Possible counter effect in newborns of 1936A&gt;G (I646V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10

Łoniewska, Beata; Jw, Clark; Kaczmarczyk, Mariusz; Adler, Grażyna; Bińczak-Kuleta, Agnieszka; Kordek, Agnieszka; Horodnicka‐Józwa, Anita; Dawid, Grażyna; Rudnicki, Jacek; Ciechanowicz, Andrzej

doi:10.1038/jp.2011.85

Cited by 5 publications

(3 citation statements)

References 31 publications

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“…Presence of the G allele at the AKAP10 locus is also associated with decreased preterm birth, however. A study of 203 newborns showed that preterm newborns were 55% more likely to be AA homozygotes than full term newborns, indicating a positive association between the G allele and full-term birth ( Łoniewska et al, 2012 ). Those authors suggested that newborns homozygous for the G allele may be more efficient at changing from glycolytic to oxidative metabolism after birth.…”

Section: Resultsmentioning

confidence: 99%

More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles

Lockwood,

Vo,

Bellafard

et al. 2024

Front. Genet.

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IntroductionMany loci segregate alleles classified as “genetic diseases” due to their deleterious effects on health. However, some disease alleles have been reported to show beneficial effects under certain conditions or in certain populations. The beneficial effects of these antagonistically pleiotropic alleles may explain their continued prevalence, but the degree to which antagonistic pleiotropy is common or rare is unresolved. We surveyed the medical literature to identify examples of antagonistic pleiotropy to help determine whether antagonistic pleiotropy appears to be rare or common.ResultsWe identified ten examples of loci with polymorphisms for which the presence of antagonistic pleiotropy is well supported by detailed genetic or epidemiological information in humans. One additional locus was identified for which the supporting evidence comes from animal studies. These examples complement over 20 others reported in other reviews.DiscussionThe existence of more than 30 identified antagonistically pleiotropic human disease alleles suggests that this phenomenon may be widespread. This poses important implications for both our understanding of human evolutionary genetics and our approaches to clinical treatment and disease prevention, especially therapies based on genetic modification.

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Section: Resultsmentioning

confidence: 99%

More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles

Lockwood,

Vo,

Bellafard

et al. 2024

Front. Genet.

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“…The confounded association resulting from stratification or admixture within a population can be reduced by matching by geographical region and/or by markers of ethnic origin [36]. The population now inhabiting the region of West Pomerania resulted from extensive mixing of Polish people from all regions of Poland after the Second World War and therefore can provide a representative sample of a Caucasian-European population [37]. In addition, the rs7922846 allele frequencies were similar to those reported in adult control subjects in a Leipzig cohort, a self-contained Sorbian population in Germany [16], and Utah residents with ancestry from Northern and Western Europe from the HapMap project [38].…”

Section: Discussionmentioning

confidence: 99%

Association of BMPR1A polymorphism, but not BMP4, with kidney size in full-term newborns

et al. 2012

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BackgroundA correlation between renal mass and nephron number in newborns allows the use of total kidney volume at birth as a surrogate for congenital nephron number. As the bone morphogenetic protein type 4 (BMP4), and its receptor type 1A (BMPR1A, ALK3), play an important role in renal development, we hypothesized that common, functional polymorphisms in their genes might be responsible for variation in kidney size among healthy individuals.MethodsWe recruited 179 healthy full-term newborns born to healthy women. Kidney volume was measured sonographically. Total kidney volume (TKV) was calculated as the sum of left and right kidneys, and normalized for body surface area (TKV/BSA). Genomic DNA was extracted from umbilical cord blood leukocytes, and c.455T > C (rs17563) BMP4 and c.67 + 5659A > T (rs7922846) BMPR1A genotypes were identified by PCR-RFLP.ResultsTKV/BSA in newborns carrying at least one A BMPR1A allele (AA + AT) was significantly reduced by approximately 13 % as compared with TT homozygous newborns (106.7 ± 21.5 ml/m2 vs. 122.7 ± 43.8 ml/m2, p < 0.02). No significant differences in TKV/BSA were found among newborns with different BMP4 genotypes.ConclusionsResults suggest that rs7922846 BMPR1A polymorphism may account for subtle variation in kidney size at birth, reflecting congenital nephron endowment.

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“…Following the discovery of an exon 5 variant, a population group (100 Polish newborns randomly chosen from the Newborn DNA Repository at the Department of Clinical and Molecular Biochemistry at the Pomeranian Medical University in Szczecin [17]) was screened by sequencing exon 5.…”

Section: Introductionmentioning

confidence: 99%

Missense splice variant (g.20746A>G, p.Ile183Val) of interferon gamma receptor 1 (IFNGR1) coincidental with mycobacterial osteomyelitis - a screen of osteoarticular lesions

Bińczak-Kuleta

Szwed

Walter

et al. 2016

Bosn J of Basic Med Sci

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Previously, dominant partial interferon-gamma receptor 1 (IFN-g-R1) susceptibility to environmental mycobacteria was found with IFNGR1 deletions or premature stop. Our aim was to search for IFNGR1 variants in patients with mycobacterial osteoarticular lesions. Biopsies from the patients were examined for acid-fast bacilli, inflammatory cell infiltration, and mycobacterial niacin. Mycobacterial rRNA was analyzed using a target-amplified rRNA probe test. Peripheral-blood-leukocyte genomic DNA was isolated from 19 patients using the QIAamp DNA Mini Kit, and all IFNGR1 exons were sequenced using an ABIPRISM 3130 device. After the discovery of an exon 5 variant, a Polish newborn population sample (n = 100) was assayed for the discovered variant. Splice sites and putative amino acid interactions were analyzed. All patients tested were positive for mycobacteria; one was heterozygous for the IFNGR1 exon 5 single-nucleotide-missense substitution (g.20746A>G, p.Ile183Val). No other variant was found. The splice analysis indicated the creation of an exonic splicing silencer, and alternatively, molecular graphics indicated that the p.Ile183Val might alter beta-strand packing (loss of van der Waals contacts; Val183/Pro205), possibly altering the IFN-g-R1/IFN-g-R2 interaction. The probability of non-deleterious variant was estimated as <10%. Heterozygous IFNGR1:p.Ile183Val (frequency 0.003%) was found to be coincidental with mycobacterial osteomyelitis. The small amount of variation detected in the patients with osteoarticular lesions indicates that screens should not yet be restricted: Intronic variants should be analyzed as well as the other genes affecting Type 1 T-helper-cell-mediated immunity.

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Possible counter effect in newborns of 1936A>G (I646V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10

Cited by 5 publications

References 31 publications

More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles

More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles

Association of BMPR1A polymorphism, but not BMP4, with kidney size in full-term newborns

Missense splice variant (g.20746A>G, p.Ile183Val) of interferon gamma receptor 1 (IFNGR1) coincidental with mycobacterial osteomyelitis - a screen of osteoarticular lesions

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