Plasminogen Polymorphism in Libyans: Description of a New Rare Variant

Sebetan, Ismail M.

doi:10.1159/000153991

Cited by 5 publications

(5 citation statements)

References 4 publications

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“…However, a clear differentiation appeared from all African samples reviewed which show high GC*1F and low GC*2 frequencies. These differences from Berbers, Tunisians, Arabs, and Bedouins from the Mourant et al (1976), Roychoudhury andNei (1988), andCavalli-Sforza et al (1994), completed, for particular cases, with data from Moral et al (1994b), Sebetan (1991) and Sebetan and Sagisaka (1988 Middle East (Chibani et al, 1985;Cleve et al, 1992) are remarkable. Differences with Tuaregs and Algerians (Constans et al, 1980) are greater, in spite of their geographical proximity, and are most extreme with west Africans.…”

Section: Protein Datamentioning

confidence: 75%

Genetic study of the population of Tenerife (Canary Islands, Spain): Protein markers and review of classical polymorphisms

Moral

Esteban

Vives

et al. 1997

Am. J. Phys. Anthropol.

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Data on six protein polymorphisms (19 alleles) from the human population of Tenerife are presented and discussed along with other classical markers in relation to the origin of the Canarians. Genetic influences from three population groups were considered: the Iberians, and the Berbers and non-Berbers (Arabs) from north Africa. The systems examined show the Tenerife population lies within the limits of variation described for various Iberian groups, with a slight tendency towards the characteristics of north African populations. When blood groups, red cell enzymes and serum protein data were considered, the similarity of the Canary population to Iberians seems strengthened (70% estimated contribution of Iberian peninsula genes to the present-day Canarian pool), while some relation with north African groups is shown. Genetic distances between Canarians and Arabs and Canarians and Berbers are lower than those between the two north African groups, indicating a relative and comparable contribution of each to the present-day gene pool of the Canarian population. The Arab contribution could be attributable to the slaves who were introduced to these islands after the conquest in the 15th century, while the Berber contribution could be the remnants of the extinct aboriginal peoples of the islands (Guanches) or a more recent immigration due to slavery. Genetic data do not allow us to distinguish between these two possibilities.

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Section: Protein Datamentioning

confidence: 75%

Genetic study of the population of Tenerife (Canary Islands, Spain): Protein markers and review of classical polymorphisms

Moral

Esteban

Vives

et al. 1997

Am. J. Phys. Anthropol.

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“…The PLG distribution in the North African Jews resembled those of the Libyan Arabs [24]. The frequency of the PLG*A in the Mid dle Estem Jews (0.6367) was slightly higher, while in the four European Jewish groups (0.66-0.70) it was lower than the estimated values (all >0.70) in the respective geographic areas of origin [e.g.…”

Section: Resultsmentioning

confidence: 85%

“…In the FXIIIB polymorphism, the observed ratio of hetero zygotes (Ho = 0.3258) was noticeably lower than the estimated gene diversity of the total population (Hr = 0.4306). [22], PLG [24], PI [33]. GC [34]; Germany (south): HP [35], AHSG [36], PLG [14].…”

Section: Resultsmentioning

confidence: 99%

“…20] confirmed this suggestion. Near East ern populations [7,8] represent the lower end of this dine, since the African populations studied so far [24] displayed similar low AHSG*2 frequencies. Moreover, AHSG* 1-1 phenotypes revealed significantly higher plas ma concentration than AHSG*2-2 pheno types [27], thus suggesting a possible associa tion between the physiological functions of the AHSG serum protein and latitude.…”

Section: Discussionmentioning

confidence: 99%

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Genetic Polymorphism of AHSG, FXIIIB, HP and PLG Serum Proteins in Six Jewish Groups in Israel

Clevė¹,

Nevo

Oppong-Nketiah³

et al. 1997

Hum Hered

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The allelic distribution of the polymorphic serum proteins AHSG, PLG, FXIIIB and HP was studied in six Jewish groups who migrated to Israel from the Middle East, North Africa, Rumania, Bulgaria, Central and Eastern Europe. The observed AHSG and PLG allele frequencies in these Jewish groups were more or less similar to the observed distributions in non-Jewish populations from their respective areas of origin, while FXIIIB and HP frequencies were similar to those in European populations. Therefore, no uniform pattern of genetic relationships between the Jewish groups was observed. A genetic distance analysis including comparative data from Europe and the Middle East reflected differences between the Jewish groups according to their areas of origin.

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“…It was soon realized that PLG-based allelic signatures could help generally identify an individual. This gave rise to the use of PLG polymorphisms in forensic hemogenetics, which included paternity examinations ( 59 , 66 , 67 ). It was later found that the polymorphic IEF phenotypes, PLGA and PLGB , were generated by a single amino acid substitution of the more acidic PLG/Asp 453 for the relatively more basic PLG/Asn 453 , respectively ( 68 ).…”

Section: Plg Polymorphisms: Historical Contextmentioning

confidence: 99%

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease

Brito-Robinson,

Ayinuola,

Ploplis

et al. 2024

Front. Cardiovasc. Med.

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Human plasminogen (PLG), the zymogen of the fibrinolytic protease, plasmin, is a polymorphic protein with two widely distributed codominant alleles, PLG/Asp453 and PLG/Asn453. About 15 other missense or non-synonymous single nucleotide polymorphisms (nsSNPs) of PLG show major, yet different, relative abundances in world populations. Although the existence of these relatively abundant allelic variants is generally acknowledged, they are often overlooked or assumed to be non-pathogenic. In fact, at least half of those major variants are classified as having conflicting pathogenicity, and it is unclear if they contribute to different molecular phenotypes. From those, PLG/K19E and PLG/A601T are examples of two relatively abundant PLG variants that have been associated with PLG deficiencies (PD), but their pathogenic mechanisms are unclear. On the other hand, approximately 50 rare and ultra-rare PLG missense variants have been reported to cause PD as homozygous or compound heterozygous variants, often leading to a debilitating disease known as ligneous conjunctivitis. The true abundance of PD-associated nsSNPs is unknown since they can remain undetected in heterozygous carriers. However, PD variants may also contribute to other diseases. Recently, the ultra-rare autosomal dominant PLG/K311E has been found to be causative of hereditary angioedema (HAE) with normal C1 inhibitor. Two other rare pathogenic PLG missense variants, PLG/R153G and PLG/V709E, appear to affect platelet function and lead to HAE, respectively. Herein, PLG missense variants that are abundant and/or clinically relevant due to association with disease are examined along with their world distribution. Proposed molecular mechanisms are discussed when known or can be reasonably assumed.

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Plasminogen Polymorphism in Libyans: Description of a New Rare Variant

Cited by 5 publications

References 4 publications

Genetic study of the population of Tenerife (Canary Islands, Spain): Protein markers and review of classical polymorphisms

Genetic study of the population of Tenerife (Canary Islands, Spain): Protein markers and review of classical polymorphisms

Genetic Polymorphism of AHSG, FXIIIB, HP and PLG Serum Proteins in Six Jewish Groups in Israel

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease

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