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Variation in human genetic polymorphisms, their association with Helicobacter pylori acquisition and gastric cancer in a multi-ethnic country

Schmidt HM, Ha DM, Taylor EF, Kovach Z, Goh KL, Fock KM, et al.

J Gastroenterol Hepatol, 2011 Dec;26(12):1725-32.
PMID: 21649724 DOI: 10.1111/j.1440-1746.2011.06799.x

BACKGROUND AND AIM: The contribution of human genetic polymorphisms to Helicobacter pylori infection and gastric cancer (GC) development remains unclear due to geographic variation in the association between specific host genetic polymorphisms and GC. In the current study we investigated the association between polymorphisms related to immune and cancer-related pathways and H. pylori infection among the major ethnicities, Chinese, Malay and Indian, resident in Singapore and Malaysia as well as the association between these polymorphisms and GC development in ethnic Chinese patients.
METHODS: Thirty-four polymorphisms in 26 genes were typed by mass spectrometry in 422 patients undergoing endoscopy (162 Chinese, 113 Indian and 87 Malay controls and 60 Chinese GC cases). Patients were assessed for evidence of H. pylori infection. Odds ratios (OR) and confidence intervals (CI) were obtained using logistic regression models.
RESULT: The prevalence of 16 polymorphisms varied significantly among the ethnicities. In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs1801200) and H. pylori infection (per-allele OR: 0.48, 95% CI 0.23, 0.98, P = 0.04), (ii) PTGS2-1195G (rs689466) and an increased risk of GC on adjusting for H. pylori status (OR: 1.53, 95% CI 0.99, 2.37, P = 0.05), and (iii) IL1B-1473C (rs1143623) and a decreased risk of GC (OR: 0.64, 95% CI 0.41, 0.99, P = 0.05). Borderline significant associations were seen between IL2-330G (rs2069762) (OR 1.45, 95% CI 0.95, 2.15, P = 0.06) and IL13-1111T (rs1800925) (OR 0.65, 95% CI 0.42, 1.01, P = 0.06) and H. pylori infection.
CONCLUSION: These findings contribute to the understanding of the genetic variation between ethnicities, which may influence H. pylori susceptibility and the outcome of infection.

Matched MeSH terms: Genetic Variation/genetics*
Variation in coat protein genes among five geographically different isolates of rice tungro spherical virus

Zhang S, Lee G, Davies JW, Hull R

Arch Virol, 1997;142(9):1873-9.
PMID: 9672645

The variation in the sequence of the coat protein genes of four isolates of rice tungro spherical virus from different countries, Malaysia, Thailand, India and Bangladesh, was compared with an isolate from the Philippines. The evidence from RT-PCR, Southern blot hybridization and sequences of the coat protein genes indicated that the isolates appeared to fall into two groups. One comprised the Philippine and Malaysian isolates (about 95% sequence similarity) and the other the Bangladeshi and Indian isolates, the sequences of which differed by about 15% from that of the Philippine isolate. The Thai isolate seemed to be a mixture of these two subgroups.

Matched MeSH terms: Genetic Variation*
Use of COI, CytB and ND5 genes for intra- and inter-specific differentiation of Haematobia irritans and Haematobia exigua

Low VL, Tan TK, Lim PE, Domingues LN, Tay ST, Lim YA, et al.

Vet Parasitol, 2014 Aug 29;204(3-4):439-42.
PMID: 24912955 DOI: 10.1016/j.vetpar.2014.05.036

A multilocus sequence analysis using mitochondria-encoded cytochrome c oxidase subunit I (COI), cytochrome B (CytB), NADH dehydrogenase subunit 5 (ND5); nuclear encoded 18S ribosomal RNA (18S) and 28S ribosomal RNA (28S) genes was performed to determine the levels of genetic variation between the closely related species Haematobia irritans Linnaeus and Haematobia exigua de Meijere. Among these five genes, ND5 and CytB genes were found to be more variable and informative in resolving the interspecific relationships of both species. In contrast, the COI gene was more valuable in inferring the intraspecific relationships. The ribosomal 18S and 28S sequences of H. irritans and H. exigua were highly conserved with limited intra- and inter-specific variation. Molecular evidence presented in this study demonstrated that both flies are genetically distinct and could be differentiated based on sequence analysis of mitochondrial genes.

