Association of Microsatellite Polymorphisms of the Human 14q13.2 Region with Type 2 Diabetes Mellitus in Latvian and Finnish Populations

Abstract

SummaryA polymorphic microsatellite in intron 6 of the human proteasome core particle PSMA6 gene (HSMS006), and four other microsatellites localized upstream on human chromosome 14q13.2 (HSMS801, HSMS702, HSMS701, HSMS602), were genotyped in 104 type 2 diabetic patients and 129 age-matched control subjects from Latvia and replicated in 91 type 2 diabetic patients and 88 age-matched healthy control subjects from the Botnia Study in Finland. In type 2 diabetic patients from both populations the HSMS006 (TG)22 allele was two times more frequent compared to the control group. In the Latvian population the (CAA)8 allele of the HSMS602 marker was less frequent in the diabetic group, as was the (AC)24 allele of microsatellite HSMS801. Allele frequencies of the HSMS701 and 702 repeats were similar in healthy controls and type 2 diabetic patients. In conclusion, our data suggest that variants in the PSMA6 gene on chromosome 14q13.2 are associated with type 2 diabetes.

Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency

“…To support this idea, there is the fi nding that a variable number of TG repeats present in intron 8 of CFTR gene contributes to phenotype diversity in Cystic Fibrosis by forming RNA secondary structures that alter exon 9 splicing process (21). Linkages of TG repeats within intronic regions of different genes, including PAX7 which belongs to the same PAX6 gene family, have been described in a few diseases (22)(23)(24). Therefore, it is possible that nucleotide alterations within introns might have effects in transcript productions.…”

“…Normally, PAX6 alleles bear a sequence of (TG) [19][20][21][22][23][24][25][26][27][28][29] repeats interrupted by a GG dinucleotide and followed by a (TG) 7 repeat. Patients A and C were heterozygous for (TG) 19/21 -GG -(TG) 7 sequences, however patient B was heterozygous for (TG) 16/19 repeats with absence of the intercalated GG dinucleotide and the last (TG) 7 repeats (Table 3).…”

Identification of a Novel Candidate Locus for Juvenile Idiopathic Arthritis at 14q13.2 in the Latvian Population by Association Analysis with Microsatellite Markers

“…1) as well as to that previously described for the Latvian and Finnish populations (Sjakste et al, 2004(Sjakste et al, , 2007. In the current study, we identified 7 alleles of HSMS602 (167-171 bp and 177-178 bp), 9 alleles of HSMS701 [(AC) 5 AT(AC) 14-12 ], 12 alleles of HSMS702 [(TG) 10-14, 17-18, 20-25 Figure 1 summarizes data of the remaining allele's distribution in JIA patients and control subjects.…”

“…To improve the reliability of our data, formerly based mostly on fragment size analysis (Sjakste et al, 2004(Sjakste et al, , 2007, we have checked the MS motifs by sequencing. Genomic regions encompassing MS repeats were amplified and sequenced in several specimens to annotate the MS length variability to MS repeat number variation.…”

“…Information on the markers used, genes nesting MS, and loci polymorphism are summarized in Table 2. Polymerase chain reaction products for MS fragment sizing were amplified with HSMS primers as previously described (Sjakste et al, 2002(Sjakste et al, , 2004(Sjakste et al, , 2007. DNA fragments were separated by capillary electrophoresis using the ABI Prism Ò 310 Genetic Analyzer (Applied Biosystems, Foster, CA).…”