AE
我们调查了之前在欧洲研究中报道的EphA2单核苷酸多态(SNPs)是否与印度的白内障有关。我们开展了一项基于群体的遗传关联研究。我们列举了印度北部和南部两个地区随机抽样的村庄，以确定40岁及以上的人。参与者参加了包括镜头摄影在内的临床检查，并提供了用于基因分型的血液样本。晶状体图像按晶状体混浊分类系统(LOCS III)分级。白内障定义为核≥4，皮质≥3，后囊下≥2，或双眼有致密混浊或无晶状体/人工晶状体。我们在ABI 7900实时荧光定量聚合酶链式反应中用TaqMan方法检测了外周血白细胞基因组DNA上的rs3754334、rs7543472和rs11260867三个单核苷酸多态。我们使用具有稳健标准误差的Logistic回归来检验白内障与EphA2 SNPs之间的关联，并调整了年龄、性别和位置。7418名参与者至少有一个被调查的SNP的数据。对照组的基因频率符合Hardy-Weinberg平衡(p>；0.05)。Rs3754334与白内障或白内障类型无关。与主要纯合子相比，rs7543472和rs11260867的次要等位基因纯合子与皮质性白内障、优势比(OR) = 1.8、95%可信区间(CI)分别为(1.1，3.1)p = 0.03和2.9(1.2，7.1)p = 0.01和OR = 1.5(1.1，2.2)p = 0.02和1.8(0.9，3.6)p = 0.07分别相关。SNPs与核性白内障或包括手术后白内障在内的任何类型的白内障的联合变量之间没有一致的关联。我们在印度人群中的研究结果与之前关于EphA2变异与皮质性白内障相关的研究一致。我们报告了与PSC的关联的新发现，PSC在印度人中特别普遍。
We investigated whether previously reported single nucleotide polymorphisms (SNPs) of EPHA2 in European studies are associated with cataract in India. We carried out a population-based genetic association study. We enumerated randomly sampled villages in two areas of north and south India to identify people aged 40 and over. Participants attended a clinical examination including lens photography and provided a blood sample for genotyping. Lens images were graded by the Lens Opacification Classification System (LOCS III). Cataract was defined as a LOCS III grade of nuclear ≥4, cortical ≥3, posterior sub-capsular (PSC) ≥2, or dense opacities or aphakia/pseudophakia in either eye. We genotyped SNPs rs3754334, rs7543472 and rs11260867 on genomic DNA extracted from peripheral blood leukocytes using TaqMan assays in an ABI 7900 real-time PCR. We used logistic regression with robust standard errors to examine the association between cataract and the EPHA2 SNPs, adjusting for age, sex and location. 7418 participants had data on at least one of the SNPs investigated. Genotype frequencies of controls were in Hardy-Weinberg Equilibrium (p>0.05). There was no association of rs3754334 with cataract or type of cataract. Minor allele homozygous genotypes of rs7543472 and rs11260867 compared to the major homozygote genotype were associated with cortical cataract, Odds ratio (OR) = 1.8, 95% Confidence Interval (CI) (1.1, 3.1) p = 0.03 and 2.9 (1.2, 7.1) p = 0.01 respectively, and with PSC cataract, OR = 1.5 (1.1, 2.2) p = 0.02 and 1.8 (0.9, 3.6) p = 0.07 respectively. There was no consistent association of SNPs with nuclear cataract or a combined variable of any type of cataract including operated cataract. Our results in the Indian population agree with previous studies of the association of EPHA2 variants with cortical cataracts. We report new findings for the association with PSC which is particularly prevalent in Indians.
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影响因子：
--
作者：
LESKE, MC;CHYLACK, LT;WU, SY
通讯作者：
WU, SY
影响因子：
4.5
作者：
Jun G;Guo H;Klein BE;Klein R;Wang JJ;Mitchell P;Miao H;Lee KE;Joshi T;Buck M;Chugha P;Bardenstein D;Klein AP;Bailey-Wilson JE;Gong X;Spector TD;Andrew T;Hammond CJ;Elston RC;Iyengar SK;Wang B
通讯作者：
Wang B
影响因子：
5
作者：
Klein, BEK;Klein, R;Danforth, L
通讯作者：
Danforth, L
影响因子：
4.4
作者：
Krishnaiah, S;Vilas, K;Balasubramanian, D
通讯作者：
Balasubramanian, D
影响因子：
4.4
作者：
Nirmalan, PK;Krishnadas, R;Robin, AL
通讯作者：
Robin, AL