Matched MeSH terms: Genetic Variation
Unusually high genetic diversity in the Bornean Limnonectes kuhlii-like fanged frogs (Anura: Dicroglossidae)

Matsui M, Kuraishi N, Eto K, Hamidy A, Nishikawa K, Shimada T, et al.

Mol Phylogenet Evol, 2016 09;102:305-19.
PMID: 27374495 DOI: 10.1016/j.ympev.2016.06.009

A fanged frog Limnonectes kuhlii was once thought to be wide-ranging in Southeast Asia, but is now confined to its type locality Java through recent phylogenetic studies, which clarified heterospecific status of non-Javanese populations, and monophyly of Bornean populations. However, large genetic differences among Bornean populations suggest occurrence of cryptic species, which we test using dense geographic sampling. We estimated the phylogenetic relationships among samples of Bornean populations together with their putative relatives from the continental Southeast Asia, using 2517bp sequences of the 12S rRNA, tRNA(val), and 16S rRNA of mitochondrial DNA, and 2367bp sequences of the NCX1, POMC, and RAG1 of nuclear genes. In the mtDNA trees, Bornean L. kuhlii-like frogs formed a monophyletic group split into 18 species lineages including L. hikidai, with the deepest phylogenetic split separating L. cintalubang from the remaining species. Almost all of these lineages co-occur geographically, and two to three lineages were found syntopically in each locality. Co-occurrence of more than one lineage may be maintained by differential morphology and microhabitat selection. These syntopic lineages should be regarded as distinct species. Our results clearly indicate that taxonomic revision is urgent to clarify many evolutionary problems of Bornean L. kuhlii-like frogs.

Matched MeSH terms: Genetic Variation*
Unexpected diversity of sandflies (Diptera: Psychodidae) in tourist caves in Northern Thailand

Sukantamala J, Sing KW, Jaturas N, Polseela R, Wilson JJ

Mitochondrial DNA A DNA Mapp Seq Anal, 2017 11;28(6):949-955.
PMID: 27759464 DOI: 10.1080/24701394.2016.1214728

Certain species of Phlebotomine sandflies (Diptera: Psychodidae) are vectors of the protozoa which causes leishmaniasis. Sandflies are found breeding in enclosed places like caves. Thailand is a popular tourist destination, including for ecotourism activities like caving, which increases the risk of contact between tourists and sandflies. Surveillance of sandflies is important for monitoring this risk but identification of species based on morphology is challenged by phenotypic plasticity and cryptic diversity. DNA barcodes have been used for the identification of sandflies in Thailand. We collected sandflies using CDC light trap from four tourist caves in Northern Thailand. Female sandflies were provisionally sorted into 13 morphospecies and 19 unidentified specimens. DNA was extracted from the thorax and legs of sandflies and the DNA barcode region of cytochrome c oxidase I mtDNA amplified and sequenced. The specimens were sorted into 22 molecular operational taxonomic units (MOTU) based on the 145 DNA barcodes, which is significantly more than the morphospecies. Several of the taxa thought to be present in multiple caves, based on morphospecies sorting, split into cave-specific MOTU which likely represent cryptic species. Several MOTU reported in an earlier study from Wihan Cave, Thailand, were also found in these caves. This supports the use of DNA barcodes to investigate species diversity of sandflies and their useful role in surveillance of sandflies in Thailand.

Matched MeSH terms: Genetic Variation*
Understanding the genetic relationships between Indonesian bambara groundnut landraces and investigating their origins

Redjeki ES, Ho WK, Shah N, Molosiwa OO, Ardiarini NR, Kuswanto, et al.

