The association of five polymorphisms with diabetic retinopathy in a Chinese population.

PURPOSE: To comprehend the etiology of diabetic retinopathy (DR), it is crucial to clarify the genetic susceptibility factors for DR. Previous studies have reported that five single nucleotide polymorphisms (SNPs), including rs9362054 (near the CEP162 gene), rs1990145 (MRPL19), rs10519765 (FMN1), rs237025 (SUMO4) and rs767649 (MIR155HG) were associated with DR. This study was conducted to elucidate the association between the five SNPs and DR in a Chinese Han population. METHODS: A total of 957 individuals with type 2 diabetes mellitus (T2DM) including diabetes mellitus without retinopathy (DNR = 478), nonproliferative DR (NPDR = 384) and proliferative (PDR = 95) were recruited in this study. SNPs were genotyped using the Mass ARRAY MALDI-TOF system. The genotype and allele frequencies were determined using χ2 tests. For genotype and allele risk, odds ratios (OR) and 95% confidence intervals (CI) were calculated. Four genetic models (homozygous, heterozygous, dominant, and recessive) were used to further investigate the link between the five SNPs and DR. RESULTS: There was a statistically significant difference of CEP162 rs9362054 between NPDR and DNR (P = .027, OR = 1.26, 95%CI = 1.03-1.54) and a significant association of SUMO4 rs237025 detected between PDR and DNR (P = .031, OR = 1.45, 95%CI = 1.03-2.02). The association of CEP162 rs9362054 was also observed under the dominant mode (P = .03, OR = 1.35, 95%CI = 1.03-1.77). The association of SUMO4 rs237025 was found under the heterozygous model (P = .03, OR = 1.68, 95%CI = 1.06-2.69) and the dominant model (P = .02, OR = 1.70, 95%CI = 1.08-2.67). No associations of the other three SNPs with NPDR and PDR were detected when compared with DNR under these genetic models. CONCLUSIONS: This study showed that rs9362054 and rs237025 were associated with NPDR and PDR when compared with DNR, suggesting that SUMO4 may be involved in the development of PDR, while CEP162 may be associated with NPDR.

Long-term postoperative outcomes of bilateral lateral rectus recession vs unilateral recession-resection for intermittent exotropia.

AIM: To discuss the long-term postoperative results of bilateral lateral rectus recession (BLR) and unilateral lateral rectus recession-medial rectus resection (RR) in therapy of intermittent exotropia. METHODS: We retrospectively analyzed 213 cases of intermittent exotropia who underwent surgery between 2008 and 2010. The patients were grouped into BLR group and RR group. Motor outcomes were divided into three groups on the basis of the angle of deviation after surgery: overcorrection (esotropia/phoria >5(Δ)), orthophoria (esotropia/phoria ≤5(Δ) to exotropia/phoria ≤10(Δ)), and undercorrection/recurrence (exotropia/phoria >10(Δ)). Titmus test was used to evaluate stereoacuity, the stereoacuity <800s of arc meaned the patients had stereopsis. Surgical outcome including motor criteria and sensory status were compared at postoperative 6, 12, 24mo and at 36mo examination between groups. RESULTS: At 12, 24mo after surgery, the motor outcomes had no difference (P>0.05) between groups. However, the motor outcomes at 6, 36mo were signally different in each group, indicating the success rate in RR group at 6mo was higher than that in BLR group (83.02% vs 82.24%, P<0.05) but the result was contrary at the 3y examination (60.75% vs 43.40%, P<0.05). No statistical significance were found in the sensory outcomes between the groups at mean of 3.7y follow-up. CONCLUSION: The motor outcomes in RR group were better than in BLR group at 6mo after surgery, while the 3y outcomes were better in BLR group. This may be due to the recurrence rate of the BLR was lower than the RR group's.

Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population.

AIM: To investigate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in the myocilin (MYOC), hepatocyte growth factor (HGF), hepatocyte growth factor receptor (MET), and aggrecan (ACAN) genes in a Han Chinese population. METHODS: Sixteen SNPs were genotyped by the SNaPshot method in a subject group composed of 1052 HM patients and 1070 controls. Statistical analysis was performed to determine the association between the SNPs and the susceptibility of HM. RESULTS: Two SNPs (rs3784757 and rs1516794) in ACAN were significantly associated with HM (p=0.0334 and 0.0236, odds ratio [OR]=0.83 and 0.79, respectively). The risk haplotype CA and the protective haplotype TT, generated by rs3784757 and rs1516794, showed significant association with HM (p=0.0327 and 0.0304, OR=1.21 and 0.80, respectively). Two SNPs (rs38857 and rs10215153) in MET and one SNP (rs3784757) in ACAN showed significant association with HM (p=0.0064, 0.0113, and 0.0373; OR=4.14, 5.74 and 0.52; respectively) in the recessive model. None of the other SNPs showed significant association with HM. CONCLUSIONS: Our results suggested that genetic variants in ACAN and MET are associated with HM. Functional roles of ACAN and MET in the development of HM need to be further investigated.

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).

PURPOSE: Two Chinese families (XT and YT) with congenital fibrosis of the extraocular muscles (CFEOM) were identified. The purpose of this study was to determine if previously described Homo sapiens kinesin family member 21A (KIF21A) mutations were responsible for CFEOM in these two Chinese pedigrees. METHODS: Clinical characterization and genetic studies were performed. Microsatellite genotyping for linkage to the CFEOM1 and CFEOM3 loci was performed. The probands were screened for KIF21A mutations by bidirectional direct sequencing. Once a mutation was detected in the proband, all other participating family members and 100 unrelated control normal individuals were screened for the mutation. RESULTS: All affected individuals in family XT shared the common manifestations of CFEOM1. Family YT had two affected individuals, a mother and a daughter. The daughter had CFEOM1, while her mother never had congential ptosis but did have limited extraocular movements status post strabismus surgery. Haplotype analysis revealed that pedigree XT was linked to the 12q CFEOM1 locus and the affected memberes harbored the second most common missense mutation in KIF21A (2,861G>A, R954Q). Family YT harbored the most common missense de novo mutation in KIF21A (2,860C>T, R954W). Both of these mutations have been previously described. CONCLUSIONS: The observation of these two KIF21A mutations in a Chinese pedigree underscores the homogeneity of these mutations as a cause of CFEOM1 and CFEOM3 across ethnic divisions.