Systematic Search for Single Nucleotide Polymorphisms in the Insulin Gene: Evidence for a High Frequency of −23T→A in Japanese Subjects

Osawa, Haruhiko; Onuma, Hiroshi; Murakami, Akiko; Ochi, Masayuki; Nishimiya, Tatsuya; Kato, Koichi; Shimizu, Ikki; Fujii, Yasuhisa; Ohashi, Jun; Makino, Hideichi

doi:10.1006/bbrc.2001.5414

Cited by 10 publications

(5 citation statements)

References 16 publications

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“…Previous studies including this one showed the allele and genotype of the VNTR polymorphism in INS gene were different among ethical populations. Osawa et al found the A allele frequency of -23/HphI polymorphism was 97.4% in Japanese subjects, whereas in Europeans it was about 30% [18]. The results in this study showed the A allele frequency was about 93.5% (Table 2).…”

Section: Discussionsupporting

confidence: 47%

No association of the insulin gene VNTR polymorphism with polycystic ovary syndrome in a Han Chinese population

Wei

Zhang

et al. 2009

Reprod Biol Endocrinol

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BackgroundPolycystic ovary syndrome (PCOS) is a common endocrine disorder associated with an increased risk of type II diabetes mellitus. The results of previous research about the association of the VNTR polymorphism in 5-prime flanking region of the insulin (INS) gene with PCOS have been inconsistent. The present study was to investigate the association of the INS-VNTR polymorphism with PCOS in a Han Chinese population.MethodsThe -23/HphI polymorphism as a surrogate marker of the INS-VNTR length polymorphism was genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) in 216 PCOS patients and 192 non-PCOS women as a control group. Allelic and genotypic frequencies were compared between patients and controls, and these results were analyzed in respect to clinical test data.ResultsNo significant differences were observed between the cases and controls groups either in allele (P = 0.996) or genotype (P = 0.802) frequencies of INS-VNTR polymorphism; Regarding anthropometric data and hormone levels, there were no significant differences between INS-VNTR genotypes in the PCOS group, as well as in the non-PCOS group.ConclusionThe present study demonstrated for the first time that the INS-VNTR polymorphism is not a key risk factor for sporadic PCOS in the Han Chinese women. Further studies are needed to give a global view of this polymorphism in pathogenesis of PCOS in a large-scale sample, family-based association design or well-defined subgroups of PCOS.

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Section: Discussionsupporting

confidence: 47%

No association of the insulin gene VNTR polymorphism with polycystic ovary syndrome in a Han Chinese population

Wei

Zhang

et al. 2009

Reprod Biol Endocrinol

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“…PCR direct sequencing was performed as described previously with the following modifications (13,14). Genomic DNA was extracted from leukocytes using a DNA Isolation Kit for Mammalian Blood (Boehringer Mannheim, Indianapolis, IN).…”

Section: Methodsmentioning

confidence: 99%

Systematic Search for Single Nucleotide Polymorphisms in the FOXC2 Gene

et al. 2003

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1FOXC2, a forkhead/winged helix transcription factor, represents a promising candidate gene for type 2 diabetes since transgenic mice that specifically overexpress this gene in adipocytes are lean and insulin sensitive. To determine whether there are single nucleotide polymorphisms (SNPs) in this gene that are associated with type 2 diabetes, sequences of the coding and ϳ1 kb of 5 flanking regions in 24 Japanese type 2 diabetic subjects were initially analyzed using PCR direct sequencing, and the regions containing the identified polymorphisms were then examined. In 200 control subjects, three frequent SNPs were found (g. ؊512C>T [32.3%] and ؊350G>T [13.0%] in the 5 flanking region and ؉1548C>T [10.0%] in the 3 flanking region). Linkage disequilibria were found between all three pairs of these SNPs. Of the eight possible haplotypes defined by these SNPs, only four were found. When the frequencies of these SNPs and the four common haplotypes between 195 type 2 diabetic and 200 control subjects were compared, no association was evident. The ؉898C>T (Pro300Ser), ؉907C>A (Leu303Met), 1167_1169del-CCA (389delHis), and ؉1251C>A (Ala417Ala) identified in the coding region were rare, although ؉907C>A could be higher in type 2 diabetic subjects (1.5%) than in control subjects (0.3%). Thus, the SNPs identified in the FOXC2 gene are unlikely to have major effects on susceptibility to Japanese type 2 diabetes. Diabetes 52: 562-567, 2003

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“…PCR direct sequencing was performed as described previously (11,12). Genomic DNA was extracted from leukocytes using a DNA Isolation Kit for Mammalian Blood (Boehringer Mannheim, Indianapolis, IN).…”

Section: Methodsmentioning

confidence: 99%

Systematic Search for Single Nucleotide Polymorphisms in the Resistin Gene

et al. 2002

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Resistin is a novel polypeptide specifically secreted from adipocytes, and its serum levels are increased in obese diabetic mice. Resistin antagonizes insulin and could account for insulin resistance. To determine whether there are single nucleotide polymorphisms (SNPs) in the resistin gene associated with type 2 diabetes, sequences for 24 Japanese type 2 diabetic patients were initially analyzed using PCR direct sequencing. Three SNPs were found in the introns, but none were present in the coding regions. The allele frequencies of genomic ؊167C>T, ؉157C>T, and ؉299G>A in 99 Japanese control subjects were determined to be 3.5, 6.6, and 39.4%, respectively. In each pair of these SNPs, linkage disequilibria were found between either ؊167C>T and ؉299G>A or ؉157C>T and ؉299G>A. A linkage disequilibrium was also detected among ؊167C>T, ؉157C>T, and ؉299G>A, and only four of the eight possible haplotypes defined by these SNPs were found. A comparison of the frequencies of these SNPs and haplotypes between 99 type 2 diabetes and 99 control subjects revealed no evidence for any association. These identified SNPs, which were in linkage disequilibrium, represent potentially useful tools for searching for their association with specific phenotypes of diabetes. Diabetes 51:863-866, 2002

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Systematic Search for Single Nucleotide Polymorphisms in the Insulin Gene: Evidence for a High Frequency of −23T→A in Japanese Subjects

Cited by 10 publications

References 16 publications

No association of the insulin gene VNTR polymorphism with polycystic ovary syndrome in a Han Chinese population

No association of the insulin gene VNTR polymorphism with polycystic ovary syndrome in a Han Chinese population

Systematic Search for Single Nucleotide Polymorphisms in the FOXC2 Gene

Systematic Search for Single Nucleotide Polymorphisms in the Resistin Gene

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