Genome, 2020 Jun;63(6):319-327.
PMID: 32097026 DOI: 10.1139/gen-2019-0137

A total of 170 bambara groundnut (Vigna subterranea) accessions were evaluated using both simple sequence repeat (SSR) and single nucleotide polymorphism (SNP) markers generated using genotyping-by-sequencing (GbS), of which 56 accessions were collected from West and East Java. Principal coordinate analysis (PCoA), population structure, and cluster analysis suggest that the East Java accessions could be a result of the introduction of selected West Java accessions. In addition, the current Indonesian accessions were likely introduced from Southern Africa, which would have produced a very marked founding effect such that these accessions present only a fraction of the genetic variability that exists within this species.

Matched MeSH terms: Genetic Variation/genetics*
Two types of triplicated alpha-globin loci in humans

Lie-Injo LE, Herrera AR, Kan YW

Nucleic Acids Res, 1981 Aug 11;9(15):3707-17.
PMID: 6269090

DNA from healthy Malaysian newborns was studied on gene maps after digestion with different restriction endonucleases. Of 65 newborns, two were found to be carriers of two different variants of triplicated alpha-globin loci. In variant no. 1, found in an Malay, the three alpha-globin genes are in an elongated DNA fragment on digestion with Eco RI and Bam HI. The third alpha-globin gene was found in a additional 3.7-kb fragment on digestion with Hpa I, Bgl II and Hind III. In variant no. 2, a new type of triplicated alpha-globin loci, found in a Chinese, the three alpha-globin genes reside in an elongated DNA fragment longer than that of variant no. 1 on digestion with Eco RI and Bam HI. The third alpha-globin gene was found in an additional 4.2-kb fragment on digestion with Hpa I and Hind III. Digestion of this variant DNA with Bg1 II produced an abnormal 16.7-kb fragment in addition to the normal 7.0-kb Bgl-II fragment. The locations of the restriction sites in the two types of triplicated alpha-globin loci are compatible with a mechanism of unequal crossing over following two different modes of misalignment.

Matched MeSH terms: Genetic Variation
Fulltext Two truncating variants in FANCC and breast cancer risk

Dörk T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, et al.

Sci Rep, 2019 08 29;9(1):12524.
PMID: 31467304 DOI: 10.1038/s41598-019-48804-y

Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.

Matched MeSH terms: Genetic Variation
Transferrin C subtyping in Malaysians and in Indonesians from North Sumatra

Tan SG, Gan YY, Asuan K

Hum Genet, 1982;60(4):369-70.
PMID: 7106773

Malays, Chinese, and Indians from Peninsular Malaysia; Ibans and Bidayuh from Sarawak State; Kadazans from Sabah State, Northern Borneo; and Bataks, Minangkabau, and Javanese from North Sumatra, Indonesia, were subtyped for transferrin C by polyacrylamide gel isoelectric focusing. All nine populations studied are polymorphic for two alleles, TfCl and TfC2, TfC3 was polymorphic in six populations and present as a rare variant in the other three. The frequency of TfC1 ranged from 0.855 in Bidayuh to 0.711 in Javanese, that of TfC2 from 0.231 in Indians to 0.113 in Bidayuh, and that of TfC3 from 0.030 in Javanese and Chinese to 0.008 in Bidayuh. TfDchi is polymorphic in all the populations that we studied except in Minangkabau, in whom it is present as a rare variant, and in Indians, in whom it is absent.

Matched MeSH terms: Genetic Variation
Towards monitoring the sandflies (Diptera: Psychodidae) of Thailand: DNA barcoding the sandflies of Wihan Cave, Uttaradit

Polseela R, Jaturas N, Thanwisai A, Sing KW, Wilson JJ

Mitochondrial DNA A DNA Mapp Seq Anal, 2016 09;27(5):3795-801.
PMID: 26370580 DOI: 10.3109/19401736.2015.1082085

Sandflies vary in their distributions and role in pathogen transmission. Attempts to record distributions of sandflies in Thailand have faced difficulties due to their high abundance and diversity. We aim to provide an insight into the diversity of sandflies in Thailand by (i) conducting a literature review, and (ii) DNA barcoding sandflies collected from Wihan Cave where eight morphologically characterized species were recorded. DNA barcodes generated for 193 sandflies fell into 13 distinct species clusters under four genera (Chinius, Idiophlebotomus, Phlebotomus and Sergentomyia). Five of these species could be assigned Linnaean species names unambiguously and two others corresponded to characterized morphospecies. Two species represented a complex under the name Sergentomyia barraudi while the remaining four had not been recognized before in any form. The resulting species checklist and DNA barcode library contribute to a growing set of records for sandflies which is useful for monitoring and vector control.

