Lack of an intronic Sp1 binding-site polymorphism at the collagen type I α1 gene in healthy Korean women

Han, Kyoung-Sik; Moon, Ik-Sang; Hwang, Chang Sun; Choi, Jung-Joo; Yoon, Hyun Sik; Min, Hyang Ki; Han, In K.

doi:10.1016/s8756-3282(98)00155-0

Cited by 33 publications

(15 citation statements)

References 14 publications

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“…On the contrary, however, a Japanese study with 404 osteoporosis patients showed the ratio 0%,24 and a study in Korea which included 200 healthy menopausal women showed that the ratio of polymorphism was also 0%,25 therefore, similar to our current study. These findings suggest that the Sp1 binding site polymorphism in the COLIA1 does not significantly contribute to the development of POP.…”

Section: Discussionsupporting

confidence: 88%

Polymorphism of a COLIA1 Gene Sp1 Binding Site in Korean Women with Pelvic Organ Prolapse

et al. 2009

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PurposeTo evaluate the possible influence of G→T substitution at the Sp1-binding site of the COLIA1 gene on the risk of pelvic organ prolapse (POP).Materials and MethodsThe study group consisted of 15 women with advanced stage POP. Fifteen control subjects with uterine myomas among the postmenopausal women were matched for age and parity. DNA was obtained from peripheral blood leukocytes. The fragments of the first intron of the COLIA1 gene were amplified by real time polymerase chain reaction. The polymorphism was identified using LightCycler Technology with hybridization probes. Sequencing reactions were performed on each template using commercial primer.ResultsTwo groups had no significant difference in medical history, surgical, and smoking history. The homozygous peaks in two groups were noted at 57℃ on melting curve analysis. Sequencing reactions confirmed the G/G alleles in the 30 specimens tested. We could not find any polymorphism at the Sp1-binding site in COLIA1 gene with advanced stage POP. Statistical significance was considered to be p < .05.ConclusionThe polymorphism of the Sp1-binding site in the COLIA1 gene did not contribute to the development of POP in Korea.

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Section: Discussionsupporting

confidence: 88%

Polymorphism of a COLIA1 Gene Sp1 Binding Site in Korean Women with Pelvic Organ Prolapse

et al. 2009

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“…Some genes indicated the significant differences at most SNPs compared (e.g., PTHR1 between Japanese and Caucasians, Table 5). These results are consistent with the previously reported data about high differentiation between Asians and Caucasians at candidate genes for bone mass [35,36]. …”

Section: Discussionsupporting

confidence: 93%

Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis

et al. 2004

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BackgroundPublic SNP databases are frequently used to choose SNPs for candidate genes in the association and linkage studies of complex disorders. However, their utility for such studies of diseases with ethnic-dependent background has never been evaluated.ResultsTo estimate the accuracy and completeness of SNP public databases, we analyzed the allele frequencies of 41 SNPs in 10 candidate genes for obesity and/or osteoporosis in a large American-Caucasian sample (1,873 individuals from 405 nuclear families) by PCR-invader assay. We compared our results with those from the databases and other published studies. Of the 41 SNPs, 8 were monomorphic in our sample. Twelve were reported for the first time for Caucasians and the other 29 SNPs in our sample essentially confirmed the respective allele frequencies for Caucasians in the databases and previous studies. The comparison of our data with other ethnic groups showed significant differentiation between the three major world ethnic groups at some SNPs (Caucasians and Africans differed at 3 of the 18 shared SNPs, and Caucasians and Asians differed at 13 of the 22 shared SNPs). This genetic differentiation may have an important implication for studying the well-known ethnic differences in the prevalence of obesity and osteoporosis, and complex disorders in general.ConclusionA comparative analysis of the SNP data of the candidate genes obtained in the present study, as well as those retrieved from the public domain, suggests that the databases may currently have serious limitations for studying complex disorders with an ethnic-dependent background due to the incomplete and uneven representation of the candidate SNPs in the databases for the major ethnic groups. This conclusion attests to the imperative necessity of large-scale and accurate characterization of these SNPs in different ethnic groups.

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“…In a low incidence area, such as Korea, the Sp1 polymorphism was not detected among 200 postmenopausal women (25). In Scandinavia both the incidence of hip fracture and the frequency of the`s' allele are high.…”

Section: Boysmentioning

confidence: 99%

The Sp1 binding site polymorphism in the collagen type I alpha 1 (COLIA1) gene is not associated with bone mineral density in healthy children, adolescents, and young adults

Berg

Lehmann²,

Stakkestad³

et al. 2000

European Journal of Endocrinology

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Up to 85% of the variance in bone mineral density (BMD) is genetically determined. A putative candidate gene involved in the regulation of bone mass is the COLIA1 gene encoding type I collagen, which is the major protein of bone. We examined possible allelic in¯uences of a G to T COLIA1 gene polymorphism in a recognition site for the transcription factor Sp1 on: (i) gain of forearm BMD using single photon absorptiometry (SPA); and (ii), BMD of the forearm, spine, hip, and whole body with dual X-ray absorptiometry (DXA). At baseline, 269 healthy boys and girls aged 8.2±16.5 years were eligible for the study. Forearm BMD measurements obtained at baseline and after 3.8 6 0.1 years (6 S.D.) were used to calculate the annual percentage change in BMD. Calcium intake and physical activity were determined by a detailed questionnaire at baseline and after 1 year. Essentially no signi®cant differences in forearm BMD gain or in BMD assessed at the forearm, spine, and whole body were observed among the three COLIA1 genotypes.In conclusion, the data indicate that the polymorphism at the Sp1 site in the COLIA1 gene is not associated with BMD or gain of forearm BMD in healthy boys and girls.

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Lack of an intronic Sp1 binding-site polymorphism at the collagen type I α1 gene in healthy Korean women

Cited by 33 publications

References 14 publications

Polymorphism of a COLIA1 Gene Sp1 Binding Site in Korean Women with Pelvic Organ Prolapse

Polymorphism of a COLIA1 Gene Sp1 Binding Site in Korean Women with Pelvic Organ Prolapse

Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis

The Sp1 binding site polymorphism in the collagen type I alpha 1 (COLIA1) gene is not associated with bone mineral density in healthy children, adolescents, and young adults

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