Matched MeSH terms: Genetic Variation
Timeframes of speciation, reticulation, and hybridization in the bulldog bat explained through phylogenetic analyses of all genetic transmission elements

Khan FA, Phillips CD, Baker RJ

Syst Biol, 2014 Jan 1;63(1):96-110.
PMID: 24149076 DOI: 10.1093/sysbio/syt062

Phylogenetic comparisons of the different mammalian genetic transmission elements (mtDNA, X-, Y-, and autosomal DNA) is a powerful approach for understanding the process of speciation in nature. Through such comparisons the unique inheritance pathways of each genetic element and gender-biased processes can link genomic structure to the evolutionary process, especially among lineages which have recently diversified, in which genetic isolation may be incomplete. Bulldog bats of the genus Noctilio are an exemplar lineage, being a young clade, widely distributed, and exhibiting unique feeding ecologies. In addition, currently recognized species are paraphyletic with respect to the mtDNA gene tree and contain morphologically identifiable clades that exhibit mtDNA divergences as great as among many species. To test taxonomic hypotheses and understand the contribution of hybridization to the extant distribution of genetic diversity in Noctilio, we used phylogenetic, coalescent stochastic modeling, and divergence time estimates using sequence data from cytochrome-b, cytochrome c oxidase-I, zinc finger Y, and zinc finger X, as well as evolutionary reconstructions based on amplified fragment length polymorphisms (AFLPs) data. No evidence of ongoing hybridization between the two currently recognized species was identified. However, signatures of an ancient mtDNA capture were recovered in which an mtDNA lineage of one species was captured early in the noctilionid radiation. Among subspecific mtDNA clades, which were generally coincident with morphology and statistically definable as species, signatures of ongoing hybridization were observed in sex chromosome sequences and AFLP. Divergence dating of genetic elements corroborates the diversification of extant Noctilio beginning about 3 Ma, with ongoing hybridization between mitochondrial lineages separated by 2.5 myr. The timeframe of species' divergence within Noctilio supports the hypothesis that shifts in the dietary strategies of gleaning insects (N. albiventris) or fish (N. leporinus) are among the most rapid instances of dietary evolution observed in mammals. This study illustrates the complex evolutionary dynamics shaping gene pools in nature, how comparisons of genetic elements can serve for understanding species boundaries, and the complex considerations for accurate taxonomic assignment.

Matched MeSH terms: Genetic Variation
Fulltext Tiger on the prowl: Invasion history and spatio-temporal genetic structure of the Asian tiger mosquito Aedes albopictus (Skuse 1894) in the Indo-Pacific

Maynard AJ, Ambrose L, Cooper RD, Chow WK, Davis JB, Muzari MO, et al.

PLoS Negl Trop Dis, 2017 04;11(4):e0005546.
PMID: 28410388 DOI: 10.1371/journal.pntd.0005546

BACKGROUND: Within the last century, increases in human movement and globalization of trade have facilitated the establishment of several highly invasive mosquito species in new geographic locations with concurrent major environmental, economic and health consequences. The Asian tiger mosquito, Aedes albopictus, is an extremely invasive and aggressive daytime-biting mosquito that is a major public health threat throughout its expanding range.
METHODOLOGY/PRINCIPAL FINDINGS: We used 13 nuclear microsatellite loci (on 911 individuals) and mitochondrial COI sequences to gain a better understanding of the historical and contemporary movements of Ae. albopictus in the Indo-Pacific region and to characterize its population structure. Approximate Bayesian computation (ABC) was employed to test competing historical routes of invasion of Ae. albopictus within the Southeast (SE) Asian/Australasian region. Our ABC results show that Ae. albopictus was most likely introduced to New Guinea via mainland Southeast Asia, before colonizing the Solomon Islands via either Papua New Guinea or SE Asia. The analysis also supported that the recent incursion into northern Australia's Torres Strait Islands was seeded chiefly from Indonesia. For the first time documented in this invasive species, we provide evidence of a recently colonized population (the Torres Strait Islands) that has undergone rapid temporal changes in its genetic makeup, which could be the result of genetic drift or represent a secondary invasion from an unknown source.
CONCLUSIONS/SIGNIFICANCE: There appears to be high spatial genetic structure and high gene flow between some geographically distant populations. The species' genetic structure in the region tends to favour a dispersal pattern driven mostly by human movements. Importantly, this study provides a more widespread sampling distribution of the species' native range, revealing more spatial population structure than previously shown. Additionally, we present the most probable invasion history of this species in the Australasian region using ABC analysis.

Matched MeSH terms: Genetic Variation*
Three Taxa in One: Cryptic Diversity in the Black Fly Simulium nobile (Diptera: Simuliidae) in Southeast Asia

Low VL, Takaoka H, Pramual P, Adler PH, Ya'cob Z, Chen CD, et al.

J Med Entomol, 2016 07;53(4):972-976.
PMID: 27208009

We access the molecular diversity of the black fly Simulium nobile De Mejiere, using the universal cytochrome c oxidase subunit I (COI) barcoding gene, across its distributional range in Southeast Asia. Our phylogenetic analyses recovered three well-supported mitochondrial lineages of S. nobile, suggesting the presence of cryptic species. Lineage A is composed of a population from Sabah, East Malaysia (Borneo); lineage B represents the type population from Java, Indonesia; and lineage C includes populations from the mainland of Southeast Asia (Peninsular Malaysia and Thailand). The genetic variation of lineage C on the mainland is greater than that of lineages A and B on the islands of Borneo and Java. Our study highlights the value of a molecular approach in assessing species status of simuliids in geographically distinct regions.

Matched MeSH terms: Genetic Variation*
Fulltext Three Divergent Subpopulations of the Malaria Parasite Plasmodium knowlesi

Divis PC, Lin LC, Rovie-Ryan JJ, Kadir KA, Anderios F, Hisam S, et al.

Emerg Infect Dis, 2017 04;23(4):616-624.
PMID: 28322705 DOI: 10.3201/eid2304.161738

Multilocus microsatellite genotyping of Plasmodium knowlesi isolates previously indicated 2 divergent parasite subpopulations in humans on the island of Borneo, each associated with a different macaque reservoir host species. Geographic divergence was also apparent, and independent sequence data have indicated particularly deep divergence between parasites from mainland Southeast Asia and Borneo. To resolve the overall population structure, multilocus microsatellite genotyping was conducted on a new sample of 182 P. knowlesi infections (obtained from 134 humans and 48 wild macaques) from diverse areas of Malaysia, first analyzed separately and then in combination with previous data. All analyses confirmed 2 divergent clusters of human cases in Malaysian Borneo, associated with long-tailed macaques and pig-tailed macaques, and a third cluster in humans and most macaques in peninsular Malaysia. High levels of pairwise divergence between each of these sympatric and allopatric subpopulations have implications for the epidemiology and control of this zoonotic species.

Matched MeSH terms: Genetic Variation*
Fulltext The world's most isolated and distinct whale population? Humpback whales of the Arabian Sea

Pomilla C, Amaral AR, Collins T, Minton G, Findlay K, Leslie MS, et al.

PLoS One, 2014;9(12):e114162.
PMID: 25470144 DOI: 10.1371/journal.pone.0114162

A clear understanding of population structure is essential for assessing conservation status and implementing management strategies. A small, non-migratory population of humpback whales in the Arabian Sea is classified as "Endangered" on the IUCN Red List of Threatened Species, an assessment constrained by a lack of data, including limited understanding of its relationship to other populations. We analysed 11 microsatellite markers and mitochondrial DNA sequences extracted from 67 Arabian Sea humpback whale tissue samples and compared them to equivalent datasets from the Southern Hemisphere and North Pacific. Results show that the Arabian Sea population is highly distinct; estimates of gene flow and divergence times suggest a Southern Indian Ocean origin but indicate that it has been isolated for approximately 70,000 years, remarkable for a species that is typically highly migratory. Genetic diversity values are significantly lower than those obtained for Southern Hemisphere populations and signatures of ancient and recent genetic bottlenecks were identified. Our findings suggest this is the world's most isolated humpback whale population, which, when combined with low population abundance estimates and anthropogenic threats, raises concern for its survival. We recommend an amendment of the status of the population to "Critically Endangered" on the IUCN Red List.

Matched MeSH terms: Genetic Variation
The variability of lower third molar development in Northeast Malaysian population with application to age estimation

Johan NA, Khamis MF, Abdul Jamal NS, Ahmad B, Mahanani ES

J Forensic Odontostomatol, 2012 Jul;30(1):45-54.
PMID: 23000811

This study aimed to assess the variability of the lower third molar (tooth 38 and 48) development in Northeast Malaysian population with respect to the side of dentition, to generate age prediction models and to compare the outcome with other studies. A total of 1080 orthopantomograms of Northeast Malaysian population aged between 14 and 25 years (540 males and 540 females) from the Hospital Universiti Sains Malaysia's archive which met the inclusion and exclusion criteria were selected and the maturity stages of tooth 38 and 48 were scored using Demirjian's stages (A-H). The findings showed a wide variation of the development of lower third molars in the Northeast Malaysian population. The roots developed earlier in males than in females. The development of the dentition on opposite sides of the mandible was synchronously in females and males. A multiple regression analysis shows that 71.1% of variance in age was explained by sex and developmental stage of tooth 48. An age prediction model was generated from the regression analysis: [Age = 7.117 + 1.907*(stage of tooth 48) - 0.432*(sex)] with mean prediction errors between -0.17 to 3.14 years. The obtained data in the current study are useful for references and determining age of unidentified human remains for identification investigation.

Matched MeSH terms: Genetic Variation
The utility of RAPD markers for the determination of genetic variation in oil palm (Elaeis guineensis)

Shah FH, Rashid O, Simons AJ, Dunsdon A

Theor Appl Genet, 1994 Nov;89(6):713-8.
PMID: 24178016 DOI: 10.1007/BF00223710

The genetic variation among different accessions of oil-palm germplasm collected from Africa was estimated using random primers and the polymerase chain reaction. The present study revealed high levels of genetic variation in these accessions. Electrophoresis of the amplification products indicated that nine out of 20 primers were able to generate polymorphic products ranging in length from 0.2 kb to 2.3 kb. No individual palm or population-specific products were observed. Greatest diversity was seen in Zaire population 5 and the least in Zaire population 2.

Matched MeSH terms: Genetic Variation
Fulltext The structure of a major surface antigen SAG19 from Eimeria tenella unifies the Eimeria SAG family

Ramly NZ, Dix SR, Ruzheinikov SN, Sedelnikova SE, Baker PJ, Chow YP, et al.

Commun Biol, 2021 03 19;4(1):376.
PMID: 33742128 DOI: 10.1038/s42003-021-01904-w

In infections by apicomplexan parasites including Plasmodium, Toxoplasma gondii, and Eimeria, host interactions are mediated by proteins including families of membrane-anchored cysteine-rich surface antigens (SAGs) and SAG-related sequences (SRS). Eimeria tenella causes caecal coccidiosis in chickens and has a SAG family with over 80 members making up 1% of the proteome. We have solved the structure of a representative E. tenella SAG, EtSAG19, revealing that, despite a low level of sequence similarity, the entire Eimeria SAG family is unified by its three-layer αβα fold which is related to that of the CAP superfamily. Furthermore, sequence comparisons show that the Eimeria SAG fold is conserved in surface antigens of the human coccidial parasite Cyclospora cayetanensis but this fold is unrelated to that of the SAGs/SRS proteins expressed in other apicomplexans including Plasmodium species and the cyst-forming coccidia Toxoplasma gondii, Neospora caninum and Besnoitia besnoiti. However, despite having very different structures, Consurf analysis showed that Eimeria SAG and Toxoplasma SRS families each exhibit marked hotspots of sequence hypervariability that map to their surfaces distal to the membrane anchor. This suggests that the primary and convergent purpose of the different structures is to provide a platform onto which sequence variability can be imposed.

Matched MeSH terms: Genetic Variation
The sternalis muscle in cadavers: anatomical facts and clinical significance

Rahman NA, Das S, Maatoq Sulaiman I, Hlaing KP, Haji Suhaimi F, Latiff AA, et al.

Clin Ter, 2009;160(2):129-31.
PMID: 19452102

The sternalis is an anomalous muscle located in the anterior wall of thorax and several past reports have described its presence with clinical implications. The sternalis muscle may be incidentally detected during routine cadaveric dissections and autopsies. We observed the presence of anomalous sternalis muscle on both sides of the anterior chest wall in 25 cadavers (n = 50), over a span of three years. Out of a 50 cases, we observed a single case of sternalis on the right side of the 55-year-old male cadaver (2%). The sternalis was found to be absent in the rest 49 cases (98%). The sternalis muscle displayed an oblique course in the anterior wall of the thorax. The muscle originated near the seventh costal cartilage extending obliquely upwards to insert into the second costal cartilage close to the sternum. The originating portion of the muscle was located at a distance of 3.5 cm lateral to the mid-sternal plane. The vertical length and the maximum width of the anomalous sternalis muscle measured 9 cm and 1.9 cm, respectively. The fibers of the muscle vertically ascended upwards. No other associated anomalies were observed in the same cadaver. The presence of sternalis muscle is considered to be a rare variation with no earlier studies being performed in the Malaysian population. The anomalous sternalis muscle may be important for reconstructive surgeons performing mastectomy and radiologists interpreting mammograms. Thus, the sternalis muscle may be academically, anthropologically and surgically important.

Matched MeSH terms: Genetic Variation
The role of tyrosine hydroxylase gene variants in suicide attempt in schizophrenia

Hu J, Chan LF, Souza RP, Tampakeras M, Kennedy JL, Zai C, et al.

Neurosci Lett, 2014 Jan 24;559:39-43.
PMID: 24275212 DOI: 10.1016/j.neulet.2013.11.025

Evidence has shown that attempted suicide in psychiatric disorders is a complex interplay of genes and environment. Noradrenergic dysfunction due to abnormalities in the tyrosine hydroxylase (TH) gene has been implicated in the pathogenesis of suicidal behavior in mood disorders. However, suicide is a leading cause of mortality in schizophrenia too. Recent evidence suggests that TH gene variants may also increase the risk of suicide attempts in schizophrenia patients, although the interaction with established clinical risk factors is unclear. This study aimed to identify TH gene variants conferring risk for suicide attempt in schizophrenia while accounting for the interaction between this gene and clinical risk factors. We performed analysis on four TH SNPs (rs11564717, rs11042950, rs2070762, rs689) and the common TCAT repeat (UniSTS:240639) for 234 schizophrenia patients (51 suicide attempters and 183 non-attempters). Clinical risk factors and ethnic stratification were included as covariates. Single marker analysis identified the SNP rs11564717 (p=0.042) and the TCAT(6) (p=0.004) as risk variants for suicide attempt. We also identified the haplotype A-A-A-G as a risk factor for suicide attempt (p=0.0025). In conclusion, our findings suggest that TH polymorphisms may contribute to the risk of attempted suicide in schizophrenia even after accounting for established clinical risk factors and ethnic stratification. Further larger scale studies are needed to confirm these findings and to understand the mechanisms underlying the role of TH gene variants in suicide attempt in schizophrenia.

Matched MeSH terms: Genetic Variation/genetics*

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